WorldWideScience

Sample records for folklore studies association

  1. Folklore: A Foundation for Literary Study.

    Science.gov (United States)

    Galda, S. L.; Pellegrini, A. D.

    1981-01-01

    Discusses folklore as the basis for literary study. Discusses two major theoretical positions on folklore universals--behaviorism and structuralism--and applies the two theories to literary analysis. (FL)

  2. [Study of names and folklore associated with Mycobacterium ulcerans infection in various endemic countries in Africa].

    Science.gov (United States)

    Kibadi, K; Aujoulat, I; Meyers, W M; Mokassa, L; Muyembe, T; Portaels, F

    2007-06-01

    The purpose of this article is to present names used for Mycobacterium ulcerans infection (Buruli ulcer) and explain their meanings in various African languages. Representations associated with the disease were also studied. The study approach involved qualitative analysis of information from interviews and literature. Interviews were conducted with the directors of various programs and management centers. Findings from 9 African countries where Buruli ulcer is known to be endemic, i.e., Benin, Cameroon, Congo-Brazzaville, Côte d'Ivoire, Ghana, Uganda, Democratic Republic of Congo, Southern Sudan and Togo, showed that the names used for the disease could be classified into three categories based on the geographical origin of infection, the features of the observed lesions, and aspects of ost often associated with belief in witch-craft, i.e., bad luck, fetishes, and curses. Representation of the disease in different African languages were similar and appear to demonstrate a good understanding of the disease in the countries where Buruli ulcer is prevalent. The impact of the representations of the disease on therapeutic choices and itineraries is also discussed.

  3. WHY STUDY FOLKLORISM ARTS BY S.A. ESENIN? PROHIBITIVELY METAPHORICALLY DAL

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    Marianna GALIEVA

    2015-01-01

    Full Text Available The article raises the question, on the theoretical side, on the functioning of the folk tradition in the poetics by S.A. Esenin. On the one hand, this problem is sufficiently studied, on the other hand, the researchers identified mainly secondary facts folklorism in the poet. For a different view on this issue is needed to develop a different methodology and theoretical apparatus. Please refer to the inner shape of folklorism, folklore and myth, standing behind a metaphor. Esenin's early work is associated not only with folklorism and ethnographism open type, but also implicitly with the poetics of Russian fairy tales, with its installation on the ideal of "a kingdom."

  4. 鲁迅民俗观形成的历史考察%Historical Study of Lu Xun's Folklore Viewpoints

    Institute of Scientific and Technical Information of China (English)

    赵献涛

    2012-01-01

    鲁迅民俗观的形成,主要与国外人类学派民俗观、中国现代民俗学运动的影响有关。与借民俗以研究历史或表达人生情趣不同,鲁迅的民俗观是一种启蒙致用的民俗观,但其部分观念并没有超出同时代的其他人物。人类学派民俗观与中国现代民俗学运动,成就了鲁迅的民俗视野,但同时也弱化了鲁迅的思想。%Formation of Lu Xun's folklore viewpoints closely associated with the foreign anthropology folklore viewpoints and modern folklore movement of China.Being different from studying the history and expressing life interest through the folklore,Lu Xun's folklore viewpoints was a kind of practical enlightenment.But some ideas of Lu Xun's folklore viewpoints do not go beyond other contemporary folklorists.Lu Xun's folklore viewpoints were formed by the foreign anthropology folklore viewpoints and the modern folklore movement of China,and to some extent Lu Xun's thoughts were weakened by them too.

  5. Folklore associated with dying in the west of Ireland.

    Science.gov (United States)

    Donnelly, S

    1999-01-01

    The warm welcome for modern advances in the care of the dying should not exclude the past in which there is much to be learned from the skills of our ancestors. A bilingual two-year qualitative research project into traditions associated with dying and death was undertaken. Research began in the archives available in the internationally recognized university folklore departments of Ireland and Scotland. This was augmented by 40 indepth personal interviews with Gaelic- and English-speaking residents in rural communities of both countries, recalling local customs and practices in the care of the dying. This paper reports the Irish experience; the collection of data in Scotland continues. From this study, several main themes emerged. Death was seen and accepted as a natural continuation of life, simply a step into the spirit world. In view of people's oneness with nature and the spiritual world, death was not to be feared. Traditions were unique to each area even down to the precise number of candles used at the sickbed. People understood the signs and symptoms of dying and were skilled in alleviating the distress of both relatives and the dying; and, in this, language was important in capturing and expressing the philosophy of these people. The acceptance of death as the one truism of life was facilitated by the strong faith and prayer of people for whom, in the celebration of death, humour was never far away. In their grief, the community was supported by the loose formality of the wake (torramh), funeral procession, keening (caoineadh) and music. In all these, the men and women of the community and its leaders had distinct and respected roles to play.

  6. The Third Force in Folklore Studies: Gary Alan Fine's Sociological Approach

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    Dragana Antonijević

    2016-03-01

    Full Text Available This paper attempts to offer a critical overview of the theoretical and methodological contribution of micro-sociologist and social psychologist Gary Alan Fine to folklore studies. It begins with a discussion of both the major and most questioned points of his methodology, continues with a consideration of the wider folkloristical framework of his interpretation, and ends with a suggestion for innovation and improvement of Fine's analytical framework for the interpretation of folk narratives. Gary Alan Fine's most significant contribution to folklore studies was research of rumours and urban legends, including their meaning, function, and influence on individual behavior. In a series of papers, apart from offering an interpretation of various urban and corporate legends, he also demonstrated methods and means of connecting social and cultural factors with narrative content, in the context of social and economic structures and relations in post-industrial and late-capitalist global societies. Of special interest are papers in which he analyzes folklore as expressive culture and a form of symbolic communication between small groups, as an important form of selfidentification and behavior strategies both from within and without of the group. Fine makes a point when he diagnoses a lack of analyses of this sort in American folklore studies, wishing there were enough to make a significant turn in contemporary folkloristics. This is why Fine named his new research strategy the "third force". Another dimension of his contribution is the further elaboration of the analytical framework that relies on socio-structural, socio-psychological, symbolical and economical parameters of explanation. For that purpose, he constructed a theoretical and methodogical model called the folklore diamond. With his suggestions and critique of the existing state of folklore studies, Gary Alan Fine provided a very significant contribution to the science of folklore in general.

  7. The Role of Folklore Study in the Rise of Russian Formalist and Czech Structuralist Literary Theory

    OpenAIRE

    Merrill, Jessica Evans

    2012-01-01

    Russian formalism and Czech structuralism are understood to have initiated the study of literature as a self-sufficient discipline by applying linguistic concepts to the analysis of literary texts. This dissertation seeks to enrich our understanding of this development by examining the transition from linguistics to literary theory from an intellectual-historical perspective. My thesis is that folklore study played a crucial role in the rise of formalist and structuralist literary theory by s...

  8. Teaching Anthropology through Folklore.

    Science.gov (United States)

    Bonney, Rachel A.

    1985-01-01

    Describes three uses of folklore in teaching college-level anthropology courses: (1) collecting folklore through interviewing; (2) analyzing folklore themes; and (3) using folklore in puppetry and plays. (KH)

  9. Folklore in the Classroom. Workbook.

    Science.gov (United States)

    Allen, Barbara; And Others

    Written by experts in the field of folklore for laymen, this three-part volume is intended to help teachers of English, social studies, mathematics and science, home economics, the arts, and other subject areas to become more knowledgeable about folklore and to inject this knowledge into their existing curricula. The first part, on introducing…

  10. Focus on Folklore.

    Science.gov (United States)

    Mullican, James S., Ed.

    1977-01-01

    This issue of the "Indiana English Journal" is devoted to various facets of folklore. Topics of articles are folklore museums as resource sites for teaching; American folklore and the English classroom; writing about folklore in the freshman English class; some folklore and related materials for composition classes; developing teaching materials…

  11. Folklore-Based Learning on the Web--Pedagogy, Case Study, and Evaluation

    Science.gov (United States)

    Lee, Jimmy Ho-Man; Lee, Fong-Lok; Lau, Tai-Shing

    2006-01-01

    Folklore-based learning is a kind of situated learning paradigm in which students learn by solving problems embedded in a near-real situation. The proposed learning approach employs further interesting story plots from folklores as the background situation to motivate students to participate in learning activities. It is believed that such a…

  12. Folklore for Foxfire Teachers.

    Science.gov (United States)

    Duncan, Barbara Reimensnyder

    1993-01-01

    Discusses using folklore as a means of connecting classroom work to surrounding communities and the real world (a Foxfire "core practice"). Includes an overview of Foxfire history, folklore concepts, and activities for learning about folklore. Stresses the value of folklore for both teachers and students. Lists information resources and…

  13. Charles Dicken’s Use of Folklore: A Study of Elements in Bleak House

    Science.gov (United States)

    1981-04-21

    capitalized , meant a fox (T23/141). All of these strong, adult connotations are engendered in Charley the child who has survived and supported her family...Art: A Book Dealing With the Psycology and the Folklore of the Witches. London, Herbert Jenkins, Ltd., 1925; reprint ed. Ann Arbor, Michigan: Gryphon

  14. FOLKLORE STUDIES AND NATIONALISM IN TURKEY ABSTRACT TÜRKİYE’DE FOLKLOR ÇALIŞMALARI VE MİLLİYETÇİLİK

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    İlhan BAŞGÖZ

    2011-09-01

    Full Text Available Interest in folklore began in Turkey in the second half of the nineteenth century when the need was felt to forge a national language which could be understood by the majority. The Tanzimat reforms, which were introduced in 1839, inaugurated a functional change in Ottoman literature. A new generation of writers who were in contact with the West, especially France, and admired the economic, social, and educational institutions of Europe, soon realized that literature played an important role in the development of these institutions. To create a literature using the language of "common people," which was pure Turkish and unspoiled by foreign influences, made the Tanzimat writers interested in folklore and folk literature. Many other poets, novelists, play- wrights, and the intellectuals joined the movement between 1860 and 1900. The emergence of Turkish nationalism marked a new era in the attitude of intellectuals toward folklore and it was Boratav who introduced folklore to Turkey as an independent, scientific discipline. He enlarged the scope of folklore teaching and research to include verbal and nonverbal tradition. Türkiye’de folklora olan ilk ilgi, on dokuzuncu yüzyılın ikinci yarısında halkın çoğunluğu tarafından anlaşılabilecek bir milli dilin oluşturulması ihtiyacı hissedildiğinde başladı. 1839’da ilan edilen Tanzimat reformları Osmanlı edebiyatında fonksiyonel bir değişimi başlattı. Özellikle Fransa başta olmak üzere, Batı ile sıkı ilişkiler içerisinde olan ve Avrupa’nın ekonomik, sosyal ve eğitim kurumlarını arzu eden, örnek alan yeni nesil Osmanlı yazarları, çok geçmeden bu kurumların gelişmesinde edebiyatın önemli bir rol oynadığını fark ettiler. Yabancı etkilerle kirletilmemiş, saf Türkçe olan halkın dilini kullanarak bir edebiyat yaratmak için Tanzimat yazarları, halk bilimi ve halk edebiyatı ile ilgilendiler. Pek çok şair, romancı, oyun yazarı ve entellekt

  15. Preserving Southwest Virginia's Folklore.

    Science.gov (United States)

    Burgin, Ramond

    1997-01-01

    Describes Southwest Virginia's rich tradition of folklore and culture and the need for its preservation. Summarizes the author's time-consuming process of preparing an inventory and indexing the vast archival collections gathered by students in American Folklore classes at Mountain Empire Community College and by the Southwest Virginia Folklore…

  16. Building Collections: Folklore

    Science.gov (United States)

    Krapp, JoAnn Vergona

    2005-01-01

    Folklore, the oldest form of storytelling, reflects the culture of a country, hence its nonfiction classification. Through these tales, one senses the values, the humor, and the lifestyles of its peoples. A powerful genre, folklore is the foundation on which high fantasy is created, epic films are produced, and a single story is passed from one…

  17. Africana: Folklore Collections for Children

    Science.gov (United States)

    Herman, Gertrude B.

    1972-01-01

    Some general citeria for the evaluation of folklore for children are defined; some of the particular characteristics of African folklore are identified and a selected bibliography of recommended books is presented in this article. (49 references) (Author/NH)

  18. Estonian Folklore Archives

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    Risto Järv

    2013-10-01

    Full Text Available This essay presents the history and development of the The Estonian Folklore Archives, the central folklore archives of Estonia established in 1927, and examines its function in relation to the development of online databases. The Archives’ primary purpose has been to make the manuscript materials easily available for researchers working with the collection. The collections consist of manuscripts, sound recordings, photographs, and film and video materials, with an experimental multimedia collection as of 2008. The most extensive project related to the collections was the digitization in 2011-12 of Jakob Hurt’s folklore collection, stored in Kivike, a new file repository and archival infosystem of the Estonian Literary Museum.

  19. TRANSFER OF NATIONAL CULTURE AND FOLKLORE THROUGH TURKISH TEXTBOOK

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    Alpaslan OKUR

    2013-06-01

    Full Text Available Folklore has a broad functional area. This function is also one of the first literary folklore products is encountered in language teaching. Folklore products, due to having too many functions, language teaching can be used as both vehicle and purpose. While folklore products, until children have learned the language, used as tool, they can be used as both vehicle and purpose to people have learned the language. Because language learning occurs in different ways, such as individuals with language learning languages learn other things. Only language teaching can be done with a normal text; but many of folklore products that belong to people who speak the language is transferred with with folk-arts text. There are products of folk culture, transfer of functions, regale, etc to give the values and moral education etc. Learning the language, the individual can obtain them. This transfer takes place in foreign language teaching as well as the teaching mother tongue. Folklore products can survive till now, and used in language teaching but they have become used more effectively in language teaching with transferring writing. Because these functions, as well as text to ensure the survival of folklore products must be present in textbooks. Folklore and culture can perform these functions with the Turkish textbook as a tool. In this study, students' textbooks in different provinces across the different folklore and cultural content of the texts in Turkish textbooks, teaching a language as a tool in terms of functions are investigated.

  20. "Holes": Folklore Redux.

    Science.gov (United States)

    Mascia, Elizabeth G.

    2001-01-01

    Demonstrates that a careful reading of the book for young adults, "Holes" by Louis Sachar, reveals how this contemporary story is grounded in folklore, and that it is this debt to folk literature that allows readers to accept an improbable plot. Shows how the story weaves together elements from traditional folk literature and stretches them across…

  1. Paper, Piles, and Computer Files: Folklore of Information Work Environments.

    Science.gov (United States)

    Neumann, Laura J.

    1999-01-01

    Reviews literature to form a folklore of information workspace and emphasizes the importance of studying folklore of information work environments in the context of the current shift toward removing work from any particular place via information systems, e-mail, and the Web. Discusses trends in workplace design and corporate culture. Contains 84…

  2. Folklore: A Bridge over Troubled Waters.

    Science.gov (United States)

    Solomon, Carol

    1971-01-01

    The use of a folklore unit in a high school English class is described. The major activity of the unit was the student's individual folklore project. For two weeks prior to the unit and throughout a week of introduction on aspects of folklore, each student worked at home on an individual folklore project. Among the aspects of folklore discussed…

  3. LANGUAGE, FOLKLORE AND WORLDVIEW AS A CONCEPTUAL BASIS OF ETHNOPHILOSOPHY

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    V. V. Petrova

    2015-01-01

    Full Text Available The article presents a study of the conceptual foundations of ethnophilosophy having the purpose of definitions of "ethnophilosophy" and mechanisms of its formation to support objectivity ethnophilosophy. It stresses the importance of linguistic-cultural aspect of history of formation of science. In today's study, the author also analyzes ethnophilosophy ideological beginning, the relationship of folklore and outlook. In conclusion, it is concluded significant problems of language and structure determination ethnophilosophy it as a science. The study of linguistic-cultural aspect goes with structural differentiation of ethnophilosophy knowledge. Communicative function inherent in folklore as a linguistic sign, leads to a dialectical antinomy with respect to autonomous linguistic sign. The duality of communicative and autonomous functions in folklore manifests itself in the process of formation of the philosophy of the people associated respectively with different age levels worldview. In conclusion, the author concludes that ethnophilosophy is a mutually balanced concept of material and ideal, or a dual relationship to reality, dualism, however ethnophilosophy adheres to the materialist line in its conceptual views and content. Modifications relation to reality play an important role in the oral-poetic creativity and structure ethnophilosophy (metaphysics, mythology, materialism, philosophy, science: in the whole structure of the existing tradition. Theoretical study of ethnophilosophy structure holds as a philosophical discourse is to represent the unity of the whole semantic structure and the scientific definition of the object of his research.

  4. Folklore: A Tapestry of Life.

    Science.gov (United States)

    Joseph, Linda C.

    2001-01-01

    Discusses the value of introducing folklore into the curriculum to help students learn about their sense of place in the community. Describes various pertinent Web sites, including the American Folklife Center of the Library of Congress, the American Folklore Society, and the Smithsonian Center for Folklife and Cultural Heritage. (LRW)

  5. Pharmacognostical and phytochemical studies of Curcuma neilgherrensis (Wight) leaf - A folklore medicine.

    Science.gov (United States)

    Shyam, Prasad M; Ramachandran, Anju P; Chandola, Harimohan; Harisha, C R; Shukla, Vinay J

    2012-04-01

    Curcuma neilgherrensis Wight is a folk medicinal plant used in the management of diabetes mellitus. The leaves of this herb are said to be successful in managing high blood glucose levels. This study is aimed at assessing the scientific appraisal of C. neilgherrensis in the course of pharmacognostical characters and phytochemical parameters, as these are not yet been done. Pharmacognostic study mainly covered the macroscopic and microscopic features of the leaves including powder microscopy, and revealed the presence of trichomes, spiral vessels etc. Phytochemical parameters such as pH, total ash value, water-soluble extract and MeOH extract values were assessed in the preliminary physicochemical screening. Qualitative analysis revealed the existence of certain chemical constituents such as flavonoids, tannins, organic acids and saponin glycosides. The crude extract of leaves was subjected to TLC and HPTLC for the separation of components.

  6. An Interpretation of Two Oromo Folklore Genres Integrated to ...

    African Journals Online (AJOL)

    2015-09-01

    Sep 1, 2015 ... to Enhance Skills, Knowledge, Attitude and Values in the. Student Text ... for new generation and also the Oromia cultural and ... important for further studies of Oromo folklore as ...... agriculture, social norms, moral, ethics and.

  7. "Early baby teeth": Folklore and facts.

    Science.gov (United States)

    Maheswari, N Uma; Kumar, B P; Karunakaran; Kumaran, S Thanga

    2012-08-01

    Variations in the newborns' oral cavity have been an enduring interest to the pediatric dentist. The occurrence of natal and neonatal teeth is a rare anomaly, which for centuries has been associated with diverse superstitions among many different ethnic groups. Natal teeth are more frequent than neonatal teeth, the ratio being approximately 3:1. The purpose of this case report is to review the literature related to the natal teeth folklore and misconceptions and discuss their possible etiology and treatment.

  8. The Study on the Development Mode of Folklore Archives Cultural Resources%民俗档案文化资源开发模式研究

    Institute of Scientific and Technical Information of China (English)

    薛金玲; 赵继臣

    2012-01-01

    Through the determination of concepts like folklore archives, six modes for developing folklore archives cultural resources are discussed in the following. They include holding the folklore cultural exhibition united with library and museum; creating brand of special folk custom art by means of folklore cultural concept; exploring folklore culture village from folklore archives stored in museum; taking advantage of publishing modes of folklore film and art works; adopting the mode of holiday celebration as well as the mode of historical cultural street blocks. This provides some references for the development of folklore cultural resources.%通过对民俗档案等概念的厘定,论述了开发民俗档案文化资源的六种模式:档案馆与图书馆、博物馆联合举办民俗文化展览;借民俗文化概念打造特色民俗艺术品牌;从馆藏民俗档案中发掘民俗文化村;民俗影音、文艺作品发行模式;节庆活动模式;历史文化街区模式。以此为民俗档案文化资源开发提供借鉴依据。

  9. TURKISH SHEPHERD DOG KANGAL IN SIVAS FOLKLORE

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    Aşkın YAŞAR

    2013-08-01

    Full Text Available As one of animals to which are approached with great sympathy by Turkishpeople, Kangal dogs are among the animals accepted sacred in Turkish folklore.Kangals as shepherd dogs were brought into Anatolia along with herds owned byOghuz clans the traditional livelihood of which depends on sheep herds. Being theoldest and most common race of natural shepherd dog, Turkish shepherd dog,Kangal, has survived with all characteristics of it mostly thanks to the matchlessprotection of local people of the town Kangal.Throughout the study, the main objective is to determine the folkloricknowledge related with Kangal raising within folklore of Sivas and to make somecontribution to Turkish world of culture.The research material has consisted of folkloric knowledge obtained between9th April-10th July, 2012 with “information review forms” applied to peopleassociated with folkloric veterinary medicine and animal husbandry in Sivas (e.g.medicine practitioners, animal owners, other resource persons, etc.In the study, it has been determined that raisers in Sivas folklore classify theKangals according to general racial characteristics, color of their pelt and tails ofthem. They are grouped as “kurtçul”, “saf”, “kırma”; and “alası-boz”, “karayaka”,“sarı yaka”, “boz yaka”, “kıllı”, “kırçıl”; and “kılıç kuyruk”, “kuyruğu eğri”, “kıvrakkuyruk”, based on racial characteristics, color of pelt and tails respectively. Also, ithas been gathered significant data on diseases and treatments on Kangals, generalracial standards (structure of the body, head and skull, etc., care and nutrition,estrus, delivery information, wolf choking incident, ear cut, stories, beliefs andidioms.Consequently, it can be suggested that one of reasons why Kangals havemanaged to keep its generation must be original stories and beliefs in Sivas, whichcover the Kangal`s wolf choke, intelligence, courage and loyalty; that lack ofknowledge

  10. Influencia India en el Folklor Mexicano (The Indian Influence on Mexican Folklore).

    Science.gov (United States)

    Leon Soto, Eron de

    1972-01-01

    This paper discusses the influence of Indian culture on the creation of Mexican folklore to the end that the inclusion of such knowledge in classes where students are studying Spanish as a second language will make those classes less formal, more interesting, and more meaningful. The author provides many examples of Indian cultural traditions…

  11. Los pasos del folklore colombiano. El folklore andino

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    Manuel Zapata Olivella

    1961-03-01

    Full Text Available El Bambuco y la Güabina representan el folklore de los Andes colombianos. Tres elementos muy definidos les caracterizan: la acentuada influencia española, la melodía y la copla inspirada. La raíz española la denuncian la guitarra y el tiple, entre los instrumentos; la danza, que no solo les asemeja a muchos bailes peninsulares, sino que los emparenta con la cueca chilena; el punto guanacasteco costarricense; el joropo venezolano; el huapango de México y en general, con el folklore mestizo de toda Hispanoamérica y por último, el acento hispano de la copla picaresca.

  12. The Nearly Forgotten Malay Folklore: Shall We Start with the Software?

    Science.gov (United States)

    Abd Rahim, Normaliza

    2014-01-01

    The study focuses on the nearly forgotten Malay folklore in Malaysia. The objectives of the study were to identify and discuss the types of Malay folklore among primary school learners. The samples of the study were 100 male and female students at schools in Selangor. The samples were picked at random from several schools and they were given…

  13. A Window of Chinese Folklore

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    PRESENI-DAY Chinese folk-lore is a window throughwhich one can see Chineseculture;one can see contemporarylife,but mostly one views traditional folk culture.China’s 5,000 years ofhistory,civilization,vast lands and national background have brought afascinating variety of local customsto China’s 56 nationalities.The fol-lowing is a brief introduction to their religious beliefs,sacrificial ritesand festive gatherings.

  14. Astronomical Context of Georgian Folklore

    Science.gov (United States)

    Jijelava1, Badri; Holbrook, Jarita; Simonia, Irakli

    2016-10-01

    Objectives: The religious Ancient megalithic monuments are accordingly o/riente to the ancient Gods - The Sun, Moon, luminaries. The aim of this work to research the ethnographic data, current folklore and based on the results, harmonize the ancient Gods and the orientations of the religious megalithic complexes. Methods/Statistical Analysis: We harmonized the ethnographical, folklore and historical information and restoration of ancient celestial sphere (using special astronomy application) and identified the correlations between the some acronychal or helical rising/set of luminaries and orientations of megalithic objects. Such connections are stored in a folklore. Findings: This technique of investigations gives us more clear understanding of ancient universe. Using this method, we can receive additional information about the ancient Gods - Luminaries, clarify current mythology, date the megalithic complex. Application/Improvements: This method of investigation - Harmonization cultural astronomy and archae or astronomy with the archeological investigations will be more fruitful, because it gives us reliable information concerning the ancient culture, ancient religion and ancient people.

  15. Dissemination of Values and Culture through the E-Folklore

    Science.gov (United States)

    Rahim, Normaliza Abd; Affendi, Nik Rafidah Nik Muhammad; Pawi, Awang Azman Awang

    2017-01-01

    This study focuses on the values and culture in the e-folklore. The objectives of the study were to identify and discuss the values in the song lyric "The Stork and the Mouse Deer." The song was taken from phone application in the compilation of the "Kingfisher stories" copyrighted by Dewan Bahasa and Pustaka. The e-folklore…

  16. Folklore-ethnographic festivals of Arkaim reserve-museum

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    Oksana Y. Mal’tseva

    2011-09-01

    Full Text Available ARKAIM Reserve-Museum is unique: deep and profound research has laid the grounds for sophisticated study of Chelyabinsk region. Today, the popularity of Folklore-Ethnographic Festivals is explained trough its authentic, quality of materials given to participants and diversified programs.

  17. Folklore in the Junior College Library

    Science.gov (United States)

    Lonergan, David; McHone-Chase, Sarah

    2010-01-01

    Many community colleges are located near rural areas where significant folkloric research could be done. Community college librarians may be pleasantly surprised to find many of the standard folkloric resources on their reference shelves. In addition, folklorists may be professors of English, anthropology, history, sociology, art, or music, who…

  18. Polynesian Folklore: An Alternative to Plastic Toys.

    Science.gov (United States)

    Black, Sharon; Wright, Thomas; Erickson, Lynnette

    2001-01-01

    Argues that folklore goes beyond plastic toys and popular media symbols to share the humanness of a people. Suggest ways to use Polynesian folklore (nature fables, tales, and legends) to deepen children's understanding of Polynesian culture. Reviews specific stories, references juvenile collections, and offers classroom activities. (SR)

  19. Sleep paralysis and folklore.

    Science.gov (United States)

    Cox, Ann M

    2015-07-01

    Sleep paralysis is a relatively new term to describe what for hundreds of years many believed to be a visitation by a malevolent creature which attacked its victims as they slept. The first clinical description of sleep paralysis was published in 1664 in a Dutch physician's case histories, where it was referred to as, 'Incubus or the Night-Mare [sic]'. In 1977, it was discovered more than 100 previously healthy people from various South East Asian communities had died mysteriously in their sleep. The individuals affected were dying at a rate of 92/100,000 from Sudden Unexplained Nocturnal Death Syndrome. No underlying cause was ever found, only that subsequent studies revealed a high rate of sleep paralysis and belief in the dab tsog (nightmare spirit) amongst members of the community. The nightmare/succubus is descended from Lilith. The earliest reference to Lilith is found in the Sumerian King list of 2400 BC known as Lilitu or she-demon, she bore children from her nocturnal unions with men. In other derivations, she was Adam's first wife who rather than 'obey' became a demon that preyed on women during childbirth. In modern Middle Eastern maternity wards, some women still wear amulets for protection. Today, clinical cause of these disturbances is sleep paralysis due to the unsuitable timing of REM sleep. During the 'Nightmare' episode, the sleeper becomes partially conscious during REM cycle, leaving the individual in a state between dream and wakefulness. For some, culture and the tradition of the nightmare is explanation enough.

  20. Folklore, creativity, and cultural memory

    DEFF Research Database (Denmark)

    Glaveanu, Vlad Petre

    This paper addresses the question of how folk art can be, simultaneously, a vehicle for cultural memory and cultural creativity. It takes the case of Romanian Easter egg decoration as a practice situated at the intersection between art, folklore, religion and a growing market, it order to unpack...... from an early age. At the core of this practice stands the depiction of patterned ornaments known as motifs. These ornaments are constitutive of identity and memory and their decorative features facilitate and encourage the creative expression of folk artists. Tradition in this sense is not by any...... means the opposite of creativity but the actual vehicle of creative activity and its understanding as a stable cultural system ‘engraved’ in collective memory needs to be challenged. The tradition of egg decoration in Romania is a living and evolving social practice that engages the self and community...

  1. Folklore, creativity, and cultural memory

    DEFF Research Database (Denmark)

    Glaveanu, Vlad Petre

    This paper addresses the question of how folk art can be, simultaneously, a vehicle for cultural memory and cultural creativity. It takes the case of Romanian Easter egg decoration as a practice situated at the intersection between art, folklore, religion and a growing market, it order to unpack...... from an early age. At the core of this practice stands the depiction of patterned ornaments known as motifs. These ornaments are constitutive of identity and memory and their decorative features facilitate and encourage the creative expression of folk artists. Tradition in this sense is not by any...... means the opposite of creativity but the actual vehicle of creative activity and its understanding as a stable cultural system ‘engraved’ in collective memory needs to be challenged. The tradition of egg decoration in Romania is a living and evolving social practice that engages the self and community...

  2. 论桂学研究的民俗学理论与方法论基础--桂学理论与方法论研究之七%Folklore Theory and Methodology Bases for the Study of Guangxi---The Seventh Study of Theory and Methodology for the Study of Guangxi

    Institute of Scientific and Technical Information of China (English)

    张利群

    2014-01-01

    桂学研究作为广西地方之学,民俗研究应该是其重要内容。广西民俗事象和现象早在历代地方史志及其文献典籍就有所记载,刘恂《岭表录异》、范成大《桂海虞衡志》等开始广西民俗研究先河,现代民俗学研究进入黄金时期。民俗学理论与方法论坚持田野作业的实证性研究原则,坚持文献研究方法的考证、印证原则,坚持民俗的“民”与“俗”特征及其价值取向性,这既有利于民俗学研究的学术指向与现实应用意义,也有利于夯实桂学研究的民俗学理论与方法论基础。%As a study of Guangxi local, the Study of Guangxi should take folklore as its important content. The record of Guangxi folklore events and phenomenon can be dated back as early as the Tang dynasty and Song dynasty. Liu Xun’s Mountain Range Record and Fan Chenda’s GuiHai YuHeng Record herald the folklore study of Guangxi, and modern folklore study has entered the Golden Age. Folklore theory and methodology adheres to the principle of field work of empirical research, adheres to the principle of textual research and verifying of literature study, adheres to the characteristics of "people" and "custom" and their value orientation. It is helpful for the academic orientation of folklore and has practical application significance, and it strengthens the study of Guangxi folklore theory and methodology.

  3. Nenets Folklore in Russian: The Movement of Culture in Forms and Languages

    Directory of Open Access Journals (Sweden)

    Karina Lukin

    2008-09-01

    Full Text Available In this methodological article the question of authenticity of folklore material is discussed. The article deals mainly with the research history of Nenets folklore studies and examines critically two of its paradigms, namely the so-called Finno-Ugric paradigm and the Soviet studies. It is argued that in these paradigms there existed biases that prevented the students to study certain kind of folklore material. The biases were related to the language and the form of the material: due to these biases folklore performed not in Nenets and not in forms defined traditional were left outside collections and research. Furthermore, it is shown that Russian speech and narratives embedded in speech are part of Nenets everyday communication and thus also material worth studying and collecting. Instead of the criticised paradigms the Nenets discourse is examined within the notions of communication centered studies that have gained attention since the 1980s.

  4. The hand in Irish legend and folklore.

    Science.gov (United States)

    Mooney, E E; Prendiville, J B

    1991-06-01

    A brief review of the significance of the hand in the mythology, folklore, and religion of Ireland from ancient times is presented. Many of these accounts are also found in the history and legends of other Celtic countries.

  5. Mapping Folklore Concepts in Bilingual Processing:Cognitive Analysis

    Institute of Scientific and Technical Information of China (English)

    凌冰

    2012-01-01

      The present study applies Dr. He Yuanjian’s CMT (Conceptual Mapping Theory) to focus on the strategy use of translating Chinese folklore concepts in Hong Lou Meng (i.e. indigenous concepts related to etiquettes and customs) by Yang Xianyi and his wife Gladys Yang on the observations of the translators’strategies and the distributional tendencies of translation strategies so as to testify CMT on empirical grounds. Whether it holds true that the preservation of the alien source concepts through translation depends on how successfully they are mapped into the target conceptual system leads to the attempts to study on the distributional tendency of translation strategies of translation tasks, especially, of translating folkloric concepts in this paper. As a result, the tentative outcome of the data observed supports that the concept-mediation theoretic approach to translation pro⁃cess seems able to account for how cognitive constraints affect the production of mapping the unshared concepts.

  6. From Genre Poetics to Structure: Nada Milošević-Đorđević's Contribution to Serbian Structural Folklore Studies

    Directory of Open Access Journals (Sweden)

    Dragana Antonijević

    2016-02-01

    Full Text Available This paper looks at the structural analyses of the composition of several oral literary genres in Serbian literature performed by Prof. Nada Milošević- Đorđević. By analyzing romantic tales, religious tales, tales of fate and sagas, Milošević-Đorđević, a renowned Serbian folklore scholar, has made original contributions to narrative semiotics and syntagmatic analysis. Taking as her starting point the morphology of Vladimir Propp but also of some other semioticians, she revised his narrative scheme, adapting it to the specific characteristics of these literary genres and also proposing an entirely original scheme for religious tales and tales of fate, thus becoming one of the first literary folklorists in Serbia to apply structural analysis.

  7. Folklore and Folk Songs of Chittagong: A Critical Review

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    Amir Mohammad Khan

    2017-04-01

    Full Text Available Folk Songs stems from Folklore are very rich in the southern region of Chittagong. In this part of the world Folk Songs play pivotal role in the lifestyle of people as a heart-touching and heavenly connection exists between human, nature and Folk Songs. Folk Songs in this area are special because we found the theme of Nature Conservation in them. We took the southern part of Chittagong (Lohagara, Satkania, Chandanaish and Patiya as our research area, selected a village namely Chunati in the systematic sampling and more than 100 people were interviewed through focus group discussion and key informant interviews. The sufficient literature review is also done. People in this area love nature a lot. Here music personnel were born from time to time who not only worked for the musical development but also created consciousness among people to love nature and save it. We discussed about the origin of Folk Songs, pattern of Folk Songs to clarify the importance of Folk Songs of Chittagong for its connection to Folklore and at the same time for promoting the idea of Nature Conservation. Of course, this part of studies deserves more attention in the field of research. Our ultimate goal should be to conserve and promote Folk Songs of Chittagong with yearlong heritage that automatically will later enrich Folklore and Nature Conservation.

  8. Revista de Folklore

    Directory of Open Access Journals (Sweden)

    Díaz, Joaquín

    2002-06-01

    Full Text Available The author, founder and chief underwriter of Revista de Folklore, voices his view of the world of research of traditional culture, as well as the aims he pursued in founding one of the journals of folklore of longest standing in Spain.

    El fundador y principal sostenedor de la Revista de Folklore plantea en este escrito su visión personal sobre el mundo de la investigación acerca de la cultura tradicional y los objetivos que se fijó al emprender la publicación de una de las revistas especializadas más largas y continuas con que contamos en España.

  9. Electronic folklore among teenagers: SMS messages

    Directory of Open Access Journals (Sweden)

    Cvjetićanin Tijana

    2006-01-01

    Full Text Available The development of ICT media made way for a new form of folklore communication. Newly developed media, such as mobile phones, make it possible for their users to participate in electronically mediated communication, thus approaching the form of oral communication. The exchange of special type of SMS text messages represents a new way of transmitting contemporary folklore short forms. These messages use poetic language, they have standard style themes, patterns and formulas, and they form different genres and categories corresponding with already existing familiar folklore forms. The communication process that happens during the exchange of these messages also has folklore’s characteristics: it takes place within small groups, the communication is informal, the texts circulate in chain style, and undergo different transformation which generates the making of variants, etc. This form of electronic folklore is especially popular among teenagers, where it’s social functions and meanings are also most emphasized. Within this population, it adds to an older tradition of children’s written folklore poetry albums. Like poetry albums, SMS exchange influences the development of girls’ gender identity, providing also a socially defined channel for contacts between the sexes. It also functions as a mechanism of socialization and stratification within the group. At the same time, it creates a new field of meaning, which derives from the very media’s novelty and significance. In this sense, the exchange of SMS represents a symbolic act of acknowledging one’s belonging to the group of mobile telephone users. In this way, a new phenomenon is being symbolically processed through a new form of folklore.

  10. Declaraciones patrimoniales, turismo y conocimientos locales: Posibilidades de los estudios del folklore para el caso de las ferias en la quebrada de Humahuaca (Jujuy-Argentina Patrimony Statements, Tourism and Local Knowledge: Folklore Studies Posibilities in Quebrada de Humahuaca Fairs Case (Jujuy - Argentina

    Directory of Open Access Journals (Sweden)

    Liliana Bergesio

    2010-12-01

    look its own alternatives to attract visitors. The most common strategies include fairs and festivals seeking to highlight particular characteristics. In this study we will analize the case of Coctaca town (Humahuaca department, and also an eventa being done there in febraury, wich includes "Flavors of History" fair, the "Andean Women Meeting", and the "Serenade to the Cultivation Terraces". The objective of this study is to raise the possibilities that studies of folklore provide inside topis as the local and the global, culture and economy, the producers and their products and tourism with its demands and expectations.

  11. The Dance of Spain: Classical Folkloric Flamenco.

    Science.gov (United States)

    Gallant, Clifford J.

    A text on the classical and folk dance of Spain includes a pretest, provided in both English and Spanish; text about the dance in general and the dance of Spain, both classical and folkloric; tests on the text, in both English and Spanish; more specific readings about the traditions of flamenco, castanets, and "el jaleo"; a glossary of…

  12. Confronting Common Folklore: Catching a Cold

    Science.gov (United States)

    Keeley, Page

    2012-01-01

    Almost every child has experienced the sniffly, stuffy, and achy congestion of the common cold. In addition, many have encountered the "old wives tales" that forge a link between personal actions and coming down with this common respiratory infection. Much of this health folklore has been passed down from generation to generation (e.g., getting a…

  13. Folklore of the Tibetans In Chawalung

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    Chawalung is a small town lying on a transport hub linking Zayu of Tibet with Gongshan of Yunnan Province. It is home to theTibetan, Dulong, Nu, Lili, Naxi and some other ethnic minorities. They maintain a varied folklore that finds concentrated expression in their diet, living habits, clothing, wedding ceremonies and religious beliefs.

  14. The Galileo Legend as Scientific Folklore.

    Science.gov (United States)

    Lessl, Thomas M.

    1999-01-01

    Examines the various ways in which the legend of Galileo's persecution by the Roman Catholic Church diverges from scholarly readings of the Galileo affair. Finds five distinct themes of scientific ideology in the 40 accounts examined. Assesses the part that folklore plays in building and sustaining a professional ideology for the modern scientific…

  15. Empowering the Older Adult through Folklore

    Science.gov (United States)

    Warner, Dorothy Anne

    2006-01-01

    An opportunity exists for those working with older adults in nursing homes to significantly encourage independence in the older adult using a creative approach. The use of folklore is suggested as a means for assisting the older adult toward a reconnection with the individuation process.

  16. Confronting Common Folklore: Catching a Cold

    Science.gov (United States)

    Keeley, Page

    2012-01-01

    Almost every child has experienced the sniffly, stuffy, and achy congestion of the common cold. In addition, many have encountered the "old wives tales" that forge a link between personal actions and coming down with this common respiratory infection. Much of this health folklore has been passed down from generation to generation (e.g., getting a…

  17. Folklore and the College Selection Process Revisited

    Science.gov (United States)

    Caruso, Pete

    2012-01-01

    This paper is a response to Clinton F. Conrad's article, "Beyond the Folklore." Conrad's strategy for assessing undergraduate quality echoes the sentiments espoused by many admission and college counseling professionals over the years at various workshops for students and families that focus on navigating the process. As transcendent as the…

  18. ROMANIAN FOLKLORE MOTIFS IN FASHION DESIGN

    Directory of Open Access Journals (Sweden)

    MOCENCO Alexandra

    2014-05-01

    Full Text Available The traditional Romanian costume such as the entire popular art (architecture, woodcarvins, pottery etc. was born and lasted in our country since ancient times. Closely related to human existence, the traditional costume reflected over the years as reflected nowadays, the mentality and artistic conception of the people. Today the traditional Romanian costume became an inspiration source to the wholesale fashion production industry designers, both Romanian and international. Although the contemporary designers are working in accordance with a vision, using a wide area of styles, methods and current technology, they usually return to traditional techniques and ethnic folklore motifs, which converts and resize them, integrating them in their contemporary space. Adrian Oianu is a very appreciated Romanian designer who launched two collections inspired by his native’s country traditional costumes: “Suflecata pan’ la brau” (“Turned up ‘til the belt” and “Bucurie” (“Joy”. Dorin Negrau had as inspiration for his “Lost” collection the traditional costume from the Bihor region. Yves Saint Laurent had a collection inspired by the Romanian traditional flax blouses called “La blouse roumaine”. The paper presents the traditional Romanian values throw fashion collections. The research activity will create innovative concepts to support the garment industry in order to develop their own brand and to bring the design activities in Romania at an international level. The research was conducted during the initial stage of a project, financed through national founds, consisting in a documentary study on ethnographic characteristics of the popular costume from different regions of the country.

  19. ‘Have You Come to Take the King Away?’: A Survey of Archaeology and Folklore in Context

    Directory of Open Access Journals (Sweden)

    Tina Paphitis

    2013-09-01

    Full Text Available The past two decades have seen a significant increase in archaeological investigations implicitly, or explicitly, encompassing folkloric material. Many such publications begin with a brief mention of the early historical connection between the two disciplines via antiquarianism, and the problems and possibilities of engaging with folklore in archaeological research. However, it is apparent that many archaeological researchers have little or no understanding of the historical, theoretical and methodological development of folklore or its close relation to archaeology - thus limiting potential engagement and generating (sometimes invalid assumptions about folkloric materials and folklore as a discipline. Through a case study of an archaeological site with a long and rich folkloric history, this paper will explore the almost identical development of the two disciplines, and their shifting interaction in relation to disciplinary changes and the socio-political contexts. It will also provide some key references for researchers wishing to study the subject further with the hope that better-informed critiques will demonstrate the potential for collaboration between the two disciplines.

  20. Tula song folklore: genre-stylistic and dialectic peculiarities

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    Krasovskaya Nelli Alexandrovna

    2016-06-01

    Full Text Available The article analyzes the works of Tula folklore recorded in the western part of the Tula region, in terms of genre, stylistic and linguistic features. The relevance of the study is related to the fact that Tula folk songs has not been studied, linguistic features of the works are not subjected to serious analysis. The article describes the features of the genre of songs recorded in Belevsky district of Tula region, including the ancient fortunetelling chants, wedding ceremony songs, romantic ballads etc., it is cited numerous examples in the lyrics that reflect the dialectal features of the phonetic, grammatical, lexical levels. According to the authors, a modern folk song genre retains its diversity and is a kind of storeroom containing priceless linguistic wealth. The analysis allows to draw conclusions about the presence and well-preserved in the recorded music of South Russian dialect phonetic and grammatical features. So far, there is no established typology of Tula dialects, therefore, according to the authors, the fixation of folklore in the territories bordering on Tula dialects, is very important and interesting for further descriptive and comparative work on identifying the eastern and south-south-west differences in Tula dialects.

  1. Traditional Asian folklore medicines in sexual health

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    Peter Lim Huat Chye

    2006-01-01

    Full Text Available Erectile dysfunction is one of the important health problems affecting man and his partner. Recently, many treatments have evolved for the treatment of erectile dysfunction or sexual health. Of the available treatments several are pharmacologically proven and tested medications. However, in Asia, there are significant users of unproven medications for sexual health. These medications are traditionally used by the folklore living in the countryside. These untested medications may have a profound effect on the body system and their interactions with other medications may be harmful. However, comprehensive accounts of such medications are unavailable. This paper descriptively highlights the common medications used for sexual health in Asia.

  2. Unleashing the Power of Teenage Folklore: Research To Investigate the Power of Storytelling.

    Science.gov (United States)

    Doll, Carol A.; Benedetti, Angelina; Carmody, Barbara; Reynolds, Tom; Brantigan, Nanna; Wilson-Lingbloom, Evie

    2001-01-01

    Describes a study that investigated the effect teenage folklore storytelling has on the self-esteem of adolescents; its effect on building oral communication and storytelling skills; adolescent perceptions of the media center and public library; and cooperative ventures between school library media specialists and public librarians. (Contains 95…

  3. American Folk Music and Folklore Recordings 1986: A Selected List.

    Science.gov (United States)

    Place, Jeffrey; And Others

    Much of the heritage of the United States has been preserved in folk music and folklore. The recordings presented in this list have been instrumental in preserving this heritage and serve as valuable resources for students, teachers, and libraries. These recordings were selected by a panel of experts in the fields of folklore and ethnomusicology.…

  4. Beyond Mulan: Rediscovering the Heroines of Chinese Folklore.

    Science.gov (United States)

    Li, Suzanne D.

    2000-01-01

    Notes how sadly the Disney treatment of the story of Mulan reduced both the character Mulan and the story's broad appeal. Presents and critiques four picture book versions of the Mulan legend. Discusses 16 picture books of original folklore based on authentic Chinese sources. Concludes with criteria for evaluating Chinese folklore in picture…

  5. Folklore and the Liberal Arts

    Science.gov (United States)

    Brodie, Ian

    2012-01-01

    In this article, the author argues that the content of what folklorists study pervades all avenues of human interaction, from the food court to the lecture hall, and adverting to the seemingly negligible, interstitial, and ephemeral moments of informal communication is not only fruitful but a necessary complement to the liberal arts. These four…

  6. Folklore y lingüística

    OpenAIRE

    Montoro del Arco, Esteban Tomás

    2010-01-01

    El Folklore es un movimiento erudito europeo que surge en el último tercio del siglo XIX con el objetivo de estudiar desde un punto de vista científico los conocimientos y manifestaciones más genuinas del pueblo. Coincide con los comienzos de la Antropología y de la Etnografía, y aunque se basó en las ideas románticas de nación y pueblo, asumió al mismo tiempo las ideas más avanzadas de la época, como el Positivismo y el Evolucionismo social. Dado su interés por las formas de expresión popula...

  7. [Folklore and popular medicine in the Amazon].

    Science.gov (United States)

    Henrique, Márcio Couto

    2009-01-01

    This discussion of the relations between folklore and popular medicine in the Amazon takes Canuto Azevedo's story "Filhos do boto" (Children of the porpoise) as an analytical reference point. Replete with elements of cultural reality, folk tales can serve as historical testimonies expressing clashes between different traditions. Folk records are fruit of what is often a quarrelsome dialogue between folklorists, social scientists, physicians, and pajés and their followers, and their analysis should take into account the conditions under which they were produced. Based on the imaginary attached to the figure of the porpoise--a seductive creature with healing powers--the article explores how we might expand knowledge of popular medicine as practiced in the Amazon, where the shamanistic rite known as pajelança cabocla has a strong presence.

  8. The Folklore of Naming: Using Oral Tradition to Teach Writing.

    Science.gov (United States)

    Simons, Elizabeth Radin

    1984-01-01

    Students like to use their own names as the basis of writing projects because of their strong feelings and firsthand experiences with names, the folklore of names, and because they appreciate having their lives brought into the classroom. (CRH)

  9. Childbirth in ancient Rome: from traditional folklore to obstetrics.

    Science.gov (United States)

    Todman, Donald

    2007-04-01

    In ancient Rome, childbirth was a hazardous event for both mother and child with high rates of infant and maternal mortality. Traditional Roman medicine centred on folklore and religious practices, but with the development of Hippocratic medicine came significant advances in the care of women during pregnancy and confinement. Midwives or obstetrices played an important role and applied rational scientific practices to improve outcomes. This evolution from folklore to obstetrics was a pivotal point in the history of childbirth.

  10. Folklore tourism: a case study Chodsko

    OpenAIRE

    Opička, Radek

    2013-01-01

    The objective of bacalary work is to demarcate a Chodsko region for using in tourism sphere with the conservation of etnographic aspect of region. It is there dealing with a question of tourist profile, tourist behaviour and his influence to local environment. A socio- cultural environment is threated through negative tourism phenomenons and processes. Positive tourism phenomenons and processes reinforce a socio-cultural environment and help to keep a local traditions. The top of influence of...

  11. Importancia del folklore musical como práctica educativa

    Directory of Open Access Journals (Sweden)

    Arévalo, Azahara

    2009-06-01

    Full Text Available Educational society of today should reflect on the importance of musical folklore as an educative practice. This paper contents a reflection about folklore and different educative practices taking as examples some musical pieces from Jaen’ Song Book. These kinds of practices are essential since they develop the quality of the learning process in general and the learning of music in particular. Nowadays, the school is the unifier mean for the reappraisal, communication and transmission of the folklore of our culture. Recovering our folklore is a task that depends on every member of the community and it can be possible through the updating of these musical pieces to the new social changes and its possible spreading through the media. Jaen’ Song Book may constitute a mean for promoting its folklore among students of this province. The learning of this repertoire may also serve as an open door to the World to know the labor that is done in our schools. This paper tries to make teachers conscious that the use of folk materials may improve the learning of music as well as it may unfold a new way for future didactic, cultural and anthropological researches.

  12. Urban Legends – American and/or Global Folklore

    Directory of Open Access Journals (Sweden)

    Ivan Kovačević

    2016-03-01

    Full Text Available Development of modern technology, foremostly that of the Internet, has made feasible and, up to now, unimaginable reciprocity in the field of anthropological research. If only the wealthy scientific communities were be privy to a global research, while the rest of the world was deprived, the fast flow of information has made possible that each of its users be in the possession of relevant information for the study of, until now, unapproachable turfs, such as the US. Urban legends epitomize a paramount illustration of the possibility of examining American folklore from any world viewpoint, not least Serbia. That is possible for urban legends generated in America, are disseminated through the classic channels of globalization, and through the aforementioned World Wide Web. The study of urban legends activates reflexivity of traditional anthropological subject – diffusion, in the shape of dissecting reception and evolution of pursuit of generating native urban legends. Such a stance is taken by the study of urban legends in Serbia.

  13. Danish TV Christmas calendars: Folklore, myth and cultural history

    DEFF Research Database (Denmark)

    Agger, Gunhild

    2013-01-01

    in which this traditional genre has succeeded in renewing itself. The so-called Pyrus series, TV 2’s Christmas calendars during the mid-1990s, exhibited folklore, myth and cultural history in a combination of entertainment and information. They were succeeded by calendars such as Jul i Valhal......This article aims at characterizing the Danish Christmas calendar as a TV institution and a meeting place for the traditions of the almanac, folklore and the history of culture. Against the background of a brief outline of the history of Danish Christmas calendars, the article explores ways...

  14. A Simple Proof of a Folklore Theorem about Delimited Control

    DEFF Research Database (Denmark)

    Biernacki, Dariusz; Danvy, Olivier

    2006-01-01

    We formalize and prove the folklore theorem that the static delimited-control operators shift and reset can be simulated in terms of the dynamic delimited-control operators control and prompt. The proof is based on small-step operational semantics.......We formalize and prove the folklore theorem that the static delimited-control operators shift and reset can be simulated in terms of the dynamic delimited-control operators control and prompt. The proof is based on small-step operational semantics....

  15. Early Years Education and the Value for Money Folklore

    Science.gov (United States)

    Campbell-Barr, Verity

    2012-01-01

    This article is intended as a contribution to the debate on the role of human capital in determining value for money in early years education. The article explores how the idea that early years education offers value for money has become folklore amongst policymakers and more widely. However, drawing on both interview data and existing literature…

  16. Folklore and Culture as Literacy Resources for National Emancipation

    Science.gov (United States)

    Olajide, Stephen Billy

    2010-01-01

    Literacy counts a lot for development and progress. Efficient literacy induces and sustains good governance. Hence, all nations strive to attain balanced literacy. However any literacy programme that ignores the context of operation is not likely to be very successful. This paper canvasses that folklore and culture are essential ingredients for…

  17. Early Years Education and the Value for Money Folklore

    Science.gov (United States)

    Campbell-Barr, Verity

    2012-01-01

    This article is intended as a contribution to the debate on the role of human capital in determining value for money in early years education. The article explores how the idea that early years education offers value for money has become folklore amongst policymakers and more widely. However, drawing on both interview data and existing literature…

  18. ′′Early baby teeth′′: Folklore and facts

    Directory of Open Access Journals (Sweden)

    N Uma Maheswari

    2012-01-01

    Full Text Available Variations in the newborns′ oral cavity have been an enduring interest to the pediatric dentist. The occurrence of natal and neonatal teeth is a rare anomaly, which for centuries has been associated with diverse superstitions among many different ethnic groups. Natal teeth are more frequent than neonatal teeth, the ratio being approximately 3:1. The purpose of this case report is to review the literature related to the natal teeth folklore and misconceptions and discuss their possible etiology and treatment.

  19. The transformation of contemporary analyses of oral folklore: Fairy tale versus fantasy

    Directory of Open Access Journals (Sweden)

    Otčenášek Jaroslav

    2010-01-01

    Full Text Available The study focuses on contemporary forms of folklore and their relationship to literary forms like Fantasy, Sci-fi, Horror and Fantasy Game. The first problem is the specification of the terms and the classification of the internal structure of these terms. A typical structure of contemporary oral folklore, such as urban legends, is a combination of classical forms of folklore (subject matter from fairy tales, anecdotes etc. and the influence of films, television and books. This contamination is really typical for postmodern culture. Fantasy stories can de divided into five categories - 1. alternative history (variants of past history or future evolution; 2. classical fantasy (variants of mythology or classical fairy tales or legends; 3. parody of fantasy or humour fantasy (the fantasy world is mostly only background; 4. urban fantasy (more or less a part of urban legend; 5. comics (the importance of graphic form - Superman, Batman etc.. Sci-fi and horror stories are mostly literary products influenced by classical legends or urban legends. Party games, especially “Dungeons & Dragons”, and their enactments by fans are a special part of the fantasy world. Ethnologists are faced with the questions of which method to use to carry out field research and what is actually relevant. Based on the first experiences we can see that for the research into this “new” field we can use the standard methods without problems. But for a better understanding we need to read fantasy, sci-fi and horror books, watch fantasy, sci-fi and horror movies, and get acquainted with the websites related to fantasy or sci-fi content. For a good analysis of fantasy party games one needs to become a member of a gamers’ group. The use of modern recording equipment like digital video cameras and cameras etc. is also very important.

  20. Danish TV Christmas calendars: Folklore, myth and cultural history

    DEFF Research Database (Denmark)

    Agger, Gunhild

    2013-01-01

    This article aims at characterizing the Danish Christmas calendar as a TV institution and a meeting place for the traditions of the almanac, folklore and the history of culture. Against the background of a brief outline of the history of Danish Christmas calendars, the article explores ways...... in which this traditional genre has succeeded in renewing itself. The so-called Pyrus series, TV 2’s Christmas calendars during the mid-1990s, exhibited folklore, myth and cultural history in a combination of entertainment and information. They were succeeded by calendars such as Jul i Valhal....../‘Christmas in Valhalla’ (2005), Absalons hemmelighed/‘The Secret of Absalon’ (2006), Mikkel og guldkortet/‘Mikkel and the Golden Card’ (2008) and Pagten/‘The Covenant’ (2009). Some of these added cultural criticism to the repertoire of the genre....

  1. Folklore as a map of the world: rejecting "home" as a failure of the imagination.

    Science.gov (United States)

    Lawless, Elaine J

    2011-01-01

    For years, I felt that my negative feelings about "home" were completely justified and that I saw no redemption in the area or the people whom I associated with "home." That is not to say that I do not love my family, but there was never any effort on my part to salvage or imagine whatever could have been viewed as—at the very least—constructive and positive about my "home" or how my home and childhood created the blueprint for my own personal "map of the world." I now believe that my rejection of home is actually a failure of my own imagination. In this article, I explore the ways in which I see folklore as constituting a map of our individual and collective world(s)—a comprehensive, if not always a comprehensible, map of our world, one that is often difficult to discern. I have taken the approach that I need to recover the various aspects of the maps my home offered to me, noting first their existence, then their utility, and finally, by extension, exploring how my personal project has become a way for me to rethink folklore as a kind of reconstituting enterprise.

  2. The Creation of the Indianist Week. Indianness, Folklore and Nation in Bolivia

    National Research Council Canada - National Science Library

    Cecilia Wahren

    2014-01-01

    ... concomitant transformation of the conceptions of Bolivian identity, Indianness and folklore, contributing to the formation of ambivalent representations, typical in the particularities of the Bolivian...

  3. Folklore motives in the early compositions of Nikola Borota - Radovan

    Directory of Open Access Journals (Sweden)

    Jovanović Jelena

    2014-01-01

    Full Text Available The creative work of Nikola Borota - Radovan (musician, composer, lyricist, arranger and record producer, based in New Zealand - formerly from Yugoslavia held a specific place in development of world music (polygenre in his native homeland in the early 1970s. This study focuses on his creative principles, applied to works published between the years 1970 and 1975 (while the role of these works in social, cultural and political context of the time and place will be elaborated in another study, see Jovanović 2014. The platform established to present this unique musical approach authenticaly was called kamen na kamen (a studio and stage outfit that has included number of collaborations over many years. Based on the musical models and aethetics of the folk revival and created under influence of The Beatles’, in adition to many other popular music production directions of the era, Borota’s works reveal significant musical, performance and production qualities, innovative expression and musical solutions, that need to be percieved from the contemporary (ethnomusicological point of view. Despite the fact that many prominent creative Yugoslav musicians of the time also worked within a similar framework I would argue that Mr. Borota’s creative outcome was signifficantly different from other Yugoslav popular music creative efforts. This is particularly noticeable in the author’s unique treatment of South-European and other folklore motives, which is the main topic of this study. Folk (ethnic idioms exploited by Mr. Borota in his compositions originate from the rural traditions of western Dinaric regions. This is especially true for the rhythmic formations of deaf or silent dance; for the semi-urban and urban tradition of the Balkans and the Mediterranean; Middle European traditions; traditions from non-European peoples; elements of Italian Renaissance; and international (mostly Anglo-American musical models. Compositions are analysed partly in

  4. Disturbance of Native Americans as Reflected in Selected Folkloric Poems of Luci Tapahonso, Joy Harjo and Simon Ortiz

    Directory of Open Access Journals (Sweden)

    Widad Allawi Saddam

    2016-12-01

    Full Text Available As a result of colonialization  and assimilation, the natives were disturbed between past and present. Adopting the colonizer culture, style of life, language and changing home place come together in the mind of Native American people and lead them to be confused; they intermingle between past and present. They want to be themselves but the colonizer wants them to be the others. This feeling of disturbance affected Native American people, especially the chosen poets for this study. This paper shows how Native American people reflect their disturbance toward the colonization in their folkloric poetry. It explains how each element of folklore represents their disturbance towards the colonizer’s dominant culture. This paper will be done under postcolonial framework utilizing Frantz Fanon’s second views about the natives. Disturbance follows assimilation and they together forced Native Americans to present fighting literature which shows the third phase of Fanon.  Keywords: assimilation, disturbance, Native Americans, Frantz Fanon, folklore

  5. The Concept of Love in Lithuanian Folklore and Mythology

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    Doc dr. Daiva Šeškauskaitė

    2013-06-01

    Full Text Available Love is a reserved feeling, meaning amiability and complete internecine understanding. The concept of love has always been important for human world outlook and attitude. Love can have different meaning and expression – for some people it is a nice, warm feeling, a way of action and behaviour, for others it is nothing more than a sexual attraction. As there are different perceptions of love, there also exist few common love manifestations: love can be maternal, childish, juvenile, sexual. Love can also be felt for a home land, own nation, home. Naturally love can be expressed through the particular rituals, symbols and signs. Folk songs introduce four main lover characteristics: beauty, sweetness, kindness and boon. The later feature means that a girl/ boy is supposed to be well-set, to be pleasant and comfortable to touch which is very important when choosing a wife or a husband. Love in folklore is expressed through the common metaphorical and allegorical symbols, it doesn‘t sound as explicit word – more like a metaphor or epithet. Love in folklore can be perceived and felt very differently. Love like an action – love like... special person, essential possession. Prime personal characteristics, such as kindness, tenderness, humility, are the ones to light the love fire as well as beauty, artfulness, eloquence also help. Love is supposed to lead to the sacred sacrament of marriage. Love, if real, is a serious subject. Love is worth dying for. Strong love leads to self-sacrifice. Fairy tales satirize infidelity stressing that love is right only between a wife and a husband while other options are considered as inglorious and wrong. Love, as an incest, is also common in our folklore.

  6. Folklore, Literature, Ethnography, and Second-Language Acquisition: Teaching Culture in the ESL Classroom

    Science.gov (United States)

    Gholson, Rachel; Stumpf, Chris-Anne

    2005-01-01

    Recognizing that to learn about culture will aid the new Canadian in attaining cultural awareness, this article argues that it is imperative to develop strategies for teaching about culture. Using folklore as a critical methodology in the ESL classroom is such a strategy. Because folklore is an intrinsic part of everyday life, its use promotes and…

  7. "Once Upon a Time There Was a Saint…": Re-evaluating Folklore in Anglo-Latin Hagiography.

    Science.gov (United States)

    Powell, Hilary

    2010-07-05

    This article examines methods for identifying folklore in hagiography. Using hagiographical materials from eleventh and twelfth century England, it critiques the current trend of equating folklore motifs with oral transmission and argues in favour of a "performer-centred" understanding of folklore and hagiographical composition.

  8. Folklore as historical and cultural legasy of the lower Volga region in the first third of the XXth century: B.S. Laschilin, A.M. Listopadov

    Directory of Open Access Journals (Sweden)

    Rodionova Olga Igorevna

    2013-11-01

    Full Text Available In the present article the question of the folklore phenomenon in the folk art of the Lower Volga Region in the first third of the 20th century is considered. In the course of research high emphasis was placed on the Cossack subject matter. The role of B.S. Laschilin and A.M. Listopadov in collecting and publishing folk art, the folklore of the Don Cossacks, is revealed. Boris Stepanovitch Laschilin’s work left a great impact in the artistic life of our region. In B.S. Laschilin’s books, that were published in Rostov-on-Don, Saratov, Stalingrad-Volgograd, contained tales, fairy tales, bylinas, legends, songs, ditties, proverbs, sayings, ancient dramas of the first Russian folk theatres, exorcisms. Boris Stepanovitch kept selecting songs and ditties, chastooshkas for Voronezh Folk Choir “Voronezh girls”, which are still in the repertoire of the Pyatnitsky Russian Folk Chorus. Folklorist and musician Alexander Mikhailovich Listopadov, who collected and studied folk songs from his youth up, and recorded them in the Don Region hamlets and Cossack villages, spent more than 50 years of his life on the research of the Don Cossack’s musical culture. Alexander Mikhailovich Listopadov’s heritage made an important contribution to the native musical folklore study. Folklore compositions is a unique source of knowledge of history, way of life, moral and other national concepts, which allows us to reconstitute a linguistic personality of a definite historical epoch.

  9. The Manager's Job: Folklore and Fact

    Science.gov (United States)

    Mintzberg, Henry

    1975-01-01

    Contrasts popular myths about managers' duties with the facts, as indicated by various studies of managers and how they function. The author argues that managers often have distorted views of their role, and that they must first recognize what their job really involves in order to perform it effectively. (JG)

  10. The Manager's Job: Folklore and Fact

    Science.gov (United States)

    Mintzberg, Henry

    1975-01-01

    Contrasts popular myths about managers' duties with the facts, as indicated by various studies of managers and how they function. The author argues that managers often have distorted views of their role, and that they must first recognize what their job really involves in order to perform it effectively. (JG)

  11. Ande-Ande Lumut: Adaptasi Folklor ke Teater Epik Brecht

    Directory of Open Access Journals (Sweden)

    Philipus Nugroho Hari Wibowo

    2013-11-01

    Full Text Available Karya ini mengadaptasi folklor “Ande-Ande Lumut” sebagai ide dasar penciptaannya. Folklor ini dituangkan dalam pementasan teater berjudul “Kemuning”. Folklor “Ande-Ande Lumut” merupakan turunan dari cerita Panji yang menceritakan pengembaraan Raden Panji mencari Putri Candrakirana. Cerita Panji tidak hanya dikenal di Indonesia, tetapi dikenal hingga Asia Tenggara dan Jepang. Perkembangan teori adaptasi begitu pesat, apapun kini bisa dijadikan obyek adaptasi, puisi, novel, drama panggung, lukisan, tarian, dan video games. “Kemuning” ini dikemas dengan konsep pemanggungan teater epik Brecht. Hal ini merupakan suatu upaya mencari bentuk baru (pembacaan dalam cerita “Ande-Ande Lumut”. Teater Epik menolak salah satu unsur utama dari drama Aristotelesyang telah dikembangkan dengan metode Stanislavsky, yaitu harus adanya empati (rasa ikut mengalami dalam sebuah pementasan. Menurut Brecht proses ini telah menyebabkan suatu akibat yang mestinya dihindari, karena mengakibatkan sikap pasif dalam diri penonton. Maka ia membuat teori tentang menghancurkan ilusi, cara interupsi, dan tetap mengontrol emosi. Brecht identik dengan tema-tema sosial dalam karyanya. khususnya tema yang mengangkat nasib orang kecil yang harus menderita karena kebijakan penguasa. Biasanya kisahnya seputar persoalan buruh dan majikan. Pementasan “Kemuning” ini mengangkat kehidupan para pelacur yang masih identik dengan hal-hal negatif. Padahal mereka dibutuhkan dalam masyarakat. Tapi kadang kala mereka menjadi kambing hitam yang harus selalu disalahkan. Secara tersirat pementasan ini bertujuan memperjuangkan kehidupan para pelacur. Penonton diajak melihat sudut pandang yang lain tentang kehidupan pelacur yang selama ini dianggap buruk oleh masyarakat. Menurut Brecht teater yang baik dan yang dituntut dalam jaman moderen adalah teateryang dapat menggugah aktifi tas berfi kir yang kritis pada diri penonton. Maka pentas ini diharapkan mendorong para penikmat seni

  12. Entre indios e inmigrantes: el pensamiento nacionalista y los precursores del folklore en la antropología argentina del cambio del siglo (XIX-XX

    Directory of Open Access Journals (Sweden)

    De Jong, Ingrid

    2005-08-01

    Full Text Available The objective of this article is to analyze the influence of ideas of culturalist nationalism in the configuration of studies of folklore in Argentine anthropology at the turn of the 20th Century. Following the production of leading researchers of folklore during this period allows us to detect the focus of the essentialist conception of the underlying nationality, as well as the the importance given to the indigenous and Spanish contributions to the «creole essence» as conceived by society´s elite sectors as the ethnic foundations of nationality.

    El artículo tiene como objetivo el análisis de la influencia de las ideas del nacionalismo culturalista en la configuración de los estudios de folklore en la antropología argentina durante las décadas que rodean la transición del siglo XIX al XX. El seguimiento de la producción de los principales investigadores en folklore en este período permite detectar la concepción esencialista de la nacionalidad subyacente a sus enfoques, así como las operaciones de jerarquización de los aportes indios y españoles a la «esencia criolla» concebida por los sectores de elite como fundamento étnico de la nacionalidad.

  13. Suicide among animals: clues from folklore that may prevent suicidal behaviour in human beings.

    Science.gov (United States)

    Preti, Antonio

    2005-10-01

    Knowing the most likely reasons for suicide might increase the chances to identify the early signs of suicide. Folkloric tales on suicide among animals are a possible source of such information, since people probably explain animal suicide using the same reasons they would apply to their kin. Modern naturalistic studies ave found little evidence of self-harming conduct among nonhuman species. Nevertheless, mythological accounts often report suicidal behaviour among animals. Claudius Aelian's De natura animalium, a classic in its genre, written in the 2nd century AD, reports 21 cases of suicide among animals. In Aelian's tales, the severing of social ties emerges as an important motive for suicide, together with incest and rage caused by adultery. Paying attention to the mechanisms leading to suicide described in ancient mythology may help us understand unusual and uncommon motives for suicide and the reasons people feel suicidal.

  14. [Witchcraft medicine and folklore in Wushierbingfang ('Prescriptions for fifty-two diseases')].

    Science.gov (United States)

    Jia, Hai-yan

    2010-03-01

    One important characteristic of early stage of TCM is the intermixture of witches medicine and folklore. A few witch prescriptions in Wushierbingfang ('Prescriptions for fifty-two diseases') indicated the residual traces of the mixture of witch and medicine in the medical literatures. The witch prescriptions recorded in Wushierbingfang ('Prescriptions for fifty-two diseases') could be divided into supplication, Yu-step, exorcism, Nuo ritual and peach wood charms etc. Witchcraft developed into folklore and the application of witchcraft sometimes manifested as the form of folklore, which were also reflected in the records of ('Prescriptions for fifty-two diseases').

  15. CULTURAL – FOLKLORE EVENTS – PROMOTERS OF THE CULTURAL TOURISM

    Directory of Open Access Journals (Sweden)

    Carmen Maria IORDACHE

    2008-06-01

    Full Text Available In an era of overcalling output and of removing state borders, it is very important to know and to be able to identify ourselves. Cultural folklore holidays/festivals represent one of the most extensive and complex elements of the immaterial popular culture, acting as an icon because they integrate social, ethic, aesthetic, cultural values specific to a nation. Most tourists have looked for and will continue to look for this icon and to discover it during their holidays and journeys, wishing to know, to explore and to experiment other peoples’ culture and way of living.

  16. A Hearer's Insight into Deaf Sign Language Folklore

    Directory of Open Access Journals (Sweden)

    Liina Paales

    2004-10-01

    Full Text Available The article discusses Estonian deaf lore, which comprises all folklore genres including specific language creation or sign lore characteristic of the deaf. Estonian sign language lore contains material of local as well as of international origin. The latter group includes several humorous tales that have spread mostly through the cultural contacts of the younger generation of the deaf. Hearers’ lore has also exerted its influence on deaf lore. Local deaf lore includes memories of school years and family lore of members of the Estonian deaf community, sign lore based on Estonian sign language, etc. The main features of Estonian deaf lore are (i the specific communicative form, i.e. sign language performance; (ii the minority group of lore transmitters, i.e. the Estonian deaf community; (iii group-centred interpretation of hearing loss.

  17. Folklore medicinal plants of North Andaman Islands, India.

    Science.gov (United States)

    Prasad, P Rama Chandra; Reddy, C Sudhakar; Raza, S H; Dutt, C B S

    2008-09-01

    The rural folk of North Andaman, India use the traditional medicine for their primary health care. Folklore medicinal uses of 72 interesting medicinal plant species along with botanical name, local name, family, habit, part used, disease for which the drug is administrated, mode of administration are presented. These 72 plant species which provide the crude drugs pertain to 67 genera and 43 families of Magnoliophyta from tropical rainforests. These plants used to cure 40 ailments. Most remedies were taken orally, accounting for 76% of medicinal use. Most of the remedies were reported to have been from trees (55.6%) and herb (22.2%) species. The most widely sought after plant parts in the preparation of remedies in the areas are the stem bark (33.8%) and root (23.9%).

  18. Folklore linked to pregnancy and birth in Nigeria.

    Science.gov (United States)

    Okafor, C B

    2000-03-01

    As a part of a safe motherhood project implemented in eastern Nigeria between 1992 and 1996, in-house interviews were conducted with rural women and traditional birth attendants in the seven states of eastern Nigeria. The overall project was designed to contribute toward the reduction of maternal mortality and morbidity through the involvement of community leaders and women's organizations in women's health activities in rural Nigeria. It also focused on identifying and addressing some of the underlying cultural factors in maternal mortality and morbidity in Nigeria. Findings from the interview show that women in rural eastern Nigeria still hold many folklore beliefs about pregnancy and childbirth, and some of these beliefs lead to delay in the referral of complications to hospitals.

  19. Folklore anecdote between memorata and fabulata: Field research of Serbs in Medina (Hungary

    Directory of Open Access Journals (Sweden)

    Ilić Marija

    2007-01-01

    Full Text Available This work is based on folklore material, which was gathered during ethno linguistic field research of Serbian traditional lexicon and spiritual culture in Medina village in Hungary in 2002. Folklore material is composed of the sayings by the informer Sava Sokic and primarily can be defined as a series of comical narrations. If we look upon these narrations as a genre of oral speech and within context of ethno linguistic interview, we can notice a complex structure of this oral genre. That is, this genre functions as a memorat with typical beginnings and met textual comments. On the other hand, it respects almost all genre norms, which are characteristic for folklore anecdote. Therefore, comic narrations of Save Sokic, and that are valid also for folklore anecdote in general, can be classified as borderline genre - between memorata and fabulata.

  20. "Haunting experiences: Ghosts in contemporary folklore," by Diane E. Goldstein et al.

    Directory of Open Access Journals (Sweden)

    Linda Levitt

    2010-03-01

    Full Text Available Diane E. Goldstein, Sylvia Ann Grider, and Jeannie Banks Thomas. Haunting experiences: Ghosts in contemporary folklore. Logan: Utah State University Press, 2007, paperback, $24.95 (272p ISBN 978-0-87421-636-3.

  1. Medieval Sources and Present-Day Folklore Materials on Saints in an Electronic Encyclopedia

    OpenAIRE

    Rangochev, Konstantin; Dimitrova, Margaret; Paneva-Marinova, Desislava

    2012-01-01

    This paper discusses the variety of the digitized content of an electronic encyclopedia on the veneration of saints according to Bulgarian sources. The emphasis is on medieval Slavonic Church manuscripts and on present-day records of Bulgarian folklore narratives and songs. The combination of these sources provokes discussion of the so-called folklore Christianity and adds new dimensions to the understanding of the role of the cults of saints for culture and of the religiosity ...

  2. On the analysis of occurrence background for folklore custom tourism resources in Fujian province%试论福建省民俗旅游资源赋存背景分析

    Institute of Scientific and Technical Information of China (English)

    王泽巍

    2009-01-01

    福建省民俗旅游资源丰富,特色突出,但是相关的研究却较为缺乏.从福建省民俗旅游资源赋存背景、区域背景、开发背景看,福建省具备民俗旅游资源的开发条件.%Fujian Province is abundant in folklore custom tourism resources and has prominent trait, hut there is shortage of study in point. This paper is in allusion to the occurrence background, area background and the development background for folklore custom tourism resources in Fujian Province. It is concluded that the requirements for the development of folklore custom tourism can be satisfied in Fujian.

  3. A randomized controlled trial of Turkish folklore dance on the physical performance, balance, depression and quality of life in older women.

    Science.gov (United States)

    Eyigor, Sibel; Karapolat, Hale; Durmaz, Berrin; Ibisoglu, Ugur; Cakir, Serap

    2009-01-01

    The present study has been carried out to investigate the effects of group-based Turkish folkloric dances on physical performance, balance, depression and quality of life (QoL) in 40 healthy adult elderly females over the age of 65 years. Subjects were randomly allocated into Group 1 (folkloric dance-based exercise) and Group 2 (control). A 8-week dance-based exercise program was performed. Outcome measures included a 20-m walk test, a 6-min walk test, stair climbing and chair rise time, Berg balance scale (BBS), the Medical Outcomes Study (MOS) 36-item short form health survey (SF-36), and geriatric depression scale (GDS) questionnaires. In Group 1 statistically significant improvements were found in most of the physical performance tests, BBS and some SF-36 subscales after the exercise (pdance specific to countries as an exercise program for elderly people may be helpful.

  4. La aldea fantasma: Problemas en el estudio del folklore y la cultura popular contemporáneos

    Directory of Open Access Journals (Sweden)

    Díaz G. Viana, Luis

    2003-06-01

    Full Text Available The author analyzes the problems involved in the study of folklore and popular culture in a contemporary world, transnational and hybrid, aparently different from what the object/subject of study was supposed to be. Nevertheless he argues that the type of urban legends we can gather today through Internet does not differe from the traditional materials, such as leyends, games or mores, since they talk (as they used to about people tryng to make sense out of an always changing and mixed world.

    El autor ofrece un análisis de la problemática relacionada con el estudio del folklore y la cultura popular en el mundo contemporáneo, transnacional e híbrido, aparentemente distinto de lo que se suponía que era el objeto/sujeto de estudio tradicional. Sin embargo, argumenta que el tipo de leyendas urbanas que podemos recopilar hoy a través de internet no es diferente de los materiales tradicionales, tales como leyendas, juegos o costumbres; ya que de lo que hablan éstos, al igual que aquéllos, es de las preocupaciones de las personas por dar sentido a un mundo siempre cambiante y siempre en contacto.

  5. Death and the death of the young people in Turkish culture: Mourning and waling (Agit in Turkish folklore

    Directory of Open Access Journals (Sweden)

    Ali Arslan

    2006-11-01

    Full Text Available Like death, birth is not only a natural reality but also a social and cultural fact. As one of the most important events of the life, a great number of beliefs, customs, tradition, ceremonies, rites, pattern behaviors, transactions have been grouped around death. The forms and contents of these beliefs, customs, tradition, ceremonies, rites, pattern behaviors connected with death may differ in terms of time, society and culture. Turkey has very rich folkloric traditions which have been kept alive for centuries. There is a special place of the folkloric traditions connected with death in Turkish culture. Such beliefs, customs, transactions, ceremonies and pattern behaviors which accumulated around the death are categorized under three groups: pre-death, during death and after death.Wailing is one of these traditions. These can be defined as literary works sung with melodies which express the feelings of fright, anxiety, sorrow and mutiny in cases of natural disasters, deaths, illnesses and helplessness. Singing a wailing is called crying a wailing and the one crying a wailing is called “wailer. The main aim of this study is to make a content analysis of the wailing (ağıtlar (especially the wailing cried on the death of the young people in Anatolian Culture.

  6. Effect of some plants' extracts used in Sudanese folkloric medicines on carrageenan-induced inflammation.

    Science.gov (United States)

    Mohammed, Mona Salih; Khalid, Hassan Subki; Muddathir, Abd Elkhaliq; El-Tahir, Kamal; Khan, Azmat Ali; Algadir, Haidar Abd; Osman, Wadah Jamal Ahmed; Siddiqui, Nasir Ali

    2015-01-01

    Investigations for anti-inflammatory potential and categorization of Sudanese medicinal plants according to their potency. Anti-inflammatory effect of plants' extracts of 17 genera were studied using the carrageenan induced inflammation in rats' paws. The plant extracts were obtained using methanol and dichloromethane as solvent and administered intra peritoneally at the concentration of 2g/kg body weight. The results obtained in this experiment strongly support and validate the traditional uses of these Sudanese medicinal plants to treat various inflammatory diseases. 63.9% of plants extracts showed marked inhibition of inflammation induced by carrageenan (78.3% out of this percentage represented by methanolic extract), 27.8% showed no activity and 8.3% enhanced the carrageenan induced inflammation. The anti-inflammatory effect of many of these plants has not been reported previously, yet they have been extensively used in Sudanese folkloric medicine. The result of this study justify the traditional medicinal use of the evaluated plants species in treating inflammatory disorders and helped in categorizing the investigated plants into most useful, moderately useful and least useful category for inflammatory diseases. Out of the 17 investigated plant species 05 belongs to most useful and 06 belongs to moderately useful category. However, toxicity studies are required to prove the safety of these plant materials.

  7. Sobre el folklore en la actualidad y la pluralidad en la lectura

    Directory of Open Access Journals (Sweden)

    Luis Díaz G. Viana

    2005-01-01

    Full Text Available Este trabajo presenta un análisis de la problemática relacionada con el estudio del folklore y la cultura popular en el mundo contemporáneo, transnacional e híbrido, aparentemente distinto de lo que se suponía era el objeto/sujeto de estudio tradicional. El autor argumenta que los diferentes modos de transmisión de la literatura, hoy, están determinando una pluralidad de la lectura que obliga, desde las aportaciones del estudio del folklore contemporáneo -como el de las llamadas "leyendas urbanas"-, a reconsiderar el propio concepto de lectura.

  8. New approaches for development, analyzing and security of multimedia archive of folklore objects

    Directory of Open Access Journals (Sweden)

    Galina Bogdanova

    2008-07-01

    Full Text Available We present new approaches used in development of the demo version of a WEB based client/server system that contains an archival fund with folklore materials of the Folklore Institute at Bulgarian Academy of Sciences (BAS. Some new methods for image and text securing to embed watermarks in system data are presented. A digital watermark is a visible or perfectly invisible, identification code that is permanently embedded in the data and remains present within the data after any decryption process. We have also developed improved tools and algorithms for analyzing of the database too.

  9. Information Systems for the Museum of Japanese History, Archaeology and Folklore

    Science.gov (United States)

    Terui, Takehiko

    General idea and outline of museums of Japanese history, archaeology and folklore are introduced, and the relationship between exhibits and information in them is described. Then the information systems of these museums are explained in some detail. As an example, the author describes the information systems for the museum of Japanese history, archaeology and folklore by comparing the computer system with the traditional manual system. Japanese language processing and image handling derived from the systems are also described. Significance and problems of nationwide information network linking these museums each other, and problems of staffs in the information sections are mentioned.

  10. [An outline medical history of Taiwan (I): the period of folklore medicine and witch doctor].

    Science.gov (United States)

    Li, C

    1997-01-01

    The paper makes a correlated analysis on the origin of health folklore between Chinese in mainland and Taiwan island. After quoting literatures written by authors living in the Qing dynasty in Taiwan, this paper analyses health condition among aboriginals of Taiwan during the witchcraft age. Along with the increasing immigration from China mainland to Taiwan island, health of folklore and gods from China mainland were introduced into Taiwan, hence the period of witch doctor in Taiwan, featuring the correlation of both. Though modern medicine in Taiwan is so advanced, yet there are still witch doctors elsewhere.

  11. Sleep Paralysis in Brazilian Folklore and Other Cultures: A Brief Review

    Science.gov (United States)

    de Sá, José F. R.; Mota-Rolim, Sérgio A.

    2016-01-01

    Sleep paralysis (SP) is a dissociative state that occurs mainly during awakening. SP is characterized by altered motor, perceptual, emotional and cognitive functions, such as inability to perform voluntary movements, visual hallucinations, feelings of chest pressure, delusions about a frightening presence and, in some cases, fear of impending death. Most people experience SP rarely, but typically when sleeping in supine position; however, SP is considered a disease (parasomnia) when recurrent and/or associated to emotional burden. Interestingly, throughout human history, different peoples interpreted SP under a supernatural view. For example, Canadian Eskimos attribute SP to spells of shamans, who hinder the ability to move, and provoke hallucinations of a shapeless presence. In the Japanese tradition, SP is due to a vengeful spirit who suffocates his enemies while sleeping. In Nigerian culture, a female demon attacks during dreaming and provokes paralysis. A modern manifestation of SP is the report of “alien abductions”, experienced as inability to move during awakening associated with visual hallucinations of aliens. In all, SP is a significant example of how a specific biological phenomenon can be interpreted and shaped by different cultural contexts. In order to further explore the ethnopsychology of SP, in this review we present the “Pisadeira”, a character of Brazilian folklore originated in the country’s Southeast, but also found in other regions with variant names. Pisadeira is described as a crone with long fingernails who lurks on roofs at night and tramples on the chest of those who sleep on a full stomach with the belly up. This legend is mentioned in many anthropological accounts; however, we found no comprehensive reference on the Pisadeira from the perspective of sleep science. Here, we aim to fill this gap. We first review the neuropsychological aspects of SP, and then present the folk tale of the Pisadeira. Finally, we summarize the many

  12. Sleep Paralysis in Brazilian Folklore and Other Cultures: A Brief Review.

    Science.gov (United States)

    de Sá, José F R; Mota-Rolim, Sérgio A

    2016-01-01

    Sleep paralysis (SP) is a dissociative state that occurs mainly during awakening. SP is characterized by altered motor, perceptual, emotional and cognitive functions, such as inability to perform voluntary movements, visual hallucinations, feelings of chest pressure, delusions about a frightening presence and, in some cases, fear of impending death. Most people experience SP rarely, but typically when sleeping in supine position; however, SP is considered a disease (parasomnia) when recurrent and/or associated to emotional burden. Interestingly, throughout human history, different peoples interpreted SP under a supernatural view. For example, Canadian Eskimos attribute SP to spells of shamans, who hinder the ability to move, and provoke hallucinations of a shapeless presence. In the Japanese tradition, SP is due to a vengeful spirit who suffocates his enemies while sleeping. In Nigerian culture, a female demon attacks during dreaming and provokes paralysis. A modern manifestation of SP is the report of "alien abductions", experienced as inability to move during awakening associated with visual hallucinations of aliens. In all, SP is a significant example of how a specific biological phenomenon can be interpreted and shaped by different cultural contexts. In order to further explore the ethnopsychology of SP, in this review we present the "Pisadeira", a character of Brazilian folklore originated in the country's Southeast, but also found in other regions with variant names. Pisadeira is described as a crone with long fingernails who lurks on roofs at night and tramples on the chest of those who sleep on a full stomach with the belly up. This legend is mentioned in many anthropological accounts; however, we found no comprehensive reference on the Pisadeira from the perspective of sleep science. Here, we aim to fill this gap. We first review the neuropsychological aspects of SP, and then present the folk tale of the Pisadeira. Finally, we summarize the many historical

  13. Sleep paralysis in Brazilian folklore and other cultures: a brief review

    Directory of Open Access Journals (Sweden)

    José Felipe Rodriguez de Sá

    2016-09-01

    Full Text Available Sleep paralysis (SP is a dissociative state that occurs mainly during awakening. SP is characterized by altered motor, perceptual, emotional and cognitive functions, such as inability to perform voluntary movements, visual hallucinations, feelings of chest pressure, delusions about a frightening presence and, in some cases, fear of impending death. Most people experience SP rarely, but typically when sleeping in supine position; however, SP is considered a disease (parasomnia when recurrent and/or associated to emotional burden. Interestingly, throughout human history, different peoples interpreted SP under a supernatural view. For example, Canadian Eskimos attribute SP to spells of shamans, who hinder the ability to move, and provoke hallucinations of a shapeless presence. In the Japanese tradition, SP is due to a vengeful spirit who suffocates his enemies while sleeping. In Nigerian culture, a female demon attacks during dreaming and provokes paralysis. A modern manifestation of SP is the report of alien abductions, experienced as inability to move during awakening associated with visual hallucinations of aliens. Furthermore, SP is a significant example of how a specific biological phenomenon can be interpreted and shaped by different cultural contexts. In order to further explore the ethnopsychology of SP, the Pisadeira, a character of Brazilian folklore originated in the country’s Southeast, but also found in other regions with variant names, has been reviewed. Pisadeira is described as a crone with long fingernails who lurks on roofs at night and tramples on the chest of those who sleep on a full stomach with the belly up. This legend is mentioned in many anthropological accounts; however, we found no comprehensive reference on the Pisadeira from the perspective of sleep science. Here we aim to fill this gap. We first review the neuropsychological aspects of SP, and then present the folk tale of the Pisadeira. Finally, we summarize the

  14. POLÍTICAS DE LA REPRESENTACIÓN DEL FOLKLORE EN LOS MUSEOS FOLKLÓRICOS/Folklore representation policies in folk museums

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    Ana María Dupey

    2012-11-01

    Full Text Available  Este trabajo trata sobre la invención y la reinvención de los museos de folklore. Se analizan cuáles han sido los propósitos políticos y las razones que se han esgrimido para su establecimiento y quiénes han sido los agentes de estas invenciones / reinvenciones. Si han sido producto de instituciones estatales o surgen de movimientos de elites o grupos minoritarios pertenecientes a la sociedad civil. Simultáneamente, se dilucida cómo las representaciones del folklore son semantizadas para la representación de identidades de colectivos locales, regionales, nacionales y transnacionales. Se analizan a las actuales re-orientaciones de dichas instituciones operadas a partir de los procesos de descolonización (exteriores e interiores con sus consecuencias económicas, políticas, sociales y cognitivas, b las críticas a los análisis coloniales y clasistas desarrollados en el pasado por la Etnología y el Folklore. Disciplinas que abonaron los respectivos discursos museográficos y c la revisión de la definición de la institución museo. AbstractThis work deals with the invention and the reinvention about folk museums. It analyzes what were the political purposes and the reasons that have been put forward for the establishment of folk museums and who were the agents of these inventions/reinventions. If they have been the product of state institutions or movements which arise from elite or minority groups that belongs to the civil society. Simultaneously, it is explained how the folklore representations are semanticized in the representation of the local, regional, national and transnational collective identities. It analyzes a the current guidelines for museums that are based upon the decolonization processes (internal and external and their economic, political, social and cognitive consequences, b the critiques of colonialism and classists analyses developed in the past by Ethnologhy and Folklore. Disciplines that had influenced

  15. Levitation, Jokes, and Spin the Bottle; Contemporary Folklore in the Classroom--A Teacher's View.

    Science.gov (United States)

    Juska, Jane

    1985-01-01

    Describes the effect the teaching of a unit on contemporary folklore had on a high school English teacher and her students. Suggests that within each student is a wealth of untapped information that can be used as a basis from which to explore different kinds of writing and which can lead to new ways of looking at literature. (RBW)

  16. The Megalithic Monuments of Ireland and Their Folklore: A Photodocumentary Project.

    Science.gov (United States)

    Goldbaum, Howard

    A photojournalism project is described in this paper that integrated the disciplines of photography, archaeology, and ethnology in an examination of prehistoric megalithic monuments in Ireland and their folklore. Following an introduction tracing the history of the monuments and pointing to the maintenance in Ireland of a body of oral tradition…

  17. Folklore as an Instrument of Education among the Chewa People of Zambia

    Science.gov (United States)

    Banda, Dennis; Morgan, W. John

    2013-01-01

    This article considers the folklore of the Chewa people of Zambia as an instrument of education. It suggests that there is only a fine distinction between Chewa culture ["mwambo wa a Chewa"] and Chewa education ["maphunziro ya Uchewa"]. The former comprises tribal "truths" to be imposed on the minds of the younger…

  18. The Use of Folklore and Other Materials in the Motivation or Presentation of a Lesson.

    Science.gov (United States)

    Adorno, Elvira

    1951-01-01

    Suggestions on how to improve apperception, motivation, and the presentation of materials in the teaching of Italian tenses, vocabulary, and famous names focus on the use of literary devices largely derived from folklore. For teaching tenses, the author illustrates the use of riddles, "passerotti", "filastrocche", songs, tongue-twisters, rebuses,…

  19. MYTHS AND FOLKLORE IN THE PICTURE OF THE WORLD IN THE EPOCH OF AVANT-GARDE: STATEMENT OF THE PROBLEM

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    Marianna Andreevna GALIEVA

    2015-01-01

    Full Text Available The article considers the complex relationship of myth, folklore and literature in the context of consciousness and culture of avant-garde epoch. Much attention is paid to the theories of musicologists of those years that are compati-ble with the theory of synthesis of arts and the avant-garde painting. The author raises the question of myths and folk-lore penetration into the poetics of early XX century, high-lights the connections of the aesthetic views of Esenin, Tsvetaeva, Malevich and folklore, its metaphysics and pre-genre formations.Comparative analysis of the principle of "synthesis of arts" and the interaction of myths and rituals within the folklore allows to look differently at the problem of folklorism in literature. The theory of Uspenskiy on the "fourth" dimension is in harmony with the poetic views of Tsvetaeva and such folklore phenomenon as obmiranie. In this regard, we can speak of the dialectical nature of the forms of myth and folklore in the poetics of the Avant-garde.

  20. TRADITIONAL CRAFTS AND FOLKLORE AS A MEANS OF ECONOMIC DEVELOPMENT IN THE LAND OF CĂLATA

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    Roxana-Maria BUŞ

    2017-04-01

    Full Text Available The main purpose of this paper is to demonstrate how territorial identity, expressed through immaterial and material heritage, especially folklore and traditional crafts, can be a means of economic sustainable development in rural areas. As a case study, we choose the Land of Călata (Hu. Kalotaszeg, a region from North-Western Transylvania, Romania, focusing on two of its best-known villages: Izvoru Crișului (Hu. Körösfő and Sâncraiu (Hu. Kalotaszentkirály. Izvoru Crișului is appreciated for carpentry and handicrafts products, whilst Sâncraiu is well-known for its Hungarian folk music and dance festival. In order to illustrate how these activities can lead to economic development, we interviewed a craftsman family from Izvoru Crișului and a dance instructor, cofounder of the International folk music and dance camp that is held annually in Sâncraiu. We also analysed several handicrafts stalls from Izvoru Crișului to see exactly what kind of products were being sold in there. The results show that even though traditional crafts could generate an income for the local people, most of the products sold in Izvoru Crișului are not authentic, but brought there from other regions of Romania or abroad. On the other hand, the international folk music and dance camp from Sâncraiu is the best example of how a one-week event can help local economy by generating income for various stakeholders involved in the organisation and realisation of the event, and be the igniter of a larger agro-touristic activity. In the end, we concluded with several remarks concerning the need for raising awareness among the locals how to benefit from their cultural heritage and traditional occupations and we acknowledged the potential of traditional crafts and folklore as a means of diversifying income possibilities in rural areas.

  1. 'DELİ DUMRUL' BY SUAT TAŞER, WITHIN THE SCOPE OF FOLKLORE - IDEOLOGY – LITERATURE FOLKLOR-İDEOLOJİ-EDEBİYAT ÜÇGENİNDE SUAT TAŞER’İN DELİ DUMRUL’U

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    Nezir TEMUR

    2011-12-01

    Full Text Available It's a sociologically inevitable phenomenon that the social andpolitical changes occuring in societies evoke their reflections in culturalproductions prominently. Since the 19th Century, when nationalidentities began to take form along with romantic nationalism, folkloricartifacts which are significant conveyers of cultural recollections such ashistory and language, have confronted us as a field emphasized byideological and literary movements, notably Social Sciences. In the worldof 20th Century, when ideologies began to take form in political sense,folkloric artifacts undertook significant functions in culture policiesenvisaged by dominant ideologies for the new forms of Societies whichthey tried to build. The style of the folkloric artifacts, cultural codes theyconveyed, and their functionality have been active components in thisapproach. In this sense, the intensifying process , which begins to headtowards works of folk narrations, folk poetry, and folk literature inTurkish Literature after 1930s, gradually increases after the 1940s andthis tendency becomes one of the significant sources fostering literature.At this point, substantial works of Turkish folklore such as epics,folktales, tales, legends have been released to the public within newperspectives and techniques.It can be seen that new pursuits in expressions and utteranceshave been embarked, like in 'Deli Dumrul - Ölüm ve Aşk' (Epic and Playby Dede Korkut , which can be considered as the rewriting of one of hisepics with a new understanding. This study aims to make a comparisonbetween 'Deli Dumrul - Ölüm ve Aşk' (Epic - Play by Suat Taşer and theoriginal text of the Epic of Deli Dumrul and to examine how folkloricartifacts and cultural values tried to be transmitted into those artifactshave been modernized, adapted contemporarily and released ;the partswhere the writer digressed from the souce text during the adaptation; towhat extent the traditional context has been changed

  2. Language and folklore in Hamid Mosaddeq’s poem

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    IRAN

    2016-02-01

    Full Text Available Abstract"Standard language", "sub-standard language" and "meta-standard language" are the language types of many varieties. Use of sub- standard language in making poetry, known as “stylistic deviation”, is one of the ways of highlighting poetic language. More attention to this technique of language in the contemporary period was paid by Nima. Nima believed that all words have the potentiality to enter the realm of poetry. No word is essentially poetic or non-poetic, but the way of using words by the poet determines its poetic value.Hamid Mossadegh by the use of sub-standard language elements, in addition to increasing the richness of his poems, made them closer to the mind, language and life of people. Folkloric elements of Mosaddeq’s poems were divided into seven groups: 1 Slang words, 2 common and spoken vocabulary 3 Irony and Proverbs 4 Tlfzhay popular 5 allusion to folk tales 6 folk beliefs and customs 7 local vocabulary.Slang words in poems Mosaddeq in the "verb" and "noun" have been examined. Many folk verbs such as "Shangidan" and "gap zadan (to chat" in Mosaddeq’s poems have been applied. Some of folk verbs in his poems are in such a way that at first, one could not understand the point. These verbs have several meanings that one or more specific meanings are slang, like verb "gereftan (to get" that means "to grow the root of the plant" has slang sense.There is an abundance application of folk nouns in Mosaddeq’s poem. Some of the nouns used in Mosaddeq’s poem, considering their figurative meanings, can be investigated in the folk nouns group, like "foot" in the figurative sense of "will"."Colloquial and current words are of the most frequent elements of folk words in the poetry of Mosaddeq. These words in the category of "nouns" and "verbs" could be analyzed. Lexical verbs such as "to hip" and "Perfume of Moskow" are of this kind. "Irony and Proverbs" are the other folk elements of the poetry of Mosaddeq. "till eye can see

  3. Vilniaus krašto folkloras kaip tautinės tapatybės dėmuo | Vilnius region folklore as an inherent part of the national identity

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    Saulė Matulevičienė

    2006-01-01

    Full Text Available The article focuses on the movement at the end of the 19th and the beginning of the 20th centuries that manifested itself in the collecting, researching and publishing of Vilnius Region folklore. Saulė Matulevičienė speculates as to what degree this activity can be associated with conscious efforts to define and consolidate the limits of the historical and cultural indentity of the population of this Region. She also questions what, if any, ideological motivations this activity might have had.The discussion of the current affairs of the Vilnius Region is done in the background of more generalised reflections such as what role is attributed to the folklore when the symbols of the identity of a certain community are consciously brought forward or even created anew; which folklore text and how they gain symbolical significance and thus help to bring a community together. At the end of 19th century, linguistically diverse folklore texts of the Vilnius Region were written down and published and neither the ethnic background of their presenters nor the language of the actual texts were considered as important and distinguishing aspects of identity of the population of the Region.As of the establishment of the Lithuanian Society of Science at the beginning of the 20th century, the Lithuanian character of the Region was being promoted as a reaction to a rapid decline and intense extermination of the ethnic Lithuanian population. Thus, collecting and researching of the folklore develops a defensive character. Manuscript collections of the time reflect a diverse living tradition covering different stylistic modes attributed to different points in time. The selection of texts published in the folklore collections of the time becomes not only the symbolic consolidation of the Lithuanian identity of the inhabitants of the Vilnius Region, but also contributes to the construction of this identity.The political and historical circumstances of the 20th

  4. Protecting expressions of Folklore within the Right to Culture in Africa

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    ES Nwauche

    2010-12-01

    Full Text Available This paper explores the protection of expressions of folklore within the right to culture in Africa by considering three issues, which are the increased understanding of the right to culture in national constitutions and the recognition that customary law is a manifestation of the right to culture; an expanded understanding of the substantive content of the article 15(1 of the International Covenant for Economic, Social and Cultural Rights as part of the right to culture; and the recognition of the rights of indigenous peoples marked significantly by the 2007 United Nations Declaration of the Rights of Indigenous People. The paper demonstrates how a human rights regime may assist in overcoming some of the deficiencies in the national protection of expressions of folklore in Africa.

  5. Improvisation and Variation: Post-Communist Bulgaria Challenges National Folklore Tradition

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    Elka Agoston-Nikolova

    2008-08-01

    Full Text Available The paper discusses the tension in post-totalitarian Bulgaria betweenthe national folklore tradition of Communist times with government sanctioned state ensembles and festivals and age-old Balkan multiculturalism now represented in a westernized free-market consumer society, where spontaneity and improvisation bridge the urban and the rural, the local and the global. Folk pop, folk jazz or other mixed genres reverberate with humor , parody and, above all, freedom and love of improvisation.

  6. Remediating Internet trivia : Net Art’s lessons in Web folklore

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    Camille PALOQUE-BERGES

    2010-01-01

    Full Text Available The Internet still debates over the value of its contents. Redefining traditional media within popular culture, it shatters the proper definition of mediation – based on so-called « legitimate” intermediaries. Web folklore is considered as perhaps one of the lowest forms of Internet culture ; yet, it is everywhere. Observed and remediated by Net Art as trivial culture, it nonetheless shows a crucial potential in interrogating new mediations on the Internet.

  7. Substituting internet for a traditional fieldwork: Collecting folklore data on Internet

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    Trifunović Vesna

    2010-01-01

    Full Text Available Internet as a substitute for traditional fieldwork is being used increasingly, hence there is a need to asses the notion of 'doing fieldwork'. One of the funda­mental questions related to the usage of Internet to collect data arises as a doubt whether this kind of data collection is an adequate means to its end: are the data collected this way sufficient or even appropriate for an academic analysis and scientific theories? In an attempt to at least partially answer this question, this paper discusses ways in which Internet could be used and seen as a fieldwork providing valid data. To illustrate this, the paper presents, as an example, an analysis of a certain folklore material gathered via Internet. The aim is to show which kind of data could be collected this way, and how the analysis performed demonstrate such data are nevertheless a valid source containing quality information on a given subject, in this case, folklore. The discussion is limited to anthropology of folklore in order to demonstrate the possibility of data collection which excludes more traditional fieldwork methods.

  8. Humour Theories and the Archetype of the Trickster in Folklore: An Analytical Psychology Point of View

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    Ana Stefanova

    2012-04-01

    Full Text Available Humour theories describe different parts of humour as a phenomenon, obtained on the personal and community level, so difficult to be explained. The analytical psychology of Carl Gustav Jung may help in the explanation of why the search for the “Holy Grail of Humour” is as if trying to catch a shadow. The archetype of the trickster in folklore may help us describe some common and different parts of the universal phenomenon of humour and the specific ethno-psychological traits.The paper presents an overview of basic humour theories, supported by analytical psychology comments, the archetype of the trickster in Bulgarian and Russian folklore, in the folklore of Native American tribes, Kalevala and Edda (Snorri Sturluson with an attempt to explain how the traits of this “hero” provide a list of the components making something humorous for different people and what are the common traits that can be described as universal.This overview could help trace the humour phenomenon from the universal, through the community, to the individual level trying to find how important this is in searching for its characteristics.

  9. Differences in motor abilities between dancers in professional and amateur folklore ansambles

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    Kocić Jadranka

    2014-01-01

    Full Text Available Differences in motor abilities between dancers in Serbinan professional folklore ansamble for dance and sing 'Kolo' in Belgrade and amateur folklore ansambles from coulture-arts society 'Vila' and 'Sonja Marinković' from Novi Sad had been tested on sample of 47 members. Motor area was examined by Provincial Governement Institute tests for Sport in Novi sad, and it was received 9 variables: single movement speed, explosivity below extremities (legs, endurance in jumping, absolutely strength backs' flexor muscule, relatively strength backs' flexor muscule, absolutely strength backs' extensor muscule, relatively strength backs' extensor muscule, absolutely strength backs' flexor muscule, relatively strength backs' flexor muscule. Relatively values obtained from absolutely values results using mathemathics. To determine differences between folklore dancers in whole variable system, it was used multivariante analysis variance (MANOVA. It was determined differences between sexes in motor abilities. Data was obtained by statistic packet SPSS 10.0. The aim was to find significant differences in nine mentioned variables between professional and amateur dancers and between sexes. Received results showed that there was not significant differences between professional and amateur dancers. Between sexes it was significant differences in man benefit, except one variable single movement speed. The conclusion is that for better, statisticaly significant results, professional dancers should enlarge contents and expend training intensity.

  10. From folklore to scientific evidence: breast-feeding and wet-nursing in islam and the case of non-puerperal lactation.

    Science.gov (United States)

    Moran, Lia; Gilad, Jacob

    2007-12-01

    Breast-feeding practice has an important medical and socio-cultural role. It has many anthropological aspects concerning the "power structures" that find their expression in breast-feeding and the practices that formed around it, both socially, scientifically, and legally-speaking. Breast-feeding has been given much attention by religions and taboos, folklore, and misconception abound around it making it a topic of genuine curiosity. This paper aims at expanding the spectrum of folklore associated with breast-feeding. The paper deals with historical, religious, and folkloristic aspects of breast-feeding, especially wet-nursing, in Islam and focuses on an intriguing Islamic tale on breast-feeding - lactation by non-pregnant women (or non-puerperal lactation). Apparently, accounts of non-puerperal lactation are not restricted to Islam but have been documented in various societies and religions throughout centuries. Two medical situations - hyperprolactinemia and induced lactation, appear as possible explanations for this phenomenon. This serves as an excellent example for the value of utilizing contemporary scientific knowledge in order to elucidate the origin, anthropology and evolvement of ancient myth and superstition.

  11. Modern Values of the Folklore:Modern Literature of China and Morphology of Its Folk Culture%"民间"的现代价值--中国现代文学与民间文化形态

    Institute of Scientific and Technical Information of China (English)

    王光东

    2004-01-01

    @@ When putting the topics of formation,development and tradition of China's modem literature into discussion, we cannot, of course, overlook their relations to foreign lit erature and world culture on the whole and,similarly, we cannot brash aside their association with the morphology of the folk culture. This article is to explore the relationship between China's modern literature and folklore within the reach of the folk culture. This is because if we contain our discussion in the living conditions of Chinese literati in the 20th century, the rustic origin of the folklore itself is native to their homeland and therefore, it has an exceedingly deep internal linkage with their mental composition and literary pursuits. In other words, we can say that the discovery of their rustic birthmark by modern intellectuals makes up an aspect of China's new literature.This is another tradition closely related to the enlightenment literature. If we come to discuss the problem of folklore within the limits of Chinese literature and modem culture,the most important for us is to ponder: in what sense does the morphology of the folk culture take part in the construction of modem culture and literature in China? Modem Chinese culture is a comucopian trove and its characteristics of unbridled criticism and fighting spirit of realism are its superb cultural qualities. To understand the morphological value of a folk culture, it is inevitable for us to touch on this cultural personality.

  12. CHARACTER OF ZHALMAUYZ IN THE FOLKLORE OF TURKIC PEOPLES

    OpenAIRE

    Auyesbayeva, Pakizat; Akhmetbekova, Akbota; Rakysh, Zhumashay

    2017-01-01

    Among the Turkic peoples Zhalmauyz Kempіr character, compared to other demonological characters, is widely used in genres. The transformation of this character from seven-headed villain - Zhalmauyz kempіr to mystan kempіr was seen. This very transformation is associated with the transition of society from matriarchy to patriarchy. Zhalmauyz is a syncretic person. She acts in the character of an evil old woman. This character is the main image of the evil inclination in the Kazakh mythology. S...

  13. Historia y folklore vivos: la influencia de los medios en la cultura participativa

    OpenAIRE

    Rico Barraza, Clara

    2016-01-01

    [ES] Este trabajo versa sobre la relación existente entre la exposición a productos audiovisuales de carácter histórico o folklórico y su ingluencia en los hábitos y costumbres de su audiencia [EN] This paper is about the existent relationship between being exposed to audiovisual contents of historical and folklorical kind and their influence on the habits of its audience Trabajo de fin de Grado. Grado en Sociología. Curso académico 2015-2016

  14. Tell Tale Increasing Skill: Increasing Indonesian Student Reading Comprehension through Indonesian Folklore

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    Endang Ernawati

    2016-10-01

    library research was applied by selecting the story suitable for primary school students, translating materials, simplifying the reading, and making reading exercise to develop students reading comprehension skills. Reading materials and exercises were focused to the fifth year primary students who have been learning English for more than three years. It can be concluded that the interesting reading materials can be compiled from the original Indonesian folklore entitled The Old Sly Stork to support students achievement in finding the storys values, and students skills in writing based on the reading materials, value, and their daily life experiences.

  15. Sobre el folklore en la actualidad y la pluralidad en la lectura

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    Díaz G. Viana, L.

    2005-11-01

    Full Text Available Este trabajo presenta un análisis de laproblemática relacionada con el estudio del folklorey la cultura popular en el mundo contemporáneo,transnacional e híbrido, aparentemente distinto de loque se suponía era el objeto/sujeto de estudio tradicional.El autor argumenta que los diferentes modosde transmisión de la literatura, hoy, están determinandouna pluralidad de la lectura que obliga, desdelas aportaciones del estudio del folklore contemporáneo–como el de las llamadas “leyendas urbanas”–,a reconsiderar el propio concepto de lectura.

  16. Cognitive “Boy stories”: urban folklore and urban topographies

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    Bojan Žikić

    2016-02-01

    Full Text Available The culturally cognitive perception of Belgrade’s topographies is considered through its deployment, symbolic use and narrative foundation. As the explanatory material-one football-media incident, the use of certain areas of the city in a spectacleceremonial manner, knowledge and lore of certain elements of the Belgrade topographies and the organization of «the football Belgrade»-were considered. The attitude is taken that the topography of a city is a multifaceted cultural constituent, whose structure of particular meaning, as a part of cultural communication, is determined by the very fact it is an urban space. Physical aspects of spatial-ness are reduced to relationism, i.e. it has a meaning for the cultural communication only when the elements of urban topographies are brought into correlation. Other characteristics of physical spatial-ness are irrelevant for such communication. Meaning relations in which elements of urban topographies exist are formed on the very fact of them being urban, that is, the afore mentioned denotation that is ascribed to space, stems from those cultural features and artifacts that are associated in a given milieu with certain concrete elements of urban topographies.

  17. Information System on Russian Folklore Songs of Karelia as a Tool of Formalization and Classification of Songs

    Science.gov (United States)

    Varfolomeyev, Aleksey G.; Moskin, Nikolay D.; Kravtsov, Ignat V.

    The authors elaborate the project of information system dedicated to folklore songs of North Russia. For increase of research potential of information system it is necessary to decide a task of formalization of the song content. In our opinion the most adequate mathematical structure describing a folklore song is the set of oriented graphs connected among themselves. In each graph the vertexes are the objects of the text, the edges are relations between objects. Our information system will contain both complete texts of songs and their formal representations by graphs that will allow to carry out comparisons of songs, to find invariants, to decide tasks of classification.

  18. La serie de fotografías de “l’Arxiu d’etnografia i Folklore de Catalunya”

    OpenAIRE

    Losada Fernández, Carmen

    2015-01-01

    El Arxiu d’Etnografia i Folklore de Catalunya (AEFC), como ya se comentaba en el núm. 23 de Enredadera, se creó en noviembre de 1915 por el Dr. Tomàs Carreras i Artau. Una parte muy importante de este archivo es su sección gráfica, compuesta por fotografías, postales, recortes de prensa, literatura de cordel, gozos, etc. Imagen digitalizada en SIMURG del Arxiu d’Etnografia i Folklore de Catalunya: Fiesta profana Hay que señalar que el AEFC fue pionero en el empleo de la fotografía como ...

  19. Bird Names and Folklore from the Emberá (Chocó in Darién, Panamá

    Directory of Open Access Journals (Sweden)

    Stephanie C. Kane

    2015-06-01

    Full Text Available This paper presents data on names and folklore of birds collected among native speakers of Emberá in the moist tropical forests of Darién, Panamá.  The naming data was collected by systematic elicitation of names from pictorial representations of birds.  It is organized here to facilitate analysis of various aspects of folk taxonomy in relation to scientific taxonomy.  Folklore about birds collected in natural contexts is also included to indicate the role of birds and their names in symbolic processes that exceed the limits of literal reference.

  20. African American Physical Education Folklore Surrounding School Transition

    Science.gov (United States)

    Woodruff, Elizabeth A.; Curtner-Smith, Matthew D.

    2015-01-01

    Transferring from elementary to secondary school can be difficult for many children, and students making this transition often suffer from anxiety and stress. One source of stress can be found in the scary stories transitioning pupils hear about their new schools, particularly those about physical education and sport. The purpose of this study was…

  1. The search for novel anticancer agents: a differentiation-based assay and analysis of a folklore product.

    Science.gov (United States)

    Dinnen, R D; Ebisuzaki, K

    1997-01-01

    One alternative approach to the current use of cytotoxic anticancer drugs involves the use of differentiation-inducing agents. However, a wider application of this strategy would require the development of assays to search for new differentiation-inducing agents. In this report we describe an in vitro assay using the murine erythroleukemia (clone 3-1) cells. Tests for the efficacy of this assay for the analysis of antineoplastic activity in natural products led to studies on pau d'arco, a South American folklore product used in the treatment of cancer. Purification of the activity in aqueous extracts by solvent partition and thin layer chromatography (TLC) indicated the presence of two activities, one of which was identified as lapachol. The activity in the pau d'arco extracts and of lapachol was inhibited by vitamin K1. As a vitamin K antagonist, lapachol might target such vitamin K-dependent reactions as the activation of a ligand for the Axl receptor tyrosine kinase.

  2. Folklore and traditional ecological knowledge of geckos in Southern Portugal: implications for conservation and science

    Directory of Open Access Journals (Sweden)

    Vila-Viçosa Carlos M

    2011-09-01

    Full Text Available Abstract Traditional Ecological Knowledge (TEK and folklore are repositories of large amounts of information about the natural world. Ideas, perceptions and empirical data held by human communities regarding local species are important sources which enable new scientific discoveries to be made, as well as offering the potential to solve a number of conservation problems. We documented the gecko-related folklore and TEK of the people of southern Portugal, with the particular aim of understanding the main ideas relating to gecko biology and ecology. Our results suggest that local knowledge of gecko ecology and biology is both accurate and relevant. As a result of information provided by local inhabitants, knowledge of the current geographic distribution of Hemidactylus turcicus was expanded, with its presence reported in nine new locations. It was also discovered that locals still have some misconceptions of geckos as poisonous and carriers of dermatological diseases. The presence of these ideas has led the population to a fear of and aversion to geckos, resulting in direct persecution being one of the major conservation problems facing these animals. It is essential, from both a scientific and conservationist perspective, to understand the knowledge and perceptions that people have towards the animals, since, only then, may hitherto unrecognized pertinent information and conservation problems be detected and resolved.

  3. Die ontwikkeling van 'n rekenaarondersteunde taalonderrigprogram op grond van Afrikaanse folklore

    Directory of Open Access Journals (Sweden)

    Estelle Kruger

    2011-08-01

    Full Text Available Hierdie artikel doen verslag oor die ontwikkeling en gebruik van 'n rekenaarondersteunde taalonderrigprogram vir addisioneletaalonderrig. In navolging van verskeie teoretici voer die navorser aan dat die pikturale humor soos vervat in T.O. Honiball se strokiesprente as toegepaste Afrikaanse folklore beskou kan word - 'n soort kernliteratuur wat op mondelinge volksverhale berus. Die artikel bespreek die fases en faktore wat die ontwikkeling van die program vir gebruik in 'n virtuele taalklaskamer beïnvloed het, asook die uitkomste en inhoud daarvan. Uiteindelik is die program in 'n kwalitatiewe navorsingsprogram gebruik waar onderwysstudente dit aan die hand van addisioneletaalonderrigbeginsels moes beoordeel. This article reports on the development and use of a computer assisted language teaching programme for additional language teaching. With the necessary theoretical support, the researcher argues that the pictorial humour contained in the comic strips of T.O. Honiball could be considered as applied Afrikaans folklore based on this language’s oral story tradition. The article discusses the phases and factors influencing the development of the programme for use in a virtual language classroom, as well as its outcomes and content. Eventually the programme was used in a qualitative research programme where teaching students evaluated it on the basis of principles for additional language teaching.

  4. Folklore and traditional ecological knowledge of geckos in Southern Portugal: implications for conservation and science.

    Science.gov (United States)

    Ceríaco, Luis M P; Marques, Mariana P; Madeira, Natália C; Vila-Viçosa, Carlos M; Mendes, Paula

    2011-09-05

    Traditional Ecological Knowledge (TEK) and folklore are repositories of large amounts of information about the natural world. Ideas, perceptions and empirical data held by human communities regarding local species are important sources which enable new scientific discoveries to be made, as well as offering the potential to solve a number of conservation problems. We documented the gecko-related folklore and TEK of the people of southern Portugal, with the particular aim of understanding the main ideas relating to gecko biology and ecology. Our results suggest that local knowledge of gecko ecology and biology is both accurate and relevant. As a result of information provided by local inhabitants, knowledge of the current geographic distribution of Hemidactylus turcicus was expanded, with its presence reported in nine new locations. It was also discovered that locals still have some misconceptions of geckos as poisonous and carriers of dermatological diseases. The presence of these ideas has led the population to a fear of and aversion to geckos, resulting in direct persecution being one of the major conservation problems facing these animals. It is essential, from both a scientific and conservationist perspective, to understand the knowledge and perceptions that people have towards the animals, since, only then, may hitherto unrecognized pertinent information and conservation problems be detected and resolved.

  5. Eugenic and sexual folklores and the castration of sex offenders in the Netherlands (1938-1968).

    Science.gov (United States)

    van der Meer, Theo

    2008-06-01

    This contribution questions the positive/negative eugenics dichotomy that typifies the historiography on the eugenic movement in the Netherlands and the claim that this movement was mostly marginal because only positive eugenics was pursued. From 1938 to 1968 in the Netherlands, after a decade of debates, 400 sex offenders who had been committed to asylums for the criminally insane were 'voluntarily' and 'therapeutically' castrated. For political reasons debates on castration, meant to create consensus, eliminated any reference to or connotation with eugenics, yet these policies were unthinkable without them. This article shows that thinking about social and sexual problems and their solutions in the 1930s were permeated by eugenic folklore which in turn was informed by sexual folklore. Both eugenic and sexual lore, as common sense, or as ways of knowing, were about individual and collective loss of self control which was referred to with a catch-all phrase: 'hypersexuality'. Although sexual classifications used in diagnosing sex offenders suggested the existence of discrete sexual categories, homosexuality for instance was not seen as a sexual alternative or as an identity but as the extent to which an offender suffered from a form of hypersexuality that threatened the fabric of society.

  6. Medication-wide association studies

    NARCIS (Netherlands)

    P.B. Ryan (Patrick); D. Madigan (David); P.E. Stang (Paul); M.J. Schuemie (Martijn); G. Hripcsak (G.)

    2013-01-01

    textabstractUndiscovered side effects of drugs can have a profound effect on the health of the nation, and electronic health-care databases offer opportunities to speed up the discovery of these side effects. We applied a "medication-wide association study" approach that combined multivariate analys

  7. Medication-wide association studies

    NARCIS (Netherlands)

    P.B. Ryan (Patrick); D. Madigan (David); P.E. Stang (Paul); M.J. Schuemie (Martijn); G. Hripcsak (G.)

    2013-01-01

    textabstractUndiscovered side effects of drugs can have a profound effect on the health of the nation, and electronic health-care databases offer opportunities to speed up the discovery of these side effects. We applied a "medication-wide association study" approach that combined multivariate analys

  8. Folklore Life---On Jinggang Schoar Professor WAN Jianzhong%民俗人生--记井冈学者万建中教授

    Institute of Scientific and Technical Information of China (English)

    黄清喜

    2014-01-01

    Professor Wan Jianzhong makes fruitful contribution on the development of Chinese folklore,and mainly reflects his re-search and cultivating talents. On the research,his contribution is creative:Taboo research being in the leading position in China,in-novated the textbook system of folk literature,opened up the field of story study history,established and practised the thematolgy of folk literature,enhanced the study level of Chinese folk history,built Chinese folk culture subject,and showed the original idea in the study of Gan folkore. On the cultivating talents,he spares no effort to cultivate talents for the development of Chinese folklore. All the a-chievements portrait his folklore life,in which he perfectly integrates his life with his career.%万建中教授对中国民俗学的发展做出了卓有成效的贡献,主要表现为治学和人才培养。就治学而言,他的贡献富有创见:禁忌研究处于全国领先地位,创新民间文学教材体系,开辟故事学史研究领域,确立和实践民间文学主题学,提升中国民俗史研究水平,建立中国民间文化学和对赣民俗研究见解独到。就人才培养而言,他在教书育人过程中践行着涵养与学识并重的正能量,不遗余力地为中国民俗学的发展培养后备人才。这些成就的取得是他将生活与事业圆满融合的民俗人生的写照。

  9. El narco-folklore: narrativas e historias de la droga en la frontera

    Directory of Open Access Journals (Sweden)

    Howard Campbell

    2007-01-01

    Full Text Available Lo que el gobierno de los Estados Unidos ha llamado “La guerra contra las drogas” se basa en la idea de que el consumo y tráfi co de estupefacientes son inequívocamente actividades dañinas y peligrosas que la población del país temerá y rechazará. No obstante, los resultados de estudios etnográfi cos en la frontera Estados Unidos- México indican que el tráfi co de drogas se ha convertido en una actividad tan común que ha generado su propio estilo de subcultura, incluyendo música y folklore. Hasta la fecha los estudios antropológicos de la narco-cultura en la frontera se han enfocado en los narcocorridos, un género de música mexicana popular que celebra y narra el comercio de los estupefacientes y las vidas de trafi cantes de alto nivel. Estos estudios proporcionan perspectivas valiosas sobre los funcionamientos internos de las organizaciones de la droga y del contexto cultural de los cuales emergen. Sin embargo, la mayoría de los trabajadores del narcotráfi co no son los superhéroes o los bandidos ricos retratados en los narcocorridos. Es el pueblo, que tiene como principal motivación para involucrarse en el mundo de los estupefacientes la supervivencia económica. La imagen de un rico folklore de tráfi co de drogas se ha convertido en un perfi l común en la región fronteriza de El Paso / Ciudad Juárez. Este estudio etnográfi co muestra cómo este comercio se ha convertido en una parte “normal” de la vida diaria. El folklore cotidiano alrededor del tráfi co de drogas indica el grado en el cual el comercio de éstas afecta a los habitantes de la frontera en múltiples niveles.

  10. Screening for antimicrobial activity of ten medicinal plants used in Colombian folkloric medicine: A possible alternative in the treatment of non-nosocomial infections

    Directory of Open Access Journals (Sweden)

    Ocampo Saul A

    2006-02-01

    corroborated the antimicrobial activity of the selected plants used in folkloric medicine. All these plants were effective against three or more of the pathogenic microorganisms. However, they were ineffective against Streptococcus β hemolytic and Pseudomonas aeruginosa. Their medicinal use in infections associated with these two species is not recommended. This study also showed that Bixa orellana L, Justicia secunda Vahl. and Piper pulchrum C.DC could be potential sources of new antimicrobial agents.

  11. "Kinda like the folklore of its day": "Supernatural," fairy tales, and ostension

    Directory of Open Access Journals (Sweden)

    Catherine Tosenberger

    2010-03-01

    Full Text Available This essay considers the use of folklore in the television series Supernatural: the show does not simply retell folk narratives, but performs them both diegetically and metatextually in a process known as ostension. In the process of performance, main characters Sam and Dean often research and analyze the stories themselves, and perform portions of the folk narrative in order to bring about a resolution. This essay focuses upon episode 3.05 "Bedtime Stories," which does not simply depict the folk narrative genre of fairy tales, but also directly engages with the discourse surrounding fairy tales in popular culture; in particular, the episode reproduces widespread understandings of fairy tales as a gendered genre. The essay concludes with a discussion of fan fiction that uses fairy tales, seeing it as a transformative response to Supernatural's own transformation of folk narratives.

  12. Macaques in farms and folklore: exploring the human-nonhuman primate interface in Sulawesi, Indonesia.

    Science.gov (United States)

    Riley, Erin P; Priston, Nancy E C

    2010-09-01

    The island of Sulawesi is an ecologically diverse and anthropogenically complex region in the Indonesian archipelago; it is home to multiple macaque species and a key locus of human-nonhuman primate interconnections. Here, we review the ethnoprimatology of Sulawesi by exploring two primary domains of the human-macaque interface: overlapping resource use and cultural perceptions of macaques. Crop raiding is the primary form of overlapping resource use. While the raiding of cacao plantations predominates in Central and South Sulawesi, subsistence crops (e.g., sweet potato and maize) are most vulnerable on Buton, Southeast Sulawesi. Despite this overlap levels of conflict are generally low, with farmers showing considerable tolerance. This tolerance can be explained by positive perceptions of the macaques despite their crop raiding behavior, and the finding that in some areas macaques figure prominently in local folklore, hence affording them protection. These findings provide some hope for the future management and conservation of these endemic macaques.

  13. Confessions of a Wannabe (American Folklore Society Presidential Invited Plenary Address, October 2009).

    Science.gov (United States)

    Welsch, Roger

    2011-01-01

    This paper is a written rendering of a plenary address delivered at the 2009 Annual Meeting of the American Folklore Society. Drawing on materials from his forthcoming book Confessions of a Wannabe, the author provides a personal account of the deeply emotional sense of responsibility, obligation, and reciprocity involved in long-term ethnographic research among Native American communities, particularly the Omaha and Pawnee tribes of Nebraska. The author details the ways in which personal relations with the people and communities he has observed have shaped his personal and professional life, and he calls into question the ideal of purportedly neutral or distanced ethnography. Details are provided of the author's experiences in converting his farm into an appropriate reburial site for repatriated Pawnee remains recovered under the aegis of the Native American Graves Repatriation and Protection Act (NAGPRA).

  14. Research on Chang Renxia's Chinese Earlier Folklore Art%常任侠民俗艺术研究述略

    Institute of Scientific and Technical Information of China (English)

    吴衍发

    2012-01-01

    常任侠的《民俗艺术考古论集》是我国民俗艺术研究的开山之作。他在民俗艺术研究方面的贡献主要在于将社会学观点和艺术人类学方法应用于艺术和艺术史研究。同时他对上古艺术的研究极大地丰富了史学家对史料的认识,丰富了上古艺术史研究的资料库。其不足在于,研究大多集中于民俗艺术文物的调查、实证与研究方面,而较少涉及民俗艺术的基本理论问题,但不能因此而忽视他从社会学和考古学角度研究民俗艺术的意义和价值。%Chang Renxia's work "MinSu YiShu KaoGu LunJi" is the first collection about Chinese folklore art science research. His contribution in the field of folklore art study mainly lies in that he uses the sociological viewpoints and artistic anthropological methods to research art and art history. Meanwhile his research has enormously enriched the cognition of the antiquity data, and the data bank of antiquity art history research is also enriched. The shortage of his research is that these studies mostly concentrate on the investigation, real diagnosis and research, while little involves the elementary art theory, however, we cannot neglect the meanings and values of his research from the angle of sociological and archaeology .

  15. Análisis de la importancia de la inclusión del folklore y la tradición en la escuela

    OpenAIRE

    Pérez Martín, Beatriz

    2014-01-01

    El folklore es el acervo cultural de un pueblo, es la mejor forma de acercarnos a nosotros mismos, a nuestra cultura, nuestras costumbres, nuestra manera de pensar y en definitiva a nuestras raíces. Cuando hablamos de folklore, en nuestra mente aparecen infinidad de recuerdos de canciones, juegos, bailes, refranes, leyendas que nos hacen contactar con los perfiles de nuestros ancestros y con nuestra manera inconsciente y primaria de comprender las cosas. Con esta propuesta didáctica se pr...

  16. Association studies in consanguineous populations

    Energy Technology Data Exchange (ETDEWEB)

    Genin, E.; Clerget-Darpous, F. [Institut National d`Etudes Demographiques, Paris (France)

    1996-04-01

    To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the disease. In panmictic populations, the power to detect the role of a candidate gene depends on the gametic disequilibrium with the marker locus. In consanguineous populations, we show that it depends on the inbreeding coefficient F as well. Inbreeding increases the power to detect the role of a recessive or quasi-recessive disease-susceptibility factor. The gain in power turns out to be greater for small values of the gametic disequilibrium. Moreover, even in the absence of gametic disequilibrium, the presence of inbreeding may allow to detect the role of a recessive factor. Ignoring inbreeding when it exists may lead to reject falsely a recessive model if the mode of inheritance is inferred on the distribution of genotypes among patients. 5 refs., 6 figs., 1 tab.

  17. The Heritage of Soviet Paternalism in the Belarusian Countryside: The Moralization and Folklorization of the Social World

    OpenAIRE

    Ronan Hervouet; Alexander Kurilo

    2016-01-01

    In order to improve results in the agricultural sector, the Belarusian authorities have adopted different types of policies—which can be qualified as “paternalistic”—aiming to reform the behaviours of individuals. This article documents the way paternalist practices targeting Belarusian rural areas are not only a heritage from the Soviet past but also introduce forms of innovation, folklorization and nationalization of this Soviet legacy. The article is based on ethnographic evidence (observa...

  18. Die aard en funksie van Zoeloe-folklore in Die ding in die vuur van Riana Scheepers

    Directory of Open Access Journals (Sweden)

    G. H. Taljaard

    1999-05-01

    Full Text Available The nature and function of Zulu folklore in Die ding in die vuur by Riano ScheepersThis article is concerned with how and why Zulu folklore and oral narrative traditions are absorbed in the literature of the writer Riana Scheepers. Scheepers does not use Zulu culture in her work to make it part of the struggle genre. The question therefore arises: Why does Scheepers, a modern, even postmodern writer, make use of the prehistoric, ancient Zulu oral narrative tradition?As starting points for this article the following issues are explored: What is the nature of Zulu folklore and how has it been applied in the texts concerned? What is the function of Zulu folklore in Scheepers’ work?In the oral narrative tradition, the ugogo (grandmother is the narrator of the story and she tells her stories to the listeners (mostly children to educate them in a very entertaining way, but also to adjure many social evils, symbolized by a variety of characters, such as animals, monsters and tricksters. Riana Scheepers uses the ugogo to create a story within a story in front of the reader's eyes, in other words, she uses the ugogo to create metatextuality. By writing stories, Scheepers also edifies her readers in an entertaining manner and like the ugogo, she adjures many social evils like violence, poverty, chauvinism and racism. By transforming truth into fiction (fictionalization, she makes the harsh realities of life tolerable and in this way protects herself and her readers against the horrific realities of modern life.

  19. I.P. Chekhov’s story "Van’ka": the other side of the world. Issue on folklore tradition

    Directory of Open Access Journals (Sweden)

    Galieva Marianna Andreevna

    2016-03-01

    Full Text Available The paper considers the chrestomathy work of Russian literature - the story by A.P. Chekhov «Van’ka». On the one hand the story preserves the definition of «Christmas». Attention was drawn to the festival motive itself for the events that occurred in the sacred ritual hour. On the other hand, the archetypal patterns that are organically included in the poetics of narrative, require a certain folklore comment. So, archetype window hides transitional ritual, switching the reader’s eye to the domestic space into existential, Otherworldly. Also the fact of writing the letter «to nowhere», the problem lies drawn by the Russian people, «limit», an unknown land that genetically traced back to folk aesthetics, poetics of the fairy tale. The question of Chekhov’s folklorism is debatable, but it is worth noting that the folk tradition in poetics can manifest itself both overtly and latently. The most important are the forms of «hidden» folklorism, since they are organically integrated into the artistic fabric of the work.

  20. Overview of ethno-folkloric burns in the Republic of Slovenia.

    Science.gov (United States)

    Stritar, A; Brčić, A; Drnovšek, F; Malvasio, V

    2016-03-31

    The article describes typical folkloric- and ethnographic-related burns/scalds in Slovenia. All of the mentioned burns/scalds derive from the life of a nation, and are primarily a result of specific customs, traditions and activities carried out in a rural environment. Prolonged periods of lying on a hot tiled wood burner results in deep contact burns. The preparation work for pig slaughtering ('koline') is dangerous due to the large quantities of boiling water required for the slaughter process and meat production technology. Distilling spirits in an improvised domestic setting is another cause of burns/scalds, as the production of spirits is carried out in several stages with a high risk of burn trauma in the event of negligence. These types of burns/scalds occur in rural farming areas. Such injuries are most often ignored and patients, children excepted, do not seek medical help until later, after they have completed their activity. Due to aggressive thermal agents, these are deep burns that often require specialist surgical care with long-term treatment. Results are evaluated on the basis of a tenyear statistical and clinical experience. Incidence of the aforementioned burns is considerably lower today than it was in the past due to national prevention measures and new European legislation on energy and agriculture. In the future, we expect these distinctive burns/scalds to become a rarity.

  1. Polifonia nelle antologie di W.B. Yeats: il dialogo complesso tra folklore e letteratura

    Directory of Open Access Journals (Sweden)

    Vito Carrassi

    2014-07-01

    Full Text Available Compiling and publishing a folk narrative anthology is anything but a trivial, neutral undertaking, especially if this is set in a period of great literary and cultural fervour as was the late XIX century in Ireland. With his Fairy and Folk Tales of the Irish Peasantry (1888 and Irish Fairy Tales (1892 W.B. Yeats gives rise to a complex narrative system in which, necessarily, heterogeneous, if not contradictory voices and points of view meet, and the editor’s task is precisely to make this polyphony work. In the anthologized stories one observes the overlapping and interweaving of narrative levels that reflect a wide range of ideas, beliefs, knowledge, values from which emerges a picture of cultural and social Irish stratification, as well as of relationships being established between the lower and ruling classes, folklore and literature, orality and literacy. After examining in general the folk narrative anthology as an inherently polyphonic object, I propose a specific reading of the Yeatsian collections, focusing in particular on the paratextual apparatus, namely on the borders, the frames of the text – where interactions take place between several narrative levels, as well as historical, cultural, and social meanings – in order to identify, if possible, elements of unity and coherence in a system constitutively plurivocal and open to a variety of interpretations.

  2. Anticancer activity of five forest crops used in African folklore: antiproliferative and pro-apoptotic effects.

    Science.gov (United States)

    Erharuyi, Osayemwenre; Engel-Lutz, Nadja; Ahomafor, Joy; Imieje, Vincent; Falodun, Abiodun; Nebe, Babara; Langer, Peter

    2014-02-26

    Acalypha wilkesiana, Caesalpinia bonduc, Jatropha multifida, Momordica charantia and Picralima nitida used in African folklore for treating cancer were investigated. All extracts except J. multifida resulted in no significant alteration in cell cycle distribution and apoptosis in MCF-7 and BT-20. The J. multifilda (JMR-Ch) caused cell cycle arrest at G1 checkpoint and apoptosis in MCF-7. Slight changes in the integrin expression of MCF-7 after treatment with 1 and 10 μg/mL of JMR-Ch were observed. Fluorescence-activated confocal microscopy shows changes in cell morphology and β1 integrin localisation within MCF-7 cells after exposure to 10 and 25 μg/mL of JMR-Ch. JMR-Ch (1 μg/mL) treatment resulted in time-dependent decrease in cell acidification and respiration in MCF-7 cells and a time-dependent decrease in BT-20 cell respiration, while in MCF-10A, there was an enhancement of acidification. These results revealed the probable application of JMR-Ch in cancer therapy.

  3. Plant derived substances with anti-cancer activity: from folklore to practice.

    Science.gov (United States)

    Fridlender, Marcelo; Kapulnik, Yoram; Koltai, Hinanit

    2015-01-01

    Plants have had an essential role in the folklore of ancient cultures. In addition to the use as food and spices, plants have also been utilized as medicines for over 5000 years. It is estimated that 70-95% of the population in developing countries continues to use traditional medicines even today. A new trend, that involved the isolation of plant active compounds begun during the early nineteenth century. This trend led to the discovery of different active compounds that are derived from plants. In the last decades, more and more new materials derived from plants have been authorized and subscribed as medicines, including those with anti-cancer activity. Cancer is among the leading causes of morbidity and mortality worldwide. The number of new cases is expected to rise by about 70% over the next two decades. Thus, there is a real need for new efficient anti-cancer drugs with reduced side effects, and plants are a promising source for such entities. Here we focus on some plant-derived substances exhibiting anti-cancer and chemoprevention activity, their mode of action and bioavailability. These include paclitaxel, curcumin, and cannabinoids. In addition, development and use of their synthetic analogs, and those of strigolactones, are discussed. Also discussed are commercial considerations and future prospects for development of plant derived substances with anti-cancer activity.

  4. “The Birds of Clay”: An Apocryphal Motif in Folklore Legends

    Directory of Open Access Journals (Sweden)

    Olga V. Belova

    2015-08-01

    Full Text Available The article describes the adaptation of the apocryphal Gospels motif—the revival of clay birds by Jesus—in the folk traditions of Eastern and Western Slavs. The texts of folk legends demonstrate not only the active inclusion of apocryphal motifs in oral narratives, but they also incorporate the motifs’ biblical contexts and they emphasize themes that are close to everyday life and that reflect local history. The folklore texts analyzed here are from different regions of the Slavic world (Russia, Ukraine, Belarus, and Poland; they allow us to conclude that the oral tradition has retained, with great stability, these fragments from medieval sources up to the present day. Moreover, it is interesting to note the different interpretations of the same motif in monuments of Christian and Jewish literature (apocryphal Gospels and the pamphlet Toledot Yeshu.The fairly large group of folk legends with apocryphal motifs, occurring in different Slavic traditions from the 19th to the 21st centuries, thus testifies not only to the continued relevance of the biblical plots for oral culture, but also to the importance of the Apocrypha for the broadcasting and preservation of biblical stories in the folk tradition.

  5. Influence of communal and private folklore on bringing meaning to the experience of persistent pain.

    Science.gov (United States)

    Hendricks, Joyce Marie

    2015-11-01

    To provide an overview of the relevance and strengths of using the literary folkloristic methodology to explore the ways in which people with persistent pain relate to and make sense of their experiences through narrative accounts. Storytelling is a conversation with a purpose. The reciprocal bond between researcher and storyteller enables the examination of the meaning of experiences. Life narratives, in the context of wider traditional and communal folklore, can be analysed to discover how people make sense of their circumstances. This paper draws from the experience of the author, who has previously used this narrative approach. It is a reflection of how the approach may be used to understand those experiencing persistent pain without a consensual diagnosis. Using an integrative method, peer-reviewed research and discussion papers published between January 1990 and December 2014 and listed in the CINAHL, Science Direct, PsycINFO and Google Scholar databases were reviewed. In addition, texts that addressed research methodologies such as literary folkloristic methodology and Marxist literary theory were used. The unique role that nurses play in managing pain is couched in the historical and cultural context of nursing. Literary folkloristic methodology offers an opportunity to gain a better understanding and appreciation of how the experience of pain is constructed and to connect with sufferers. Literary folkloristic methodology reveals that those with persistent pain are often rendered powerless to live their lives. Increasing awareness of how this experience is constructed and maintained also allows an understanding of societal influences on nursing practice. Nurse researchers try to understand experiences in light of specific situations. Literary folkloristic methodology can enable them to understand the inter-relationship between people in persistent pain and how they construct their experiences.

  6. 论民俗符号的美学意义%The Aesthetic Meaning of Folklore Symbols

    Institute of Scientific and Technical Information of China (English)

    徐军义

    2012-01-01

    民俗是一种具有结构性、完整性和自由性的文化符号系统。"民俗"中"民"的主体是社会生活中的人,他们具有共时性和历时性的特征;"俗"是人类社会实践中的一种文化模式,它们具有多样性和自由性。人类在历史实践中创造了民俗符号系统,它承载了一定的文化内容,文化内容使符号形式具有了意义,符号形式又引导和规范了人的生命存在样式。在民俗符号系统中,内蕴了人类生命的自由创造和形式表达,它们具有文化象征的功能和价值。%Folklore is a cultural symbol system with its structure, integrity and freedom. People are the subject of social life in folklore and have the synchronic and diachronic characteristics; Customs is the kind of cultural mode of human social practice in folklore, full of diversity and freedom. In the human practice, man created the symbolic form, carrying culture content, and culture makes symbols have a sense, and symbolic form guide and regulate the people' s life. In folk symbolic system, it is embodied the free creation and the forms of expression of human life, having the function and value of the cultural symbol.

  7. Die aard en funksie van Zoeloe-folklore in Die ding in die vuur van Riana Scheepers

    OpenAIRE

    G.H. Taljaard

    1999-01-01

    The nature and function of Zulu folklore in Die ding in die vuur by Riano ScheepersThis article is concerned with how and why Zulu folklore and oral narrative traditions are absorbed in the literature of the writer Riana Scheepers. Scheepers does not use Zulu culture in her work to make it part of the struggle genre. The question therefore arises: Why does Scheepers, a modern, even postmodern writer, make use of the prehistoric, ancient Zulu oral narrative tradition?As starting points for thi...

  8. Genetic association studies in lumbar disc degeneration

    DEFF Research Database (Denmark)

    Eskola, Pasi J; Lemmelä, Susanna; Kjaer, Per

    2012-01-01

    Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans....

  9. Assessment of total phenolic compounds and in vitro free radical scavenging potentials of water extracts of ten selected species of Zingiberaceae rhizomes use in folkloric medicine.

    Science.gov (United States)

    Adekoya, Alafiatayo Akinola; Ahmad, Syahida; Maziah, Mahmood

    2016-05-01

    The use of herbal medicine and traditional healing practices for diagnosis, treatment and prevention of illness and ailment continue to have more awareness among the scientific community due to their safety and also as a source of alternatives to synthetic products. This research assessed the total phenolic compounds and in vitro total antioxidant potentials of water extracts in selected species of Zingiberaceae rhizomes use as spice, drinks and medicine. DPPH and FRAP were used to determine the antioxidant capacity, total flavonoid, phenolic acids and polyphenol contents assays to evaluate the quality of the antioxidant activity and the control was ascorbic acid. The results showed that all extracts contain significant antioxidant activity with Zingiber officinale having the highest activity in all assays. DPPH (222.30mg/TE/g DW), FRAP (98.04mg/TE/g DW), Flavonoid (38.58mg/NGN/g DW) phenolic acid (10.78mg/GAE/g DW) and polyphenols (22.84mg/GAE/g DW). Significant and positive linear correlation were found in DPPH, FRAP and total flavonoid, phenolic acids and polyphenol contents. This study reveals some phytochemicals present in Zingiberaceae species, which might be responsible for their biological activities and reason for it use in folkloric medicine in Southeast Asia.

  10. Conservation Implications of the Prevalence and Representation of Locally Extinct Mammals in the Folklore of Native Americans

    Directory of Open Access Journals (Sweden)

    Preston Matthew

    2009-01-01

    Full Text Available Many rationales for wildlife conservation have been suggested. One rationale not often mentioned is the impact of extinctions on the traditions of local people, and conservationists′ subsequent need to strongly consider culturally based reasons for conservation. As a first step in strengthening the case for this rationale, we quantitatively examined the presence and representation of eight potentially extinct mammals in folklore of 48 Native American tribes that live/lived near to 11 national parks in the United States. We aimed to confirm if these extinct animals were traditionally important species for Native Americans. At least one-third of the tribes included the extinct mammals in their folklore (N=45 of 124 and about half of these accounts featured the extinct species with positive and respectful attitudes, especially the carnivores. This research has shown that mammals that might have gone locally extinct have been prevalent and important in Native American traditions. Research is now needed to investigate if there indeed has been or might be any effects on traditions due to these extinctions. Regardless, due to even the possibility that the traditions of local people might be adversely affected by the loss of species, conservationists might need to consider not only all the biological reasons to conserve, but also cultural ones.

  11. Evaluation on Community Participation in Folk Cultural Tourism---A case study of Manchu folklore tourism in Yongling town%民俗文化旅游的社区参与评价--以永陵镇满族旅游为例

    Institute of Scientific and Technical Information of China (English)

    佟玉权

    2014-01-01

    Effective community participation in folk cultural tourism has special significance for the promotion of cultural heritage protection, the healthy development of tourism industry and the harmony of society. Based on the theoretical exploration of community participation in folk culture tourism and the study on community participation in tourism in Yongling Town, Xinbin Manzu autonomous county of Liaoning province, the paper maintains that im-proving community participation in folk cultural tourism should enhance residents′ communi-ty culture identification, make full use of education training means and non-government or-ganizations to improve the ability of community participating in folk cultural tourism, and es-tablish favourable policy to promote community participation for the purpose of improving community participation.%社区有效参与民俗文化旅游对促进民俗文化遗产的保护、旅游业的发展以及社会和谐有着特殊意义。提高民俗文化旅游的社区参与度应增强居民对自身文化的认同感,要充分利用教育培训手段和发挥民间社团组织的作用、提高社区居民参与民俗文化旅游的能力,并通过政策引导和各项机制保障,来达到提高参与效果的目的。

  12. Nación mestiza: el caso de la Revista de Folklore en Colombia, 1947-2011

    Directory of Open Access Journals (Sweden)

    Diego Fernando Buitrago Suárez

    2017-01-01

    Full Text Available Los estudios sobre el folclor colombiano han constituido un lugar propicio para los debates sobre la identidad regional y nacional, la autenticidad de los productos culturales y los proyectos de nación vinculados bien sea al blanqueamiento, al mestizaje o al multiculturalismo. Se propone la indagación de esta dinámica a propósito de la Revista de Folklore (1947-2011, estableciendo las condiciones mediante las que el folclor se inscribe en un sistema de producción cultural, su relación con diferentes modelos de políticas culturales en torno a la nación que posibilitaron su reconocimiento como objeto de estudio, teniendo en cuenta las tensiones entre raza, clase social y cultura que llevaron a una perspectiva patrimonial y no conflictiva de la identidad nacional, así como las proyecciones que puede tener su estudio en el siglo xxi.

  13. Nación mestiza: el caso de la Revista de Folklore en Colombia, 1947-2011

    Directory of Open Access Journals (Sweden)

    Diego Fernando Buitrago Suárez

    2017-01-01

    Full Text Available Los estudios sobre el folclor colombiano han constituido un lugar propicio para los debates sobre la identidad regional y nacional, la autenticidad de los productos culturales y los proyectos de nación vinculados bien sea al blanqueamiento, al mestizaje o al multiculturalismo. Se propone la indagación de esta dinámica a propósito de la Revista de Folklore (1947-2011, estableciendo las condiciones mediante las que el folclor se inscribe en un sistema de producción cultural, su relación con diferentes modelos de políticas culturales en torno a la nación que posibilitaron su reconocimiento como objeto de estudio, teniendo en cuenta las tensiones entre raza, clase social y cultura que llevaron a una perspectiva patrimonial y no conflictiva de la identidad nacional, así como las proyecciones que puede tener su estudio en el siglo xxi.

  14. The use of medicinal herbs in gynecological and pregnancy-related disorders by Jordanian women: a review of folkloric practice vs. evidence-based pharmacology.

    Science.gov (United States)

    Akour, Amal; Kasabri, Violet; Afifi, Fatma U; Bulatova, Nailya

    2016-09-01

    Context National statistical reports in Jordan indicate a decrease in the total fertility rate along with a parallel increase in contraceptive use. The folkloric use of medicinal herbs in gynecological disorders has been growing in Jordan, despite of deficient reports on the evidence-based safety and efficacy of these practices. Objective The aim of this comprehensive article is to review medicinal plants with claimed ethnonpharmacological usage in various gynecological and pregnancy-related issues in Jordan, and to assess their evidence-based pharmacological studies as well as their phytochemistry. Methods The published literature was surveyed using Google Scholar entering the terms "ethnopharmacology AND Jordan AND infertility AND gynecology OR gestation". We included ethnopharmacological surveys in Jordan with available full-text. Results Twelve articles were reviewed. Plant species which are commonly used for female gynecological issues such as Artemisia monosperma Del. and A. herba-alba Asso. (Asteraceae) have been found to exert an antifertility effect. Ricinus communis L. (Euphorbiaceae) and Citrullus colocynthis (L.) Schrad. (Cucurbitaceae) had antifertility effects in male rats, but Nigella sativa oil L. (Ranunculaceae) and Cinnamon zeylanicum J. Presl (Lauraceae) were found to enhance it. Conclusion Using plants for gynecological disorders is a common practice in Jordan. Many of them, whether utilised for gynecological or non-gynecological conditions equally, were found to have detrimental effects on female or male fertility. Thus, couples planning pregnancy should be discouraged from the consumption of these herbs. Further local studies are warranted to confirm the appreciable beneficial pharmacological effects and safety of these plants.

  15. A Comparative Study of Sparse Associative Memories

    Science.gov (United States)

    Gripon, Vincent; Heusel, Judith; Löwe, Matthias; Vermet, Franck

    2016-07-01

    We study various models of associative memories with sparse information, i.e. a pattern to be stored is a random string of 0s and 1s with about log N 1s, only. We compare different synaptic weights, architectures and retrieval mechanisms to shed light on the influence of the various parameters on the storage capacity.

  16. Understanding Salesforce Behavior using Genetic Association Studies

    NARCIS (Netherlands)

    W.E. van den Berg (Wouter)

    2014-01-01

    markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of the

  17. Understanding Salesforce Behavior using Genetic Association Studies

    NARCIS (Netherlands)

    W.E. van den Berg (Wouter)

    2014-01-01

    markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of the

  18. Associative Visual Agnosia: A Case Study

    OpenAIRE

    A. Charnallet; Carbonnel, S.; David, D; Moreaud, O

    2008-01-01

    We report a case of massive associative visual agnosia. In the light of current theories of identification and semantic knowledge organization, a deficit involving both levels of structural description system and visual semantics must be assumed to explain the case. We suggest, in line with a previous case study [1], an alternative account in the framework of (non abstractive) episodic models of memory [4].

  19. Associative visual agnosia: a case study.

    Science.gov (United States)

    Charnallet, A; Carbonnel, S; David, D; Moreaud, O

    2008-01-01

    We report a case of massive associative visual agnosia. In the light of current theories of identification and semantic knowledge organization, a deficit involving both levels of structural description system and visual semantics must be assumed to explain the case. We suggest, in line with a previous case study, an alternative account in the framework of (non abstractive) episodic models of memory.

  20. Associative Visual Agnosia: A Case Study

    OpenAIRE

    A. Charnallet; S. Carbonnel; David, D.; Moreaud, O.

    2008-01-01

    We report a case of massive associative visual agnosia. In the light of current theories of identification and semantic knowledge organization, a deficit involving both levels of structural description system and visual semantics must be assumed to explain the case. We suggest, in line with a previous case study [1], an alternative account in the framework of (non abstractive) episodic models of memory [4].

  1. Functional analysis of variance for association studies.

    Directory of Open Access Journals (Sweden)

    Olga A Vsevolozhskaya

    Full Text Available While progress has been made in identifying common genetic variants associated with human diseases, for most of common complex diseases, the identified genetic variants only account for a small proportion of heritability. Challenges remain in finding additional unknown genetic variants predisposing to complex diseases. With the advance in next-generation sequencing technologies, sequencing studies have become commonplace in genetic research. The ongoing exome-sequencing and whole-genome-sequencing studies generate a massive amount of sequencing variants and allow researchers to comprehensively investigate their role in human diseases. The discovery of new disease-associated variants can be enhanced by utilizing powerful and computationally efficient statistical methods. In this paper, we propose a functional analysis of variance (FANOVA method for testing an association of sequence variants in a genomic region with a qualitative trait. The FANOVA has a number of advantages: (1 it tests for a joint effect of gene variants, including both common and rare; (2 it fully utilizes linkage disequilibrium and genetic position information; and (3 allows for either protective or risk-increasing causal variants. Through simulations, we show that FANOVA outperform two popularly used methods - SKAT and a previously proposed method based on functional linear models (FLM, - especially if a sample size of a study is small and/or sequence variants have low to moderate effects. We conduct an empirical study by applying three methods (FANOVA, SKAT and FLM to sequencing data from Dallas Heart Study. While SKAT and FLM respectively detected ANGPTL 4 and ANGPTL 3 associated with obesity, FANOVA was able to identify both genes associated with obesity.

  2. Language and folklore in Hamid Mosaddeq’s poem

    Directory of Open Access Journals (Sweden)

    نداسادات IRAN

    2016-01-01

    Full Text Available Abstract"Standard language", "sub-standard language" and "meta-standard language" are the language types of many varieties. Use of sub- standard language in making poetry, known as “stylistic deviation”, is one of the ways of highlighting poetic language. More attention to this technique of language in the contemporary period was paid by Nima. Nima believed that all words have the potentiality to enter the realm of poetry. No word is essentially poetic or non-poetic, but the way of using words by the poet determines its poetic value.Hamid Mossadegh by the use of sub-standard language elements, in addition to increasing the richness of his poems, made them closer to the mind, language and life of people. Folkloric elements of Mosaddeq’s poems were divided into seven groups: 1 Slang words, 2 common and spoken vocabulary 3 Irony and Proverbs 4 Tlfzhay popular 5 allusion to folk tales 6 folk beliefs and customs 7 local vocabulary.Slang words in poems Mosaddeq in the "verb" and "noun" have been examined. Many folk verbs such as "Shangidan" and "gap zadan (to chat" in Mosaddeq’s poems have been applied. Some of folk verbs in his poems are in such a way that at first, one could not understand the point. These verbs have several meanings that one or more specific meanings are slang, like verb "gereftan (to get" that means "to grow the root of the plant" has slang sense.There is an abundance application of folk nouns in Mosaddeq’s poem. Some of the nouns used in Mosaddeq’s poem, considering their figurative meanings, can be investigated in the folk nouns group, like "foot" in the figurative sense of "will"."Colloquial and current words are of the most frequent elements of folk words in the poetry of Mosaddeq. These words in the category of "nouns" and "verbs" could be analyzed. Lexical verbs such as "to hip" and "Perfume of Moskow" are of this kind. "Irony and Proverbs" are the other folk elements of the poetry of Mosaddeq

  3. Associative Visual Agnosia: A Case Study

    Directory of Open Access Journals (Sweden)

    A. Charnallet

    2008-01-01

    Full Text Available We report a case of massive associative visual agnosia. In the light of current theories of identification and semantic knowledge organization, a deficit involving both levels of structural description system and visual semantics must be assumed to explain the case. We suggest, in line with a previous case study [1], an alternative account in the framework of (non abstractive episodic models of memory [4].

  4. Le folklore enfantin peut-il contribuer à la sensibilisation précoce aux langues étrangères ?

    OpenAIRE

    Arleo, Andy

    2008-01-01

    Children's folklore (CF) refers to speech, behavior, objects and mental representations that are exchanged by word of mouth among children in their peer groups, linked to a collective play context and marked by variation in time and space. This living oral tradition is particularly rich in terms of language, poetics, music and movement, including for example play rhymes (e.g., for handclapping or jump-rope), counting-out rhymes, tonguetwisters, riddles, secret languages, storytelling, jeers a...

  5. Gastroschisis and associated defects: an international study.

    LENUS (Irish Health Repository)

    Mastroiacovo, Pierpaolo

    2007-04-01

    Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio-vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review.

  6. 《五十二病方》中的巫术与民俗%Witchcraft medicine and folklore in Wushierbingfang (Prescriptions for Fifty-two Diseases)

    Institute of Scientific and Technical Information of China (English)

    贾海燕

    2010-01-01

    One important characteristic of early stage of TCM is the intermixture of witches medicine and folklore.A few witch prescriptions in Wushierbingfang (Prescriptions for Fifty -two Diseases ) indicated the residual traces of the mixture of witch and medicine in the medical literatures.The witch prescriptions recorded in Wushierbingfang( Prescriptions for Fifty-two Diseases ) could be divided into supplication,Yu-step, exorcism, Nuo ritual and peach wood charms etc.Witchcraft developed into folklore and the application of witchcraft sometimes manifested as the form of folklore, which were also reflected in the records of Wushierbingfang ( Prescriptions for Fifty-two Diseases).%巫医混杂是古代早期医学的一个重要特征.战国时期中的少量巫方的保留,正是医混杂现象在医学文献中残留的痕迹.中记载的巫方可分为祝由、禹步、祓除、傩礼、桃符等.巫同时又演变为民风民俗,术的实施常常表现民风民俗的形式,的记载对此也有一定反映.

  7. Alberta Folklore and Local History Collection--A Digital Library of Local Folklore%地方民俗数字图书馆--阿尔伯塔传统与当地历史典藏中心

    Institute of Scientific and Technical Information of China (English)

    刘燕权; 刘晓东; 杨晴虹

    2015-01-01

    阿尔伯塔传统与当地历史典藏中心致力于收藏加拿大阿尔伯塔地区历史和风俗知识,为阿尔伯塔文化的传播和共享做出贡献。主要藏品为1941-1946年间收藏的资料,从2000年6月开始实施数字化,收集的各种类型资料多达1000多份,具有较高的文献价值。本案例介绍该项目的历史背景、信息资源组织状况,服务和技术特点。%Alberta Folklore and Local History Col ection aims at providing the local history and culture of Alberta in Canada. The majority of the col ections were completed during 1941-1946 while the digitalization started in June 2000. The col ection boasts nearly 1000 anecdotes, essays, poetry, tal tales, personal reminiscences of Alberta pioneers, school histories and yearbooks, photographs, correspondences, plays and radio scripts, newspaper clippings, and excerpts of stories from published documents. Those materials play an important role in broadcasting and sharing of the Alberta culture. This paper tries to explore the project based on the background, col ection organization, service and technology features, then make objective comments.

  8. A Study on Associative Neural Memories

    OpenAIRE

    B.D.C.N.Prasad; P. E. S. N. Krishna Prasad; Sagar Yeruva; P Sita Rama Murty

    2011-01-01

    Memory plays a major role in Artificial Neural Networks. Without memory, Neural Network can not be learned itself. One of the primary concepts of memory in neural networks is Associative neural memories. A survey has been made on associative neural memories such as Simple associative memories (SAM), Dynamic associative memories (DAM), Bidirectional Associative memories (BAM), Hopfield memories, Context Sensitive Auto-associative memories (CSAM) and so on. These memories can be applied in vari...

  9. Studying risk factors associated with Human Leptospirosis

    Directory of Open Access Journals (Sweden)

    Ramachandra Kamath

    2014-01-01

    Full Text Available Background: Leptospirosis is one of the most under diagnosed and underreported disease in both developed and developing countries including India. It is established that environmental conditions and occupational habit of the individuals put them at risk of acquiring disease, which varies from community to community. Various seroprevalence studies across the world have documented emerging situation of this neglected tropical disease, but limited have probed to identify the risk factors, especially in India. Objectives: The objective of this study was to identify the environmental and occupational risk factors associated with the disease in Udupi District. Materials and Methods: This population-based case-control study was carried out in Udupi, a District in Southern India from April 2012 until August 2012. Udupi is considered to be endemic for Leptospirosis and reported 116 confirmed cases in the year 2011. Seventy of 116 laboratory confirmed cases and 140 sex matched neighborhood healthy controls participated in the study. A predesigned, semi-structured and validated questionnaire was used for data collection through house to house visit and observations were noted about environmental conditions. Univariate analysis followed by multivariate analysis (back ward conditional logistic regression was performed by using STATA version 9.2 (StataCorp, College Station, TX, USA to identify potential risk factors. Results: Occupational factors such as outdoor activities (matched odds ratio [OR] of 3.95, 95% confidence interval [CI]: 1.19-13.0, presence of cut or wound at body parts during work (matched OR: 4.88, CI: 1.83-13.02 and environmental factors such as contact with rodents through using the food materials ate by rat (matched OR: 4.29, CI: 1.45-12.73 and contact with soil or water contaminated with urine of rat (matched OR: 4.58, CI: 1.43-14.67 were the risk factors identified to be associated with disease. Conclusion: Leptospirosis is still

  10. 浙地民俗诗对宋诗的领域拓展及手法创新%The Theme Expansion and Technique Creation of the Folklore Poems in the Zhejiang Area to the Poetry in the Song Dynasty

    Institute of Scientific and Technical Information of China (English)

    蒋东玲

    2012-01-01

    宋代两浙地区民俗诗创作十分繁荣,专题民俗诗大量涌现。专题民俗诗从纵横两个方面拓展了宋诗题材的表现领域和表现深度,并强调表现手法与民俗主题的契合度,其典型的表现手法有情境特写、全景鸟瞰、流程展示以及群像展览等,皆是对宋诗表现手法的丰富与拓展,增强了诗歌对于民俗文化的表现力度与史料价值。%Folklore poetry creation was prosperous in the Liangzhe Region in the Song Dynasty and a multitude of folklore poems concerning specific subjects emerged. Those folklore poems expanded and deepened the Song Dynasty poems horizontally and vertically, and focused on fit of the theme of the folklore with the techniques of expressions. Some typical expressions such as situational closeup, panoramic view, process demonstration and group- image display enriched and developed the techniques of expressions of the poetry in the Song Dynasty, which strengthened the expressive force of poems on folklore cultures and their historical value.

  11. 'Smoking genes': a genetic association study.

    Directory of Open Access Journals (Sweden)

    Zoraida Verde

    Full Text Available Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A [rs1801272], CYP2A6*9 (-48T>G [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T [rs8192789], CYP2A13*3 (7520C>G, CYP2A13*4 (579G>A, CYP2A13*7 (578C>T [rs72552266], CYP2B6*4 (785A>G, CYP2B6*9 (516G>T, CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A [rs1800497], 5HTT LPR, HTR2A -1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126 and ethnically matched never smokers (controls, N = 80. The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A polymorphisms was 3.60 (95%CI: 1.75, 7.44 and 2.63 (95%CI: 1.41, 4.89 respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65. We found a significant genotype effect (all P≤0.017 for the following smoking-related phenotypes: (i cigarettes smoked per day and CYP2A13*3; (ii pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A; (iii nicotine dependence (assessed with the Fagestrom test and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5, serotoninergic (HTR2A, opioid (OPRM1 or cannabinoid receptors (CNR1.

  12. Complexity, Diversity and Management: Some Reflections on Folklore and Learning Leadership in Education

    Science.gov (United States)

    Rayner, Stephen G.

    2008-01-01

    This article seeks to challenge a perceived mythology previously touched upon which is now widely established in the English educational system and is associated with what the author has elsewhere called the establishment model of educational policy. This establishment model is grounded in a "state learning theory." It reflects a set of…

  13. An ethnomedicinal survey and documentation of important medicinal folklore food phytonims of flora of Samahni valley, (Azad Kashmir) Pakistan.

    Science.gov (United States)

    Ishtiaq, Muhammad; Hanif, Wajahat; Khan, M A; Ashraf, M; Butt, Ansar M

    2007-07-01

    Ethnobotanical knowledge is one of the precious cultural heritage parts of an area that involves the interaction between plants and people and foremost among these are the management of plant diversity by indigenous communities and the traditional use of medicinal plants. An ethnobotanical analysis was conducted in order to document the traditional medicinal uses of plants, particularly medicinally important folklore food phytonims of flora of Samahni valley, Azad Kashmir (Pakistan). In the valley, inhabitants use different taxa of flora in two different ways; herbal medicines and food (vegetable and fruits) medicines. The distinctive geographic position and historic demological background of the area keep folk phytotherapy potential of medicinal herbs hitherto alive, which are used in various forms; as regular herbal medicines prescribed by Hakeems (herbal practitioners) and as food (medicines) recepies suggested by elder people. Among these, some herbs are used as single remedy while others depict better curative effects in synergistic mode against various ailments. Some interesting and uncommon findings are as; Sisymbrium irio is used for treatment of measles, asthma; Solanum miniatum to cure urinary calculi, heart pain, rheumatism, Momordica balsamina leaves as wound healer; Allium sativum bulb juice as anti cancer, contraceptive, blood pressure; Boerhavia diffusa roots as anti jaundice, anemia, edema; Capsicum annuum fruit as omen against evil eye and giant, yellow fever; Corriandrum sativum seeds as diuretic, anti spermatogenesis; Raphanus sativus seeds against syphilis; Solanum miniatum fruit for treatment of enlarged spleen and liver; seed's oil of Pisum sativum as anti spermatogenesis; Bauhinia variegata for skin diseases, ulcers; Malva sylvestris for cough, bladder ulcer; Phoenix sylvestris kernel as anti-aging tonic; Phyllanthus emblica for diuretic, anemia, biliousness; Terminalia chebula to cure chronic ulcers, carious teeth pain, heart problems

  14. The National Basketball Association eye injury study.

    Science.gov (United States)

    Zagelbaum, B M; Starkey, C; Hersh, P S; Donnenfeld, E D; Perry, H D; Jeffers, J B

    1995-06-01

    To investigate the epidemiology of eye injuries sustained by professional basketball players in the National Basketball Association (NBA). A prospective study involving all NBA athletes who sustained eye injuries between February 1, 1992, and June 20, 1993, was conducted. Twenty-seven NBA team athletic trainers, physicians, and ophthalmologists were provided data forms to complete for any player examined for an eye injury. Practice and game exposures during the preseason, regular season, playoffs, and championships were included. Of the 1092 injuries sustained by NBA players during the 17-month period, 59 (5.4%) involved the eye and adnexa. Eighteen (30.5%) of the injuries occurred while the player was in the act of rebounding, and 16 (27.1%) while the player was on offense. The most common diagnoses included 30 abrasions or lacerations to the eyelid (50.9%), 17 contusions (edema and/or ecchymosis) to the eyelid or periorbital region (28.8%), and seven corneal abrasions (11.9%). There were three orbital fractures (5.1%). Most injuries were caused by fingers (35.6%) or elbows (28.8%). Nine players (15.3%) missed subsequent games because of their injury. Fifty-seven players (96.6%) were not wearing protective eyewear at the time of injury. The incidence of eye injuries in NBA players during the 17-month period was 1.44 per 1000 game exposures. Frequent physical contact in professional basketball players leaves them at great risk for sustaining eye injuries. To prevent these injuries, protective eyewear is recommended.

  15. FOLKLORE ELEMENTS IN BEDRİ RAHMİ EYUBOGLU’S POEMS BEDRİ RAHMİ EYÜBOĞLU’NUN ŞİİRLERİNDE HALK BİLİMİ UNSURLARI

    Directory of Open Access Journals (Sweden)

    Bahar DOĞAN

    2012-01-01

    Full Text Available The aim of this study is to figure out the folklore elements in Eyuboglu’s poems. Thus, his poem books Dol Karabakır Dol and Karadut were examined. In this study, research model was used. In interpreting the results of the study 25 items which were classified by Ornek in his book “Turk Halk Bilimi”, were used.The examples in Eyuboglu’s poems includes village,town and city life; folk architecture; vecihles and transportation technics; ecomomic type; classic folk-economy; nutrition, cuisine, storeroom; measurement, weighing and calculating methods; folk arts and handmade craft; folklore; folk believes, customs and traditions; transition period; stereotyped behaves and expression; folk literature; folk dance; folk music and folk musical instruments.The poet in his pems give place to folk songs and folk arts enormously. The poets who says “ Whenever I hear a village song , I feel shame of my poesy’’ aslo give places to beauty of his country. Occasionally usuing local accents in his poems makes him a simple one from the public.According to this study giving place Eyuboglu’s poems in the textbooks can be an important step for growing up persons who have versatile personality. Bu araştırma Bedri Rahmi Eyüboğlu’nun şiirlerindeki halk bilimi unsurlarını belirlemek amacıyla yapılmıştır. Bu doğrultuda Eyüboğlu’nun Dol Karabakır Dol ve Karadut şiir kitapları incelenmiştir. Araştırmada tarama modeli kullanılmıştır. Elde edilen bulguların yorumlanmasında Örnek’in, Türk Halk Bilimi kitabında halk biliminin çalışma konularını sınıflandırdığı yirmi beş madde kullanılmıştır.Eyüboğlu’nun şiirlerinde köy, kasaba ve kent yaşamı; halk mimarisi; taşıtlar ve taşıma teknikleri; ekonomi türleri; halk ekonomisi; beslenme, mutfak, kiler; ölçme, tartma, hesaplama biçimleri; halk sanatları ve zanaatları; halk bilgisi; halk inançları, töreler, adetler, gelenek ve görenekler; geçiş d

  16. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  17. Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia

    DEFF Research Database (Denmark)

    Carrera, Noa; Arrojo, Manuel; Sanjuán, Julio

    2012-01-01

    Genome-wide association studies using several hundred thousand anonymous markers present limited statistical power. Alternatively, association studies restricted to common nonsynonymous single nucleotide polymorphisms (nsSNPs) have the advantage of strongly reducing the multiple testing problem, ...

  18. The Danish Association for Science and Technology Studies

    DEFF Research Database (Denmark)

    A presentation of the Danish Association for Science and Technology Studies (DASTS). Organization, experiences, challenges and future developments.......A presentation of the Danish Association for Science and Technology Studies (DASTS). Organization, experiences, challenges and future developments....

  19. Transitioning from Elementary to Secondary School: American Pupils' Scary Stories and Physical Education Folklore

    Science.gov (United States)

    Woodruff, Elizabeth A.; Curtner-Smith, Matthew D.

    2007-01-01

    The purpose of this study was to examine scary stories that young American adults recalled being told about physical education as they transferred from elementary school to secondary school. Participants were 70 undergraduate students. They were required to write about any scary stories concerning (a) secondary schooling in general, and (b)…

  20. The Magic of the Magic Kingdom: Folklore and Fan Culture in Disneyland

    OpenAIRE

    Giles, David

    2017-01-01

    As fandom studies are becoming more popular and important, one fandom yet remains largely unstudied: the fandom surrounding Disneyland. The Disneyland fandom is unique in a number of ways, chief among them the fans’ relationship to the content creators: unlike many other companies in similar positions, Disney seeks to put boundaries on fan participation and to discourage or stamp out behaviors it deems unacceptable. And yet, in spite of this official meddling, the fandom continues to thrive. ...

  1. Ethnobotanical survey of folklore plants used in treatment of snakebite in Paschim Medinipur district, West Bengal

    Institute of Scientific and Technical Information of China (English)

    Sumana Sarkhel

    2014-01-01

    Objective: To investigate and collect information from traditional health healers/tribal communities on the use of medicinal plants for treatment of snakebite. Methods:The ethno-medicinal study was conducted in 8 villages of the Paschim Medinipur district of West Bengal in 2012-2013 through questionnaire and personal interviews. Following the method of Martin, information about medicinal plants used in snake bite, precise plant parts used, methods of treatment and administration was enquired from the tribal communities (Santhals, Mundas, Lodhas, Bhumijs, Oraon Kherias) of the region. Results:The present study enumerates 20 ethnomedicinal plant species belonging to 16 families used by the tribal communities and medicinal healers of Paschim Medinipur district, West Bengal in treatment of snakebite. Each plant species has been listed alphabetically according to its botanical name, family, vernacular name, part(s) used, mode of preparation/administration. Conclusions:The importance of traditional medicinal system among the tribal communities of Paschim Medinipur district of West Bengal has been highlighted in the present study.

  2. Antimicrobial and anti-inflammatory activity of folklore: Mallotus peltatus leaf extract.

    Science.gov (United States)

    Chattopadhyay, Debprasad; Arunachalam, G; Mandal, Asit B; Sur, Tapas K; Mandal, Subash C; Bhattacharya, S K

    2002-10-01

    Since ages Mallotus peltatus (Geist) Muell. Arg. var acuminatus (Euphorbiaceae) leaf and stem bark is used in folk medicine to cure intestinal ailments and skin infections. In several intestinal ailments, localized inflammation is of common occurrence and hence we have evaluated the antimicrobial as well as anti-inflammatory activity of M. peltatus leaf extract. The crude methanol extract of M. peltatus leaves was found to be active against Staphylococcus aureus, Staphylococcus saprophyticus, Streptococcus faecalis, Bacillus subtilis, Escherichia coli and Proteus mirabilis and the dermatophytic fungi Microsporum gypseum. The minimum inhibitory concentration (MIC) ranges from 128 to 2000 microg ml(-1) for bacteria and 128 mg ml(-1) for fungi, while the minimum bactericidal concentration (MBC) was 2-4-fold higher than MIC. The methanol-water fraction of the extract showed similar activity against Staphylococcus, Streptococcus, Bacillus and Proteus isolates. The anti-inflammatory activity of the extract against carrageenan (acute model) and dextran-induced (subacute model) rat paw oedema and cotton pellet-induced granuloma (chronic model) in rats were studied using indomethacin (10 mg kg(-1)), a nonsteroid anti-inflammatory drug, as standard. The methanol extract at 200 and 400 mg kg(-1), and the n-butanol fractions A and B at 25 mg kg(-1), exhibited significant anti-inflammatory activity in Albino rats, compared with indomethacin. Phytochemical study revealed the presence of tannins, saponins, terpenoids, steroids and reducing sugars in the crude extract while the n-butanol fractions showed the presence of ursolic acid, beta-sitosterol and some fatty acids as major compounds. Further study with fractions showed that the antibacterial and anti-inflammatory activity is due to either fraction A (ursolic acid) alone or the combination of fractions A and B (beta-sitosterol and fatty acids) of the extract.

  3. Transfer of training and simulator qualification or myth and folklore in helicopter simulation

    Science.gov (United States)

    Dohme, Jack

    1992-01-01

    Transfer of training studies at Fort Rucker using the backward-transfer paradigm have shown that existing flight simulators are not entirely adequate for meeting training requirements. Using an ab initio training research simulator, a simulation of the UH-1, training effectiveness ratios were developed. The data demonstrate it to be a cost-effective primary trainer. A simulator qualification method was suggested in which a combination of these transfer-of-training paradigms is used to determine overall simulator fidelity and training effectiveness.

  4. Pharmacological evaluation and validation for the folkloric use of Oligochaeta ramose in constipation and diarrhea

    Directory of Open Access Journals (Sweden)

    Musaddique Hussain

    2014-12-01

    Full Text Available Crude extract of Oligochaeta ramose and its fractions were studied to rationalize its traditional use in GIT disturbance. In spontaneous contracting jejunum preparation, O. ramose (0.01-1.0 mg/mL caused a transient spasmogenic effect followed by the spasmolytic effect at higher doses (3.0-10.0 mg/mL. In atropinized jejunum preparation, O. ramose inhibit the spontaneous and K+ (80 mM-induced contraction at the similar doses (0.01-1.0 mg/mL, suggesting calcium channel blocking effect. The calcium channel blocking effect was confirmed when pretreatment of tissue with O. ramose produced a dose-dependent shift in Ca+2 dose- response curve to the right, similar to that produced by the verapamil. Activity-directed fractionation revealed that the spasmolytic effect is concentrated in the dichloromethane fraction while, aqueous fraction contains both spasmogenic and spasmolytic constituents. This study validate the presence of both spasmogenic and spasmolytic components mediated through muscarinic receptor activation and calcium channel blockade respectively, which may explain its traditional uses in constipation and diarrhea.

  5. A Candidate Gene Association Study of 77 Polymorphisms in Migraine

    OpenAIRE

    Schürks, Markus; Kurth, Tobias; Buring, Julie E.; Zee, Robert Y.L.

    2009-01-01

    Population-based studies have established an association between migraine and cardiovascular disease (CVD). We sought to investigate whether genetic variants implicated in CVD are associated with migraine. We performed an association study among 25,713 women, participating in the Women’s Health Study, with information on 77 previously characterized polymorphisms. Migraine and migraine aura status were self-reported. We used logistic regression to investigate the genotype-migraine association....

  6. MENELUSURI SEJARAH ASAL MULA BALIKPAPAN MELALUI PERAYAAN ERAU BALIK DELAPAN Sebuah Kajian Budaya dan Folklor

    Directory of Open Access Journals (Sweden)

    Ulum Janah

    2016-11-01

    Full Text Available The study on the origin of Balikpapan City through Erau Balik Delapan is factually encouraged by the cultural phenomenon along Melawai Beach. The cultural phenomenon happens there has not yet found before which has been a specific interest of the new-comers. It has been beleived that Balikapan City does not have its own culture, rather than imigrants’ ones. While Erau is originated from East Kalimantan which is celebrated in areas away from East Kalimnatan, but not in Balikpapan. This ceremony is coducted with the presence of the King, the Queen, and the Kingdom’s Advisor of Kutai, which is then beleived that there is a close relationship between Kutai Kingdom and Erau in Balikpapan. This research is attempted to bring about thorough explanation about the history of Balikpapan City under qualitataive research method. The data are drawn through participatory observation, in-depth interview and documentation. The data are validated by the time-triangulation technique. The result of the reserach shows the origin of Balikpapan through Erau Balik Delapan pertaining to the history, culture and legend which are still depply rooted in the community of Kutai.

  7. Detection of anti-tuberculosis activity in some folklore plants by radiometric BACTEC assay.

    Science.gov (United States)

    Gupta, V K; Shukla, C; Bisht, G R S; Saikia, D; Kumar, S; Thakur, R L

    2011-01-01

    The anti-tubercular drugs are less effective because of the emergence of multi-drug resistant (MDR) and extensively drug resistant (XDR) strains of M. tuberculosis, so plants being an alternative source of anti-microbial compounds. The aim of this study was to investigate anti-tuberculosis potential of the plants using Mycobacterium smegmatis as a rapid screening model for detection of anti-mycobacterial activity and further to evaluate the active plants for anti-tuberculosis activity against M. tuberculosis using radiometric BACTEC assay. The 15 plants were screened for anti-mycobacterial activity against M. smegmatis by the disk diffusion assay. The ethanolic extracts of Mallotus philippensis, Vitex negundo, Colebrookea oppositifolia, Rumex hastatus, Mimosa pudica, Kalanchoe integra and Flacourtia ramontchii were active against M. smegmatis in primary screening. The anti-tuberculosis potential was identified in the leaves extracts of Mallotus philippensis by radiometric BACTEC assay. The ethanolic extract of M. philippensis showed anti-tuberculosis activity against virulent and avirulent strains of M. tuberculosis H(37) Rv and M. tuberculosis H(37) Ra with minimum inhibitory concentration 0·25 and 0·125 mg ml(-1), respectively. The inhibition in growth index values of M. tuberculosis was observed in the presence of ethyl acetate fraction at a minimum concentration of 0·05 mg ml(-1). We found that BACTEC radiometric assay is a valuable method for detection of anti-tuberculosis activity of the plant extracts. The results indicate that ethanolic extract and ethyl acetate fraction of M. philippensis exhibited significant anti-mycobacterial activity against M. tuberculosis. These findings provide scientific evidence to support the traditional medicinal uses of M. philippensis and indicate a promising potential of this plant for the development of anti-tuberculosis agent. © 2010 The Authors. Letters in Applied Microbiology © 2010 The Society for Applied

  8. Sensitivity studies associated with dosimetry experiment interpretation

    Energy Technology Data Exchange (ETDEWEB)

    Bourganel, S.; Soldevila, M. [CEA/DANS/DM2S/SERMA, CEA Saclay, 91191, Gif sur Yvette (France); Ferrer, A.; Gregoire, G.; Destouches, C.; Beretz, D. [CEA/DEN-CAD/DER/SPEX, CEA Cadarache, F13108, Saint Paul lez Durance (France)

    2011-07-01

    Document available in abstract form only, full text of document follows: Interpretation of reactor dosimetry experiments with C/E comparison requires precise knowledge of parameters involved in modeling. Some parameters have more weight than others on the calculated values. So, sensitivity studies should be conducted to verify the importance of these parameters. The conclusions of these studies are used to refine the experiment modeling, or to correct uncertainty calculations. The results of these sensitivity studies allow a post-irradiation analysis, which can justify the discarding of some atypical C/M values. Derived uncertainties may be improved by the sensitivity analyses. Beyond classical parameters as geometry or composition, this paper describes some specific sensitivity studies conducted for dosimetry irradiation in reactor, and presents conclusions. These studies are based on dosimeters irradiated in the EOLE reactor facility at Cadarache CEA center. Conclusions drawn from these studies are generic and can be applied to any dosimetry study. Calculations performed for these studies were realized using TRIPOLI-4 Monte Carlo code. (authors)

  9. Chicano Studies: A Multidisciplinary Approach.

    Science.gov (United States)

    Garcia, Eugene E., Ed.; And Others

    One in a series on bilingual education, this book contains 15 chapters organized under the following subject headings: Chicano studies; Chicano history, social structure, and politics; literature and folklore; and education. Carlos Munoz, Jr., traces the history of Chicano studies and its impact on access to higher education. Albert Camarillo…

  10. Genome-wide association study of multiplex schizophrenia pedigrees

    DEFF Research Database (Denmark)

    Levinson, Douglas F; Shi, Jianxin; Wang, Kai

    2012-01-01

    The authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs).......The authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs)....

  11. Folklore in children's odontology.

    Science.gov (United States)

    Maroto, M R

    1998-03-01

    Popular customs with regard to tooth replacement are closely linked to magical ideas. The most important ones--such as throwing the tooth on the roof, giving it to mice or hiding it in different places--occur in places which are very far distant from one another, indicating that these customs originate from ancestral cultures.

  12. Into the Curriculum: Reading/Language Arts/Art: Using Amelia Bedelia Books to Teach Figurative and Literal Meanings [and] Reading/Language Arts/Mathematics: Create an Internet Pizza Cafe that Serves Pizza, Poetry, Technology, and More! [and] Reading/Language Arts: Finding Secret Words: Beginning Dictionary Skills [and] Science: What Big Teeth You Have! Alligators All Around [and] Science: Rube Goldberg and Simple Machines [and] Social Studies: Folklore--An Integrated Unit.

    Science.gov (United States)

    Wood, Eve; Maggi, Barbara Hall; Napier, Marion; Troisi, Andrea; Heiser, Pam; Rinehart, Sharon

    1998-01-01

    Provides six fully developed library media activities that are designed for use with specific curriculum units in reading and language arts, art, mathematics, science, and social studies. Library media skills, objectives, grade levels, instructional roles, evaluation, and follow-up are described for each activity. (LRW)

  13. CCNA Cisco Certified Network Associate Study Guide

    CERN Document Server

    Lammle, Todd

    2011-01-01

    Learn from the Best - Cisco Networking Authority Todd LammleWritten by Cisco networking authority Todd Lammle, this comprehensive guide has been completely updated to reflect the latest CCNA 640-802 exam. Todd's straightforward style provides lively examples, hands on and written labs, easy-to-understand analogies, and real-world scenarios that will not only help you prepare for the exam, but also give you a solid foundation as a Cisco networking professional.This Study Guide teaches you how toDescribe how a network worksConfigure, verify and troubleshoot a switch with VLANs and interswitch co

  14. Factors associated with pharmacy student interest in international study

    National Research Council Canada - National Science Library

    Owen, Chelsea; Breheny, Patrick; Ingram, Richard; Pfeifle, William; Cain, Jeff; Ryan, Melody

    2013-01-01

      To examine the interest of pharmacy students in international study, the demographic factors and involvement characteristics associated with that interest, and the perceived advantages and barriers...

  15. Cancer genetic association studies in the genome-wide age

    OpenAIRE

    Savage, Sharon A

    2008-01-01

    Genome-wide association studies of hundreds of thousands of SNPs have led to a deluge of studies of genetic variation in cancer and other common diseases. Large case–control and cohort studies have identified novel SNPs as markers of cancer risk. Genome-wide association study SNP data have also advanced understanding of population-specific genetic variation. While studies of risk profiles, combinations of SNPs that may increase cancer risk, are not yet clinically applicable, future, large-sca...

  16. The friends that game together: A folkloric expansion of textual poaching to genre farming for socialization in tabletop role-playing games

    Directory of Open Access Journals (Sweden)

    Michael Robert Underwood

    2009-03-01

    Full Text Available Tabletop role-playing games (RPGs are a folkloric form for creating and reaffirming community bonds and performing identity. Gaming is used to communicate and perform cultural capital and identity through fictional narratives, functioning as a form of community building and/or personal expression. With quotations from ethnographic research over the course of 2 years, including interviews with several groups of gamers and participant observation, I examine the ways that players create and affirm social bonds. I return to Michel De Certeau's idea of textual poaching, as adapted by Henry Jenkins, to contrast with it a new concept of genre farming. As both platform for and object of genre farming, RPGs allow players to display cultural competence, create and reaffirm social ties, and seek entertainment in a collaborative fashion.

  17. Pharmacognostical study and establishment of quality parameters of aerial parts of Costus speciosus-a well known tropical folklore medicine

    Institute of Scientific and Technical Information of China (English)

    Pradeep Singh; Ratan Lal Khosa; Shruti Srivastava; Garima Mishra; Keshri Kishor Jha; Sourabh Srivastava; Sangeeta; Ramesh Kumar Verma; Mohd Adil Tahseen

    2014-01-01

    Objective: To evaluate the diagnostic pharmacognostical characters of Costus speciosus (aerial parts) along with their physico-chemical parameters and fluorosence analysis.Method:microscopy, powder microscopy, leaf constant, fluorescence analysis and preliminary phytochemical investigation.Results:The findings of macroscopy revealed that leaves elliptic to oblong or oblong-lancoelate, The pharmacognostical characters were determined in terms of macroscopy, thick, spirally arranged, with stem clasping sheaths up to 4 cm, flowers large, white, cone-like terminal spikes, with bright red bracts. Transverse section of leaflet showed the presence of cuticularised epidermis with polygonal cells on adaxial surface and bluntly angled cells on abaxial surface of lamina, mesophyll cells differentiated in to single layered palisade cells on each surface and 2-3 layered spongy parenchyma, unicellular and uniseriate multicellular covering trichomes, paracytic stomata and vascular bundles surrounded by sclerenchymatous multicellular sheath. Preliminary phytochemical screening exhibited the presence of various phytochemical groups like alkaloids, glycosides, steroids, phenolic constituents. Further, the leaf constants, powder microscopy and fluorescence characteristics indicated outstanding results from this investigationConclusions:Various pharmacognostical and physico-chemical parameters have pivotal roles in identification, authentication and establishment of quality parameters of the species.

  18. Genome-wide association study identifies a common variant associated with risk of endometrial cancer

    OpenAIRE

    Amanda B Spurdle; Thompson, Deborah J.; Ahmed, Shahana; Ferguson, Kaltin; Healey, Catherine S; O’Mara, Tracy; Walker, Logan C.; Montgomery, Stephen B.; Dermitzakis, Emmanouil T.; Fahey, Paul; Montgomery, Grant,; Webb, Penelope M; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B.

    2011-01-01

    Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we undertook a genome-wide association study involving 1,265 endometrial cancer cases from Australia and the UK and 5,190 controls from the Wellcome Trust Case Control Consortium. Genotype frequencies in cases and controls were compared for 519,655 SNPs. Forty-seven SNPs that showed evidence of association with endometrial c...

  19. Genetic association studies in drug-induced liver injury.

    Science.gov (United States)

    Daly, Ann K; Day, Chris P

    2009-11-01

    Genetic studies on drug-induced liver injury (DILI) have proved challenging, both because of their rarity and their difficulty in replicating observed effects. However, significant progress has now been achieved by both candidate-gene and genome-wide association studies. These two approaches are considered in detail, together with examples of DILI due to specific drugs where consistent associations have been reported. Particular consideration is given to associations between antituberculosis drug-related liver injury and the "slow acetylator" genotype for N-acetyltransferase 2, amoxicillin/clavulanate-related liver injury, and the human leukocyte antigen (HLA) class II DRB1*1501 allele and flucloxacillin-related injury and the HLA class I B*5701 allele. Although these associations are drug-specific, the possibility that additional, more general susceptibility genes for DILI exist requires further investigation, ideally by genome-wide association studies involving international collaboration. The possibility of interethnic variation in susceptibility to DILI also requires further study.

  20. Small Sample Kernel Association Tests for Human Genetic and Microbiome Association Studies.

    Science.gov (United States)

    Chen, Jun; Chen, Wenan; Zhao, Ni; Wu, Michael C; Schaid, Daniel J

    2016-01-01

    Kernel machine based association tests (KAT) have been increasingly used in testing the association between an outcome and a set of biological measurements due to its power to combine multiple weak signals of complex relationship with the outcome through the specification of a relevant kernel. Human genetic and microbiome association studies are two important applications of KAT. However, the classic KAT framework relies on large sample theory, and conservativeness has been observed for small sample studies, especially for microbiome association studies. The common approach for addressing the small sample problem relies on computationally intensive resampling methods. Here, we derive an exact test for KAT with continuous traits, which resolve the small sample conservatism of KAT without the need for resampling. The exact test has significantly improved power to detect association for microbiome studies. For binary traits, we propose a similar approximate test, and we show that the approximate test is very powerful for a wide range of kernels including common variant- and microbiome-based kernels, and the approximate test controls the type I error well for these kernels. In contrast, the sequence kernel association tests have slightly inflated genomic inflation factors after small sample adjustment. Extensive simulations and application to a real microbiome association study are used to demonstrate the utility of our method. © 2015 WILEY PERIODICALS, INC.

  1. Novel Loci Associated with Usual Sleep Duration: The CHARGE Consortium Genome-Wide Association Study

    Science.gov (United States)

    Gottlieb, Daniel J.; Hek, Karin; Chen, Ting-hsu; Watson, Nathaniel F.; Eiriksdottir, Gudny; Byrne, Enda M.; Cornelis, Marilyn; Warby, Simon C.; Bandinelli, Stefania; Cherkas, Lynn; Evans, Daniel S.; Grabe, Hans J.; Lahti, Jari; Li, Man; Lehtimäki, Terho; Lumley, Thomas; Marciante, Kristin D.; Pérusse, Louis; Psaty, Bruce M.; Robbins, John; Tranah, Gregory J.; Vink, Jacqueline M.; Wilk, Jemma B.; Stafford, Jeanette M.; Bellis, Claire; Biffar, Reiner; Bouchard, Claude; Cade, Brian; Curhan, Gary C.; Eriksson, Johan G.; Ewert, Ralf; Ferrucci, Luigi; Fülöp, Tibor; Gehrman, Philip R.; Goodloe, Robert; Harris, Tamara B.; Heath, Andrew C.; Hernandez, Dena; Hofman, Albert; Hottenga, Jouke-Jan; Hunter, David J.; Jensen, Majken K.; Johnson, Andrew D.; Kähönen, Mika; Kao, Linda; Kraft, Peter; Larkin, Emma K.; Lauderdale, Diane S.; Luik, Annemarie I.; Medici, Marco; Montgomery, Grant W.; Palotie, Aarno; Patel, Sanjay R.; Pistis, Giorgio; Porcu, Eleonora; Quaye, Lydia; Raitakari, Olli; Redline, Susan; Rimm, Eric B.; Rotter, Jerome I.; Smith, Albert V.; Spector, Tim D.; Teumer, Alexander; Uitterlinden, André G.; Vohl, Marie-Claude; Widen, Elisabeth; Willemsen, Gonneke; Young, Terry; Zhang, Xiaoling; Liu, Yongmei; Blangero, John; Boomsma, Dorret I.; Gudnason, Vilmundur; Hu, Frank; Mangino, Massimo; Martin, Nicholas G.; O’Connor, George T.; Stone, Katie L.; Tanaka, Toshiko; Viikari, Jorma; Gharib, Sina A.; Punjabi, Naresh M.; Räikkönen, Katri; Völzke, Henry; Mignot, Emmanuel; Tiemeier, Henning

    2015-01-01

    Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study of usual sleep duration was conducted using 18 population-based cohorts totaling 47,180 individuals of European ancestry. Genome-wide significant association was identified at two loci. The strongest is located on chromosome 2, in an intergenic region 35–80 kb upstream from the thyroid-specific transcription factor PAX8 (lowest p=1.1 ×10−9). This finding was replicated in an African-American sample of 4771 individuals (lowest p=9.3 × 10−4). The strongest combined association was at rs1823125 (p=1.5 × 10−10, minor allele frequency 0.26 in the discovery sample, 0.12 in the replication sample), with each copy of the minor allele associated with a sleep duration 3.1 minutes longer per night. The alleles associated with longer sleep duration were associated in previous genome-wide association studies with a more favorable metabolic profile and a lower risk of attention deficit hyperactivity disorder. Understanding the mechanisms underlying these associations may help elucidate biological mechanisms influencing sleep duration and its association with psychiatric, metabolic and cardiovascular disease. PMID:25469926

  2. A hidden two-locus disease association pattern in genome-wide association studies

    Directory of Open Access Journals (Sweden)

    Xue Hong

    2011-05-01

    Full Text Available Abstract Background Recent association analyses in genome-wide association studies (GWAS mainly focus on single-locus association tests (marginal tests and two-locus interaction detections. These analysis methods have provided strong evidence of associations between genetics variances and complex diseases. However, there exists a type of association pattern, which often occurs within local regions in the genome and is unlikely to be detected by either marginal tests or interaction tests. This association pattern involves a group of correlated single-nucleotide polymorphisms (SNPs. The correlation among SNPs can lead to weak marginal effects and the interaction does not play a role in this association pattern. This phenomenon is due to the existence of unfaithfulness: the marginal effects of correlated SNPs do not express their significant joint effects faithfully due to the correlation cancelation. Results In this paper, we develop a computational method to detect this association pattern masked by unfaithfulness. We have applied our method to analyze seven data sets from the Wellcome Trust Case Control Consortium (WTCCC. The analysis for each data set takes about one week to finish the examination of all pairs of SNPs. Based on the empirical result of these real data, we show that this type of association masked by unfaithfulness widely exists in GWAS. Conclusions These newly identified associations enrich the discoveries of GWAS, which may provide new insights both in the analysis of tagSNPs and in the experiment design of GWAS. Since these associations may be easily missed by existing analysis tools, we can only connect some of them to publicly available findings from other association studies. As independent data set is limited at this moment, we also have difficulties to replicate these findings. More biological implications need further investigation. Availability The software is freely available at http://bioinformatics.ust.hk/hidden_pattern_finder.zip.

  3. Genome-Wide Association Study of Polymorphisms Predisposing to Bronchiolitis

    Science.gov (United States)

    Pasanen, Anu; Karjalainen, Minna K.; Bont, Louis; Piippo-Savolainen, Eija; Ruotsalainen, Marja; Goksör, Emma; Kumawat, Kuldeep; Hodemaekers, Hennie; Nuolivirta, Kirsi; Jartti, Tuomas; Wennergren, Göran; Hallman, Mikko; Rämet, Mika; Korppi, Matti

    2017-01-01

    Bronchiolitis is a major cause of hospitalization among infants. Severe bronchiolitis is associated with later asthma, suggesting a common genetic predisposition. Genetic background of bronchiolitis is not well characterized. To identify polymorphisms associated with bronchiolitis, we conducted a genome-wide association study (GWAS) in which 5,300,000 single nucleotide polymorphisms (SNPs) were tested for association in a Finnish–Swedish population of 217 children hospitalized for bronchiolitis and 778 controls. The most promising SNPs (n = 77) were genotyped in a Dutch replication population of 416 cases and 432 controls. Finally, we used a set of 202 Finnish bronchiolitis cases to further investigate candidate SNPs. We did not detect genome-wide significant associations, but several suggestive association signals (p bronchiolitis. These preliminary findings require further validation in a larger sample size. PMID:28139761

  4. Current approaches of genome-wide association studies

    Institute of Scientific and Technical Information of China (English)

    Jianfeng Xu

    2008-01-01

    @@ With rapid advances in high-throughput genotyping technology and the great increase in information available on SNPs throughout the genuine, genuine-wide association(GWA) studies have now become feasible.

  5. Genome-wide association study of clinical dimensions of schizophrenia

    DEFF Research Database (Denmark)

    Fanous, Ayman H; Zhou, Baiyu; Aggen, Steven H;

    2012-01-01

    Multiple sources of evidence suggest that genetic factors influence variation in clinical features of schizophrenia. The authors present the first genome-wide association study (GWAS) of dimensional symptom scores among individuals with schizophrenia....

  6. Association between erectile dysfunction and chronic periodontitis: A clinical study

    Directory of Open Access Journals (Sweden)

    Ranjit Singh Uppal

    2014-01-01

    Conclusion: It may be concluded that chronic periodontitis and ED are associated with each other. However, further large scale studies with confounder analysis and longitudinal follow-up are warranted to explore the link between these two diseases.

  7. From "Common Folklore ethnography" to "The Study Way of Folklore ethnography"%从"一般民俗志"到"作为研究方式的民俗志"

    Institute of Scientific and Technical Information of China (English)

    覃琮

    2009-01-01

    近年来,在借鉴人类学反思民族志理论思潮和成果影响下,民俗学界对民俗志的书写范式进行了积极的反思和探索,以摆脱民俗学的危机.但只有刘铁梁的.标志性文化统领式民俗志"理论与实践,彰显了与民族志的区别,具有特别的学理意义.民俗学学科的特点决定了民俗志需要作适当的层次划分.在民俗复兴的今天,我们应该让"一般民俗志"和"作为研究方式的民俗志"共生共荣,使民俗知识有更好的机会和渠道与社会契合,实现民俗学的大发展.

  8. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

    Science.gov (United States)

    Hancock, Dana B; Eijgelsheim, Mark; Wilk, Jemma B; Gharib, Sina A; Loehr, Laura R; Marciante, Kristin D; Franceschini, Nora; van Durme, Yannick M T A; Chen, Ting-Hsu; Barr, R Graham; Schabath, Matthew B; Couper, David J; Brusselle, Guy G; Psaty, Bruce M; van Duijn, Cornelia M; Rotter, Jerome I; Uitterlinden, André G; Hofman, Albert; Punjabi, Naresh M; Rivadeneira, Fernando; Morrison, Alanna C; Enright, Paul L; North, Kari E; Heckbert, Susan R; Lumley, Thomas; Stricker, Bruno H C; O'Connor, George T; London, Stephanie J

    2010-01-01

    Spirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV(1)) and its ratio to forced vital capacity (FEV(1)/FVC), an indicator of airflow obstruction. This meta-analysis included 20,890 participants of European ancestry from four CHARGE Consortium studies: Atherosclerosis Risk in Communities, Cardiovascular Health Study, Framingham Heart Study and Rotterdam Study. We identified eight loci associated with FEV(1)/FVC (HHIP, GPR126, ADAM19, AGER-PPT2, FAM13A, PTCH1, PID1 and HTR4) and one locus associated with FEV(1) (INTS12-GSTCD-NPNT) at or near genome-wide significance (P < 5 x 10(-8)) in the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease.

  9. Genome-wide association studies and contribution to cardiovascular physiology.

    Science.gov (United States)

    Munroe, Patricia B; Tinker, Andrew

    2015-09-01

    The study of family pedigrees with rare monogenic cardiovascular disorders has revealed new molecular players in physiological processes. Genome-wide association studies of complex traits with a heritable component may afford a similar and potentially intellectually richer opportunity. In this review we focus on the interpretation of genetic associations and the issue of causality in relation to known and potentially new physiology. We mainly discuss cardiometabolic traits as it reflects our personal interests, but the issues pertain broadly in many other disciplines. We also describe some of the resources that are now available that may expedite follow up of genetic association signals into observations on causal mechanisms and pathophysiology.

  10. Genetic association studies in lumbar disc degeneration: a systematic review.

    Directory of Open Access Journals (Sweden)

    Pasi J Eskola

    Full Text Available OBJECTIVE: Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI in humans. METHODS: A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines. RESULTS: Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat, COL11A1 (rs1676486, GDF5 (rs143383, SKT (rs16924573, THBS2 (rs9406328 and MMP9 (rs17576. CONCLUSIONS: Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.

  11. Genome-wide association study of serum selenium concentrations

    DEFF Research Database (Denmark)

    Gong, Jian; Hsu, Li; Harrison, Tabitha

    2013-01-01

    Selenium is an essential trace element and circulating selenium concentrations have been associated with a wide range of diseases. Candidate gene studies suggest that circulating selenium concentrations may be impacted by genetic variation; however, no study has comprehensively investigated...... this hypothesis. Therefore, we conducted a two-stage genome-wide association study to identify genetic variants associated with serum selenium concentrations in 1203 European descents from two cohorts: the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening and the Women’s Health Initiative (WHI). We...... tested association between 2,474,333 single nucleotide polymorphisms (SNPs) and serum selenium concentrations using linear regression models. In the first stage (PLCO) 41 SNPs clustered in 15 regions had p

  12. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    Science.gov (United States)

    Lanktree, Matthew B.; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T.; Bailey, Swneke D.; Onland-Moret, N. Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P.; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S.; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J.; M. Maloney, Cliona; Lobmeyer, Maximilian T.; Stanton, Alice; Zafarmand, M. Hadi; Romaine, Simon P.R.; Mehta, Amar; van Iperen, Erik P.A.; Gong, Yan; Price, Tom S.; Smith, Erin N.; Kim, Cecilia E.; Li, Yun R.; Asselbergs, Folkert W.; Atwood, Larry D.; Bailey, Kristian M.; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R.; Bhangale, Tushar; Boer, Jolanda M.A.; Boehm, Bernhard O.; Bradfield, Jonathan P.; Brown, Morris; Braund, Peter S.; Burton, Paul R.; Carty, Cara; Chandrupatla, Hareesh R.; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; Boer, Anthonius de; Drenos, Fotios; Elbers, Clara C.; Fang, James C.; Fox, Caroline S.; Frackelton, Edward C.; Fuchs, Barry; Furlong, Clement E.; Gibson, Quince; Gieger, Christian; Goel, Anuj; Grobbee, Diederik E.; Hastie, Claire; Howard, Philip J.; Huang, Guan-Hua; Johnson, W. Craig; Li, Qing; Kleber, Marcus E.; Klein, Barbara E.K.; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; LaCroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshall, Vanessa; Melander, Olle; Mentch, Frank D.; J. Meyer, Nuala; Monda, Keri L.; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondahl, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J.; Otieno, F. George; Patel, Sanjey R.; Putt, Mary E.; Rodriguez, Santiago; Safa, Radwan N.; Sawyer, Douglas B.; Schreiner, Pamela J.; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R.; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K.; Thomas, Kelly A.; Thorand, Barbara; Timpson, Nicholas J.; Tischfield, Sam; Tobin, Martin; Tomaszweski, Maciej; Verschuren, W.M. Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M.; Clarke, Robert; Balmforth, Anthony J.; Danesh, John; Day, Ian N.; Schork, Nicholas J.; de Bakker, Paul I.W.; Delles, Christian; Duggan, David; Hingorani, Aroon D.; Hirschhorn, Joel N.; Hofker, Marten H.; Humphries, Steve E.; Kivimaki, Mika; Lawlor, Debbie A.; Kottke-Marchant, Kandice; Mega, Jessica L.; Mitchell, Braxton D.; Morrow, David A.; Palmen, Jutta; Redline, Susan; Shields, Denis C.; Shuldiner, Alan R.; Sleiman, Patrick M.; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C.; Casas, Juan P.; Hall, Alistair S.; Doevendans, Pieter A.; D. Christie, Jason; Berenson, Gerald S.; Murray, Sarah S.; Illig, Thomas; Dorn, Gerald W.; Cappola, Thomas P.; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J.; Reilly, Muredach P.; Caulfield, Mark; Talmud, Philippa J.; Topol, Eric; Engert, James C.; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P.; Silverstein, Roy L.; Lange, Leslie A.; Sabatine, Marc S.; Trip, Mieke; Saleheen, Danish; Peden, John F.; Cruickshanks, Karen J.; März, Winfried; O'Connell, Jeffrey R.; Klungel, Olaf H.; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E.; Johnson, Julie A.; Jarvik, Gail P.; Papanicolaou, George J.; Grant, Struan F.A.; Munroe, Patricia B.; North, Kari E.; Samani, Nilesh J.; Koenig, Wolfgang; Gaunt, Tom R.; Anand, Sonia S.; van der Schouw, Yvonne T.; Soranzo, Nicole; FitzGerald, Garret A.; Reiner, Alex; Hegele, Robert A.; Hakonarson, Hakon; Keating, Brendan J.

    2011-01-01

    Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10−6), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10−8). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10−11). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait. PMID:21194676

  13. SNP CHARACTERISTICS PREDICT REPLICATION SUCCESS IN ASSOCIATION STUDIES

    Science.gov (United States)

    Gorlov, Ivan P.; Moore, Jason H.; Peng, Bo; Jin, Jennifer L.; Gorlova, Olga Y.; Amos, Christopher I.

    2014-01-01

    Successful independent replication is the most direct approach for distinguishing real genotype-disease associations from false discoveries in Genome Wide Association Studies (GWAS). Selecting SNPs for replication has been primarily based on p-values from the discovery stage, although additional characteristics of SNPs may be used to improve replication success. We used disease-associated SNPs from more than 2,000 published GWASs to identify predictors of SNP reproducibility. SNP reproducibility was defined as a proportion of successful replications among all replication attempts. The study reporting association for the first time was considered to be discovery and all consequent studies targeting the same phenotype replications. We found that −Log(P), where P is a p-value from the discovery study, is the strongest predictor of the SNP reproducibility. Other significant predictors include type of the SNP (e.g. missense vs intronic SNPs) and minor allele frequency. Features of the genes linked to the disease-associated SNP also predict SNP reproducibility. Based on empirically defined rules, we developed a reproducibility score (RS) to predict SNP reproducibility independently of −Log(P). We used data from two lung cancer GWAS studies as well as recently reported disease-associated SNPs to validate RS. Minus Log(P) outperforms RS when the very top SNPs are selected, while RS works better with relaxed selection criteria. In conclusion, we propose an empirical model to predict SNP reproducibility, which can be used to select SNPs for validation and prioritization. PMID:25273843

  14. Pediatric Ventilator-Associated Infections: The Ventilator-Associated INfection Study.

    Science.gov (United States)

    Willson, Douglas F; Hoot, Michelle; Khemani, Robinder; Carrol, Christopher; Kirby, Aileen; Schwarz, Adam; Gedeit, Rainer; Nett, Sholeen T; Erickson, Simon; Flori, Heidi; Hays, Spencer; Hall, Mark

    2017-01-01

    Suspected ventilator-associated infection is the most common reason for antibiotics in the PICU. We sought to characterize the clinical variables associated with continuing antibiotics after initial evaluation for suspected ventilator-associated infection and to determine whether clinical variables or antibiotic treatment influenced outcomes. Prospective, observational cohort study conducted in 47 PICUs in the United States, Canada, and Australia. Two hundred twenty-nine pediatric patients ventilated more than 48 hours undergoing respiratory secretion cultures were enrolled as "suspected ventilator-associated infection" in a prospective cohort study, those receiving antibiotics of less than or equal to 3 days were categorized as "evaluation only," and greater than 3 days as "treated." Demographics, diagnoses, comorbidities, culture results, and clinical data were compared between evaluation only and treated subjects and between subjects with positive versus negative cultures. PICUs in 47 hospitals in the United States, Canada, and Australia. All patients undergoing respiratory secretion cultures during the 6 study periods. None. Treated subjects differed from evaluation-only subjects only in frequency of positive cultures (79% vs 36%; p < 0.0001). Subjects with positive cultures were more likely to have chronic lung disease, tracheostomy, and shorter PICU stay, but there were no differences in ventilator days or mortality. Outcomes were similar in subjects with positive or negative cultures irrespective of antibiotic treatment. Immunocompromise and higher Pediatric Logistic Organ Dysfunction scores were the only variables associated with mortality in the overall population, but treated subjects with endotracheal tubes had significantly lower mortality. Positive respiratory cultures were the primary determinant of continued antibiotic treatment in children with suspected ventilator-associated infection. Positive cultures were not associated with worse outcomes

  15. Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

    Science.gov (United States)

    Wang, Kai; Zhang, Haitao; Kugathasan, Subra; Annese, Vito; Bradfield, Jonathan P.; Russell, Richard K.; Sleiman, Patrick M.A.; Imielinski, Marcin; Glessner, Joseph; Hou, Cuiping; Wilson, David C.; Walters, Thomas; Kim, Cecilia; Frackelton, Edward C.; Lionetti, Paolo; Barabino, Arrigo; Van Limbergen, Johan; Guthery, Stephen; Denson, Lee; Piccoli, David; Li, Mingyao; Dubinsky, Marla; Silverberg, Mark; Griffiths, Anne; Grant, Struan F.A.; Satsangi, Jack; Baldassano, Robert; Hakonarson, Hakon

    2009-01-01

    Previous genome-wide association (GWA) studies typically focus on single-locus analysis, which may not have the power to detect the majority of genuinely associated loci. Here, we applied pathway analysis using Affymetrix SNP genotype data from the Wellcome Trust Case Control Consortium (WTCCC) and uncovered significant association between Crohn Disease (CD) and the IL12/IL23 pathway, harboring 20 genes (p = 8 × 10−5). Interestingly, the pathway contains multiple genes (IL12B and JAK2) or homologs of genes (STAT3 and CCR6) that were recently identified as genuine susceptibility genes only through meta-analysis of several GWA studies. In addition, the pathway contains other susceptibility genes for CD, including IL18R1, JUN, IL12RB1, and TYK2, which do not reach genome-wide significance by single-marker association tests. The observed pathway-specific association signal was subsequently replicated in three additional GWA studies of European and African American ancestry generated on the Illumina HumanHap550 platform. Our study suggests that examination beyond individual SNP hits, by focusing on genetic networks and pathways, is important to unleashing the true power of GWA studies. PMID:19249008

  16. If only Derrida missed that flight... About the assessment of the "academic achievements" of the so-called "American Anthropology" by Belgrade Structural-semiotic School of Folklore

    Directory of Open Access Journals (Sweden)

    Miloš Milenković

    2016-02-01

    Full Text Available Taking into account recent critiques of "underdevelopment", "positivism", "methodological backwardness" and other failings attributed to socalled "American Anthropology" by some of the authors from the Belgrade Structural-semiotic School of Anthropology of Folklore, I analyse the context in which colleagues and students may be tempted to explain common sense political connection between polyphone ethnography, neo-romanticism and nationalism as counter-intuitive history of the discipline. I already pointed that the important transformative differences in the attitudes towards structuralism between European anthropologists, especially Belgrade Structural-semiotic School of Anthropology of Folklore and so called "American Anthropology", are the consequence of a pure coincidence – the fact that French structuralism and French poststructuralism were launched simultaneously at the American interdisciplinary intellectual scene ("Theory" at the same conference. This ironic concurrence would not be much more than one entertaining episode for students, historians of anthropology and historians of ideas, if there were no attempts (more and more frequent and increasingly fluently articulated to compare different intellectual traditions as they were elements of the same unilineal evolution of the discipline. Belgrade Structural-semiotic School (further called only SS and especially its spiritus movens and most prominent representative Prof. Kovačević started in recent years to criticise some "American Anthropology" measuring its academic "achievement" (the author’s term in comparative perspective and taking as an analytical unit uncritically generalized traditions marked with a single term of "postmodern anthropology" on the one hand, and "anthropology" on the other. Belgrade SS School did develop globally original, although badly promoted and never fully used, battery for the synchronic analysis of the folklore phenomena, but this was done only after

  17. Prediction of disease and phenotype associations from genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Stephanie N Lewis

    Full Text Available BACKGROUND: Genome wide association studies (GWAS have proven useful as a method for identifying genetic variations associated with diseases. In this study, we analyzed GWAS data for 61 diseases and phenotypes to elucidate common associations based on single nucleotide polymorphisms (SNP. The study was an expansion on a previous study on identifying disease associations via data from a single GWAS on seven diseases. METHODOLOGY/PRINCIPAL FINDINGS: Adjustments to the originally reported study included expansion of the SNP dataset using Linkage Disequilibrium (LD and refinement of the four levels of analysis to encompass SNP, SNP block, gene, and pathway level comparisons. A pair-wise comparison between diseases and phenotypes was performed at each level and the Jaccard similarity index was used to measure the degree of association between two diseases/phenotypes. Disease relatedness networks (DRNs were used to visualize our results. We saw predominant relatedness between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis for the first three levels of analysis. Expected relatedness was also seen between lipid- and blood-related traits. CONCLUSIONS/SIGNIFICANCE: The predominant associations between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis can be validated by clinical studies. The diseases have been proposed to share a systemic inflammation phenotype that can result in progression of additional diseases in patients with one of these three diseases. We also noticed unexpected relationships between metabolic and neurological diseases at the pathway comparison level. The less significant relationships found between diseases require a more detailed literature review to determine validity of the predictions. The results from this study serve as a first step towards a better understanding of seemingly unrelated diseases and phenotypes with similar symptoms or modes of treatment.

  18. Generalization of Rare Variant Association Tests for Longitudinal Family Studies.

    Science.gov (United States)

    Chien, Li-Chu; Hsu, Fang-Chi; Bowden, Donald W; Chiu, Yen-Feng

    2016-02-01

    Given the functional relevance of many rare variants, their identification is frequently critical for dissecting disease etiology. Functional variants are likely to be aggregated in family studies enriched with affected members, and this aggregation increases the statistical power to detect rare variants associated with a trait of interest. Longitudinal family studies provide additional information for identifying genetic and environmental factors associated with disease over time. However, methods to analyze rare variants in longitudinal family data remain fairly limited. These methods should be capable of accounting for different sources of correlations and handling large amounts of sequencing data efficiently. To identify rare variants associated with a phenotype in longitudinal family studies, we extended pedigree-based burden (BT) and kernel (KS) association tests to genetic longitudinal studies. Generalized estimating equation (GEE) approaches were used to generalize the pedigree-based BT and KS to multiple correlated phenotypes under the generalized linear model framework, adjusting for fixed effects of confounding factors. These tests accounted for complex correlations between repeated measures of the same phenotype (serial correlations) and between individuals in the same family (familial correlations). We conducted comprehensive simulation studies to compare the proposed tests with mixed-effects models and marginal models, using GEEs under various configurations. When the proposed tests were applied to data from the Diabetes Heart Study, we found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes.

  19. Allelic association studies of genome wide association data can reveal errors in marker position assignments

    Directory of Open Access Journals (Sweden)

    Curtis David

    2007-06-01

    Full Text Available Abstract Background Genome wide association (GWA studies provide the opportunity to develop new kinds of analysis. Analysing pairs of markers from separate regions might lead to the detection of allelic association which might indicate an interaction between nearby genes. Methods 396,591 markers typed in 541 subjects were studied. 7.8*1010 pairs of markers were screened and those showing initial evidence for allelic association were subjected to more thorough investigation along with 10 flanking markers on either side. Results No evidence was detected for interaction. However 6 markers appeared to have an incorrect map position according to NCBI Build 35. One of these was corrected in Build 36 and 2 were dropped. The remaining 3 were left with map positions inconsistent with their allelic association relationships. Discussion Although no interaction effects were detected the method was successful in identifying markers with probably incorrect map positions. Conclusion The study of allelic association can supplement other methods for assigning markers to particular map positions. Analyses of this type may usefully be applied to data from future GWA studies.

  20. Power analysis for genome-wide association studies

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    Klein Robert J

    2007-08-01

    Full Text Available Abstract Background Genome-wide association studies are a promising new tool for deciphering the genetics of complex diseases. To choose the proper sample size and genotyping platform for such studies, power calculations that take into account genetic model, tag SNP selection, and the population of interest are required. Results The power of genome-wide association studies can be computed using a set of tag SNPs and a large number of genotyped SNPs in a representative population, such as available through the HapMap project. As expected, power increases with increasing sample size and effect size. Power also depends on the tag SNPs selected. In some cases, more power is obtained by genotyping more individuals at fewer SNPs than fewer individuals at more SNPs. Conclusion Genome-wide association studies should be designed thoughtfully, with the choice of genotyping platform and sample size being determined from careful power calculations.

  1. A genome-wide association study of anorexia nervosa

    NARCIS (Netherlands)

    Boraska, V; Franklin, C S; Floyd, J A B; Thornton, L M; Huckins, L M; Southam, L; Rayner, N W; Tachmazidou, I; Klump, K L; Treasure, J; Lewis, C M; Schmidt, U; Tozzi, F; Kiezebrink, K; Hebebrand, J; Gorwood, P; Adan, R A H; Kas, M J H; Favaro, A; Santonastaso, P; Fernández-Aranda, F; Gratacos, M; Rybakowski, F; Dmitrzak-Weglarz, M; Kaprio, J; Keski-Rahkonen, A; Raevuori, A; Van Furth, E F; Slof-Op 't Landt, M C T; Hudson, J I; Reichborn-Kjennerud, T; Knudsen, G P S; Monteleone, P; Kaplan, A S; Karwautz, A; Hakonarson, H; Berrettini, W H; Guo, Y; Li, D; Schork, N J; Komaki, G; Ando, T; Inoko, H; Esko, T; Fischer, K; Männik, K; Metspalu, A; Baker, J H; Cone, R D; Dackor, J; DeSocio, J E; Hilliard, C E; O'Toole, J K; Pantel, J; Szatkiewicz, J P; Taico, C; Zerwas, S; Trace, S E; Davis, O S P; Helder, S; Bühren, K; Burghardt, R; de Zwaan, M; Egberts, K; Ehrlich, S; Herpertz-Dahlmann, B; Herzog, W; Imgart, H; Scherag, A; Scherag, S; Zipfel, S; Boni, C; Ramoz, N; Versini, A; Brandys, M K; Danner, U N; de Kovel, C; Hendriks, J; Koeleman, B P C; Ophoff, R A; Strengman, E; van Elburg, Annemarie; Bruson, A; Clementi, M; Degortes, D; Forzan, M; Tenconi, E; Docampo, E; Escaramís, G; Jiménez-Murcia, S; Lissowska, J; Rajewski, A; Szeszenia-Dabrowska, N; Slopien, A; Hauser, J; Karhunen, L; Meulenbelt, I; Slagboom, P E; Tortorella, A; Maj, M; Dedoussis, G; Dikeos, D; Gonidakis, F; Tziouvas, K; Tsitsika, A; Papezova, H; Slachtova, L; Martaskova, D; Kennedy, J L; Levitan, R D; Yilmaz, Z; Huemer, J; Koubek, D; Merl, E; Wagner, G; Lichtenstein, P; Breen, G; Cohen-Woods, S; Farmer, A; McGuffin, P; Cichon, S; Giegling, I; Herms, S; Rujescu, D; Schreiber, S; Wichmann, H-E; Dina, C; Sladek, R; Gambaro, G; Soranzo, N; Julia, A; Marsal, S; Rabionet, R; Gaborieau, V; Dick, D M; Palotie, A; Ripatti, S; Widén, E; Andreassen, O A; Espeseth, T; Lundervold, A; Reinvang, I; Steen, V M; Le Hellard, S; Mattingsdal, M; Ntalla, I; Bencko, V; Foretova, L; Janout, V; Navratilova, M; Gallinger, S; Pinto, D; Scherer, S W; Aschauer, H; Carlberg, L; Schosser, A; Alfredsson, L; Ding, B; Klareskog, L; Padyukov, L; Courtet, P; Guillaume, S; Jaussent, I; Finan, C; Kalsi, G; Roberts, M; Logan, D W; Peltonen, L; Ritchie, G R S; Barrett, J C; Estivill, X; Hinney, A; Sullivan, P F; Collier, D A; Zeggini, E; Bulik, C M

    2014-01-01

    Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countri

  2. Associations of heart failure with sleep quality: The rotterdam study

    NARCIS (Netherlands)

    L.A. Zuurbier (Lisette); A.I. Luik (Annemarie); M.J.G. Leening (Maarten); A. Hofman (Albert); R. Freak-Poli (Rosanne); O.H. Franco (Oscar); B.H. Stricker; H.W. Tiemeier (Henning)

    2015-01-01

    textabstractStudy Objectives: The prevalence of sleep disturbances and heart failure increases with age. We aimed to evaluate the associations of incident heart failure and cardiac dysfunction with changes in sleep quality. Methods: This prospective population-based study was conducted in the Rotter

  3. Genome-Wide Association Studies of the Human Gut Microbiota.

    Directory of Open Access Journals (Sweden)

    Emily R Davenport

    Full Text Available The bacterial composition of the human fecal microbiome is influenced by many lifestyle factors, notably diet. It is less clear, however, what role host genetics plays in dictating the composition of bacteria living in the gut. In this study, we examined the association of ~200K host genotypes with the relative abundance of fecal bacterial taxa in a founder population, the Hutterites, during two seasons (n = 91 summer, n = 93 winter, n = 57 individuals collected in both. These individuals live and eat communally, minimizing variation due to environmental exposures, including diet, which could potentially mask small genetic effects. Using a GWAS approach that takes into account the relatedness between subjects, we identified at least 8 bacterial taxa whose abundances were associated with single nucleotide polymorphisms in the host genome in each season (at genome-wide FDR of 20%. For example, we identified an association between a taxon known to affect obesity (genus Akkermansia and a variant near PLD1, a gene previously associated with body mass index. Moreover, we replicate a previously reported association from a quantitative trait locus (QTL mapping study of fecal microbiome abundance in mice (genus Lactococcus, rs3747113, P = 3.13 x 10-7. Finally, based on the significance distribution of the associated microbiome QTLs in our study with respect to chromatin accessibility profiles, we identified tissues in which host genetic variation may be acting to influence bacterial abundance in the gut.

  4. Sezai Karakoç'un Şiirlerinde Halk Bilimi Unsurları Folklore Elements in Sezai Karakoç's Poetry

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    Ayşe A.DİNÇ

    2013-07-01

    Full Text Available Sezai Karakoç has been one of the pioneer poets in Turkish poetrysince 1950’s. During his childhood and firt youth, he has been indifferent places of Anatolia and has grown up within a pure Anatolianculture until his university years.while living in Ergani, Maden, Dicle,Kahramanmaraş, Gaziantep and some other various cities and townsduring the years of his childhood and adolescence, he could haveopportunity to observe closely custosm and traditions of society.Therefore, it is impossible to think Karakoç’s poem as differentfrom people and their culture. His poems consist of traditions andcustoms of society in his poems that he witnessed in those cities.Hovewer, realıties of outer world in his poetry do not take place as theyare in reality, they rather change in the mind of poet and enter intopoetry as new images. Acording to Karakoç, picking and not changing areality belonging to outer world is the (0 zero point of art. He boils thereality in water and deadens it and then, so as to state the pointsasking attention, foreshadow some spots, place eternity signboard tothe background, show around our passion and breaths of our fate onthe face of the model. Abstracting is one of the basics of Karakoç’spoetry.But, those images entering into Karakoç’s poems do not only showthem as a whole within culture of society. Certainly, the matrix of hispoetry is resurrection and he has dealt competition of traditional lifeagainst modern life with resurrection issue. Reciting Sezai Karakoç’spoems in this context will make his poetry to understand easily.In this study, folklore elements which were found in SezaiKarakoç’s poems were classified and these elements were examined interms of usage types in poem and contextual world formed aroundinternal reality of poetry. Sezai Karakoç, 1950 sonrası Türk şiirinin öncü şairlerinden birisidir. Karakoç, çocukluğunu ve ilk gençliğini Anadolu’nun muhtelif yerlerinde geçirmiş ve

  5. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    Science.gov (United States)

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  6. Recommendations for using standardised phenotypes in genetic association studies

    Directory of Open Access Journals (Sweden)

    Naylor Melissa G

    2009-07-01

    Full Text Available Abstract Genetic association studies of complex traits often rely on standardised quantitative phenotypes, such as percentage of predicted forced expiratory volume and body mass index to measure an underlying trait of interest (eg lung function, obesity. These phenotypes are appealing because they provide an easy mechanism for comparing subjects, although such standardisations may not be the best way to control for confounders and other covariates. We recommend adjusting raw or standardised phenotypes within the study population via regression. We illustrate through simulation that optimal power in both population- and family-based association tests is attained by using the residuals from within-study adjustment as the complex trait phenotype. An application of family-based association analysis of forced expiratory volume in one second, and obesity in the Childhood Asthma Management Program data, illustrates that power is maintained or increased when adjusted phenotype residuals are used instead of typical standardised quantitative phenotypes.

  7. Planning and executing a genome wide association study (GWAS).

    Science.gov (United States)

    Sale, Michèle M; Mychaleckyj, Josyf C; Chen, Wei-Min

    2009-01-01

    In recent years, genome-wide association approaches have proven a powerful and successful strategy to identify genetic contributors to complex traits, including a number of endocrine disorders. Their success has meant that genome wide association studies (GWAS) are fast becoming the default study design for discovery of new genetic variants that influence a clinical trait or phenotype. This chapter focuses on a number of key elements that require consideration for the successful conduct of a GWAS. Although many of the considerations are common to any genetic study, the greater cost, extreme multiple testing, and greater openness to data sharing require specific awareness and planning by investigators. In the section on designing a GWAS, we reflect on ethical considerations, study design, selection of phenotype/s, power considerations, sample tracking and storage issues, and genotyping product selection. During execution, important considerations include DNA quantity and preparation, genotyping methods, quality control checks of genotype data, in silico genotyping (imputation), tests of association, and replication of association signals. Although the field of human genetics is rapidly evolving, recent experiences can help guide an investigator in making practical and methodological choices that will eventually determine the overall quality of GWAS results. Given the investment to recruit patient populations or cohorts that are powered for a GWAS, and the still substantial costs associated with genotyping, it is helpful to be aware of these aspects to maximize the likelihood of success, especially where there is an opportunity for implementing them prospectively.

  8. Genome-wide association study of circulating retinol levels.

    Science.gov (United States)

    Mondul, Alison M; Yu, Kai; Wheeler, William; Zhang, Hong; Weinstein, Stephanie J; Major, Jacqueline M; Cornelis, Marilyn C; Männistö, Satu; Hazra, Aditi; Hsing, Ann W; Jacobs, Kevin B; Eliassen, Heather; Tanaka, Toshiko; Reding, Douglas J; Hendrickson, Sara; Ferrucci, Luigi; Virtamo, Jarmo; Hunter, David J; Chanock, Stephen J; Kraft, Peter; Albanes, Demetrius

    2011-12-01

    Retinol is one of the most biologically active forms of vitamin A and is hypothesized to influence a wide range of human diseases including asthma, cardiovascular disease, infectious diseases and cancer. We conducted a genome-wide association study of 5006 Caucasian individuals drawn from two cohorts of men: the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study and the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial. We identified two independent single-nucleotide polymorphisms associated with circulating retinol levels, which are located near the transthyretin (TTR) and retinol binding protein 4 (RBP4) genes which encode major carrier proteins of retinol: rs1667255 (P =2.30× 10(-17)) and rs10882272 (P =6.04× 10(-12)). We replicated the association with rs10882272 in RBP4 in independent samples from the Nurses' Health Study and the Invecchiare in Chianti Study (InCHIANTI) that included 3792 women and 504 men (P =9.49× 10(-5)), but found no association for retinol with rs1667255 in TTR among women, thus suggesting evidence for gender dimorphism (P-interaction=1.31× 10(-5)). Discovery of common genetic variants associated with serum retinol levels may provide further insight into the contribution of retinol and other vitamin A compounds to the development of cancer and other complex diseases.

  9. Gene variants associated with ischemic stroke: the cardiovascular health study.

    Science.gov (United States)

    Luke, May M; O'Meara, Ellen S; Rowland, Charles M; Shiffman, Dov; Bare, Lance A; Arellano, Andre R; Longstreth, W T; Lumley, Thomas; Rice, Kenneth; Tracy, Russell P; Devlin, James J; Psaty, Bruce M

    2009-02-01

    The purpose of this study was to determine whether 74 single nucleotide polymorphisms (SNPs), which had been associated with coronary heart disease, are associated with incident ischemic stroke. Based on antecedent studies of coronary heart disease, we prespecified the risk allele for each of the 74 SNPs. We used Cox proportional hazards models that adjusted for traditional risk factors to estimate the associations of these SNPs with incident ischemic stroke during 14 years of follow-up in a population-based study of older adults: the Cardiovascular Health Study (CHS). In white CHS participants, the prespecified risk alleles of 7 of the 74 SNPs (in HPS1, ITGAE, ABCG2, MYH15, FSTL4, CALM1, and BAT2) were nominally associated with increased risk of stroke (one-sided PDMXL2, and ABCG2) were nominally associated with stroke (one-sided P<0.05, false discovery rate=0.55). The Val12Met SNP in ABCG2 was associated with stroke in both white (hazard ratio, 1.46; 90% CI, 1.05 to 2.03) and black (hazard ratio, 3.59; 90% CI, 1.11 to 11.6) participants of CHS. Kaplan-Meier estimates of the 10-year cumulative incidence of stroke were greater among Val allele homozygotes than among Met allele carriers in both white (10% versus 6%) and black (12% versus 3%) participants of CHS. The Val12Met SNP in ABCG2 (encoding a transporter of sterols and xenobiotics) was associated with incident ischemic stroke in white and black participants of CHS.

  10. Psychiatric disorders and obesity: A review of association studies

    Directory of Open Access Journals (Sweden)

    T M Rajan

    2017-01-01

    Full Text Available Background: Inconsistent evidence exists regarding the strength, direction, and moderators in the relationship between obesity and psychiatric disorders. Aim: This study aims to summarize the evidence on the association between psychiatric illness and obesity with particular attention to the strength and direction of association and also the possible moderators in each postulated link. Materials and Methods: Systematic electronic searches of MEDLINE through PubMed, ScienceDirect, PsycINFO, and Google Scholar were carried out from inception till October 2016. Generated abstracts were screened for eligibility to be included in the review. Study designs that evaluated the strength of relationship between obesity and psychiatric disorders were included in the study. Quality assessment of included studies was done using the Newcastle–Ottawa checklist tool. Results: From a total of 2424 search results, 21 eligible articles were identified and reviewed. These included studies on obesity and depression (n = 15, obesity and anxiety (four and one each on obesity and personality disorders, eating disorder (ED, attention deficit hyperactivity disorder, and alcohol use. Maximal evidence existed for the association between depression and obesity with longitudinal studies demonstrating a bidirectional link between the two conditions. The odds ratios (ORs were similar for developing depression in obesity (OR: 1.21–5.8 and vice versa (OR: 1.18–3.76 with a stronger association observed in women. For anxiety disorders, evidence was mostly cross-sectional, and associations were of modest magnitude (OR: 1.27–1.40. Among other disorders, obesity, and EDs appear to have a close link (OR: 4.5. Alcohol use appears to be a risk factor for obesity and not vice versa but only among women (OR: 3.84. Conclusion: Obesity and depression have a significant and bidirectional association. Evidence is modest for anxiety disorders and inadequate for other psychiatric

  11. Genome-Wide Association Study of Coronary Artery Disease

    Directory of Open Access Journals (Sweden)

    Naomi Ogawa

    2010-01-01

    Full Text Available Coronary artery disease (CAD is a multifactorial disease with environmental and genetic determinants. The genetic determinants of CAD have previously been explored by the candidate gene approach. Recently, the data from the International HapMap Project and the development of dense genotyping chips have enabled us to perform genome-wide association studies (GWAS on a large number of subjects without bias towards any particular candidate genes. In 2007, three chip-based GWAS simultaneously revealed the significant association between common variants on chromosome 9p21 and CAD. This association was replicated among other ethnic groups and also in a meta-analysis. Further investigations have detected several other candidate loci associated with CAD. The chip-based GWAS approach has identified novel and unbiased genetic determinants of CAD and these insights provide the important direction to better understand the pathogenesis of CAD and to develop new and improved preventive measures and treatments for CAD.

  12. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases.

    Science.gov (United States)

    Lee, Wen-Chung

    2016-06-09

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use.

  13. Genome-wide association study identifies 74 loci associated with educational attainment

    NARCIS (Netherlands)

    Okbay, Aysu; Beauchamp, Jonathan P.; Fontana, Mark Alan; Lee, James J.; Pers, Tune H.; Rietveld, Cornelius A.; Turley, Patrick; Chen, Guo-Bo; Emilsson, Valur; Meddens, S. Fleur W.; Oskarsson, Sven; Pickrell, Joseph K.; Thom, Kevin; Timshel, Pascal; de Vlaming, Ronald; Abdellaoui, Abdel; Ahluwalia, Tarunveer S.; Bacelis, Jonas; Baumbach, Clemens; Bjornsdottir, Gyda; Brandsma, Johannes H.; Concas, Maria Pina; Derringer, Jaime; Furlotte, Nicholas A.; Galesloot, Tessel E.; Girotto, Giorgia; Gupta, Richa; Hall, Leanne M.; Harris, Sarah E.; Hofer, Edith; Horikoshi, Momoko; Huffman, Jennifer E.; Kaasik, Kadri; Kalafati, Ioanna P.; Karlsson, Robert; Kong, Augustine; Lahti, Jari; van der Lee, Sven J.; de Leeuw, Christiaan; Lind, Penelope A.; Lindgren, Karl-Oskar; Liu, Tian; Mangino, Massimo; Marten, Jonathan; Mihailov, Evelin; Miller, Michael B.; van der Most, Peter J.; Oldmeadow, Christopher; Payton, Antony; Pervjakova, Natalia; Peyrot, Wouter J.; Qian, Yong; Raitakari, Olli; Rueedi, Rico; Salvi, Erika; Schmidt, Brge; Schraut, Katharina E.; Shi, Jianxin; Smith, Albert V.; Poot, Raymond A.; St Pourcain, Beate; Teumer, Alexander; Thorleifsson, Gudmar; Verweij, Niek; Vuckovic, Dragana; Wellmann, Juergen; Westra, Harm-Jan; Yang, Jingyun; Zhao, Wei; Zhu, Zhihong; Alizadeh, Behrooz Z.; Amin, Najaf; Bakshi, Andrew; Baumeister, Sebastian E.; Biino, Ginevra; Bonnelykke, Klaus; Boyle, Patricia A.; Campbell, Harry; Cappuccio, Francesco P.; Davies, Gail; De Neve, Jan-Emmanuel; Deloukas, Panos; Demuth, Ilja; Ding, Jun; Eibich, Peter; Eisele, Lewin; Eklund, Niina; Evans, David M.; Faul, Jessica D.; Feitosa, Mary F.; Forstner, Andreas J.; Gandin, Ilaria; Gunnarsson, Bjarni; Halldorsson, Bjarni V.; Harris, Tamara B.; Heath, Andrew C.; Hocking, Lynne J.; Holliday, Elizabeth G.; Homuth, Georg; Horan, Michael A.; Hottenga, Jouke-Jan; de Jager, Philip L.; Joshi, Peter K.; Jugessur, Astanand; Kaakinen, Marika A.; Kahonen, Mika; Kanoni, Stavroula; Keltigangas-Jarvinen, Liisa; Kiemeney, Lambertus A. L. M.; Kolcic, Ivana; Koskinen, Seppo; Kraja, Aldi T.; Kroh, Martin; Kutalik, Zoltan; Latvala, Antti; Launer, Lenore J.; Lebreton, Mael P.; Levinson, Douglas F.; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C. M.; Loukola, Anu; Madden, Pamela A.; Magi, Reedik; Maki-Opas, Tomi; Marioni, Riccardo E.; Marques-Vidal, Pedro; Meddens, Gerardus A.; McMahon, George; Meisinger, Christa; Meitinger, Thomas; Milaneschi, Yusplitri; Milani, Lili; Montgomery, Grant W.; Myhre, Ronny; Nelson, Christopher P.; Nyholt, Dale R.; Ollier, William E. R.; Palotie, Aarno; Paternoster, Lavinia; Pedersen, Nancy L.; Petrovic, Katja E.; Porteous, David J.; Raikkonen, Katri; Ring, Susan M.; Robino, Antonietta; Rostapshova, Olga; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sanders, Alan R.; Sarin, Antti-Pekka; Schmidt, Helena; Scott, Rodney J.; Smith, Blair H.; Smith, Jennifer A.; Staessen, Jan A.; Steinhagen-Thiessen, Elisabeth; Strauch, Konstantin; Terracciano, Antonio; Tobin, Martin D.; Ulivi, Sheila; Vaccargiu, Simona; Quaye, Lydia; van Rooij, Frank J. A.; Venturini, Cristina; Vinkhuyzen, Anna A. E.; Volker, Uwe; Volzke, Henry; Vonk, Judith M.; Waage, Johannes; Ware, Erin B.; Willemsen, Gonneke; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Bisgaard, Hans; Boomsma, Dorret I.; Borecki, Ingrid B.; Bultmann, Ute; Chabris, Christopher F.; Cucca, Francesco; Cusi, Daniele; Deary, Ian J.; Dedoussis, George V.; van Duijn, Cornelia M.; Eriksson, Johan G.; Franke, Barbara; Franke, Lude; Gasparini, Paolo; Gejman, Pablo V.; Gieger, Christian; Grabe, Hans-Jorgen; Gratten, Jacob; Groenen, Patrick J. F.; Gudnason, Vilmundur; van der Harst, Pim; Hayward, Caroline; Hinds, David A.; Hoffmann, Wolfgang; Hyppnen, Elina; Iacono, William G.; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Jockel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L. R.; Lehtimaki, Terho; Lehrer, Steven F.; Magnusson, Patrik K. E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Pendleton, Neil; Penninx, Brenda W. J. H.; Perola, Markus; Pirastu, Nicola; Pirastu, Mario; Polasek, Ozren; Posthuma, Danielle; Power, Christine; Province, Michael A.; Samani, Nilesh J.; Schlessinger, David; Schmidt, Reinhold; Sorensen, Thorkild I. A.; Spector, Tim D.; Stefansson, Kari; Thorsteinsdottir, Unnur; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Tung, Joyce Y.; Uitterlinden, Andre G.; Vitart, Veronique; Vollenweider, Peter; Weir, David R.; Wilson, James F.; Wright, Alan F.; Conley, Dalton C.; Krueger, Robert F.; Smith, George Davey; Hofman, Albert; Laibson, David I.; Medland, Sarah E.; Meyer, Michelle N.; Yang, Jian; Johannesson, Magnus; Visscher, Peter M.; Esko, Tonu; Koellinger, Philipp D.; Cesarini, David; Benjamin, Daniel J.

    2016-01-01

    Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends

  14. Genome-wide association study reveals regions associated with gestation length in two pig populations

    NARCIS (Netherlands)

    Hidalgo, A.M.; Lopes, M.S.; Harlizius, B.; Bastiaansen, J.W.M.

    2016-01-01

    Reproduction traits, such as gestation length (GLE), play an important role in dam line breeding in pigs. The objective of our study was to identify single nucleotide polymorphisms (SNPs) that are associated with GLE in two pig populations. Genotypes and deregressed breeding values were available

  15. Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study

    NARCIS (Netherlands)

    Gottlieb, D.J.; Hek, K.; Chen, T.H.; Watson, N.F.; Eiriksdottir, G.; Byrne, E.M.; Cornelis, M.; Warby, S.C.; Bandinelli, S.; Cherkas, L.; Evans, D.S.; Grabe, H.J.; Lahti, J.; Li, M.; Lehtimaki, T.; Lumley, T.; Marciante, K.D.; Pérusse, L.; Psaty, B.M.; Robbins, J.; Tranah, G.J.; Vink, J.M.; Wilk, J.B.; Stafford, J.M.; Bellis, C.; Biffar, R.; Bouchard, C.; Cade, B.; Curhan, G.C.; Eriksson, J.G.; Ewert, R.; Ferrucci, L.; Fulop, T.; Gehrman, P.R.; Goodloe, R.; Harris, T.B.; Heath, A.C.; Hernandez, D.G.; Hofman, A.; Hottenga, J.J.; Hunter, D.J.; Jensen, M.K.; Johnson, A.D.; Kahonen, M.; Kao, L.; Kraft, P.; Larkin, E.K.; Lauderdale, D.S.; Luik, A.I.; Medici, M.; Montgomery, G.W.; Palotie, A.; Patel, S.R.; Pistis, G.; Porcu, E.; Quaye, L.; Raitakari, O.; Redline, S.; Rimm, E.B.; Rotter, J.I.; Smith, A.V.; Spector, T.D.; Teumer, A.; Uitterlinden, A.G.; Vohl, M.C.; Widen, E.; Willemsen, G.; Young, T.; Zhang, X.; Liu, Y.; Blangero, J.; Boomsma, D.I.; Gudnason, V.; Hu, F.; Mangino, M.; Martin, N.G.; O'Connor, G.T.; Stone, K.L.; Tanaka, T.; Viikari, J.; Gharib, S.A.; Punjabi, N.M.; Raikkonen, K.; Völzke, H.; Mignot, E.; Tiemeier, H.

    2015-01-01

    Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 population-based

  16. Association study in eating disorders : TPH2 associates with anorexia nervosa and self-induced vomiting

    NARCIS (Netherlands)

    't Landt, M. C. T. Slof-Op; Meulenbelt, I.; Bartels, M.; Suchiman, E.; Middeldorp, C. M.; Houwing-Duistermaat, J. J.; van Trier, J.; Onkenhout, E. J.; Vink, J. M.; van Beijsterveldt, C. E. M.; Brandys, M. K.; Sanders, N.; Zipfel, S.; Herpertz-Dahlmann, B.; Klampfl, K.; Fleischhaker, C.; Zeeck, A.; de Zwaan, M.; Herpertz, S.; Ehrlich, S.; van Elburg, A. A.; Adan, R. A. H.; Scherag, S.; Hinney, A.; Hebebrand, J.; Boomsma, D. I.; van Furth, E. F.; Slagboom, P. E.; Herzog, W.

    2011-01-01

    Twin studies suggest that genetic factors play a substantial role in anorexia nervosa (AN) and self-induced vomiting (SV), a key symptom that is shared among different types of eating disorders (EDs). We investigated the association of 25 single nucleotide polymorphisms (SNPs), capturing 71-91% of t

  17. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function

    NARCIS (Netherlands)

    D.B. Hancock (Dana); M. Eijgelsheim (Mark); J.B. Wilk (Jemma); S.A. Gharib (Sina); L.R. Loehr (Laura); K. Marciante (Kristin); N. Franceschini (Nora); Y.M.T.A. van Durme; T.H. Chen; R.G. Barr (Graham); M.B. Schabath (Matthew); D.J. Couper (David); G.G. Brusselle (Guy); B.M. Psaty (Bruce); P. Tikka-Kleemola (Päivi); J.I. Rotter (Jerome); A.G. Uitterlinden (André); A. Hofman (Albert); N.M. Punjabi (Naresh); F. Rivadeneira Ramirez (Fernando); A.C. Morrison (Alanna); P.L. Enright (Paul); K.E. North (Kari); S.R. Heckbert (Susan); T. Lumley (Thomas); B.H.Ch. Stricker (Bruno); G.T. O'Connor (George); S.J. London (Stephanie)

    2010-01-01

    textabstractSpirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV1) and it

  18. Genome-wide association study identifies four loci associated with eruption of permanent teeth

    DEFF Research Database (Denmark)

    Geller, Frank; Feenstra, Bjarke; Zhang, Hao

    2011-01-01

    The sequence and timing of permanent tooth eruption is thought to be highly heritable and can have important implications for the risk of malocclusion, crowding, and periodontal disease. We conducted a genome-wide association study of number of permanent teeth erupted between age 6 and 14 years...

  19. Genome-wide association study identifies 74 loci associated with educational attainment

    NARCIS (Netherlands)

    Okbay, Aysu; Beauchamp, Jonathan P.; Fontana, Mark Alan; Lee, James J.; Pers, Tune H.; Rietveld, Cornelius A.; Turley, Patrick; Chen, Guo-Bo; Emilsson, Valur; Meddens, S. Fleur W.; Oskarsson, Sven; Pickrell, Joseph K.; Thom, Kevin; Timshel, Pascal; de Vlaming, Ronald; Abdellaoui, Abdel; Ahluwalia, Tarunveer S.; Bacelis, Jonas; Baumbach, Clemens; Bjornsdottir, Gyda; Brandsma, Johannes H.; Concas, Maria Pina; Derringer, Jaime; Furlotte, Nicholas A.; Galesloot, Tessel E.; Girotto, Giorgia; Gupta, Richa; Hall, Leanne M.; Harris, Sarah E.; Hofer, Edith; Horikoshi, Momoko; Huffman, Jennifer E.; Kaasik, Kadri; Kalafati, Ioanna P.; Karlsson, Robert; Kong, Augustine; Lahti, Jari; van der Lee, Sven J.; de Leeuw, Christiaan; Lind, Penelope A.; Lindgren, Karl-Oskar; Liu, Tian; Mangino, Massimo; Marten, Jonathan; Mihailov, Evelin; Miller, Michael B.; van der Most, Peter J.; Oldmeadow, Christopher; Payton, Antony; Pervjakova, Natalia; Peyrot, Wouter J.; Qian, Yong; Raitakari, Olli; Rueedi, Rico; Salvi, Erika; Schmidt, Brge; Schraut, Katharina E.; Shi, Jianxin; Smith, Albert V.; Poot, Raymond A.; St Pourcain, Beate; Teumer, Alexander; Thorleifsson, Gudmar; Verweij, Niek; Vuckovic, Dragana; Wellmann, Juergen; Westra, Harm-Jan; Yang, Jingyun; Zhao, Wei; Zhu, Zhihong; Alizadeh, Behrooz Z.; Amin, Najaf; Bakshi, Andrew; Baumeister, Sebastian E.; Biino, Ginevra; Bonnelykke, Klaus; Boyle, Patricia A.; Campbell, Harry; Cappuccio, Francesco P.; Davies, Gail; De Neve, Jan-Emmanuel; Deloukas, Panos; Demuth, Ilja; Ding, Jun; Eibich, Peter; Eisele, Lewin; Eklund, Niina; Evans, David M.; Faul, Jessica D.; Feitosa, Mary F.; Forstner, Andreas J.; Gandin, Ilaria; Gunnarsson, Bjarni; Halldorsson, Bjarni V.; Harris, Tamara B.; Heath, Andrew C.; Hocking, Lynne J.; Holliday, Elizabeth G.; Homuth, Georg; Horan, Michael A.; Hottenga, Jouke-Jan; de Jager, Philip L.; Joshi, Peter K.; Jugessur, Astanand; Kaakinen, Marika A.; Kahonen, Mika; Kanoni, Stavroula; Keltigangas-Jarvinen, Liisa; Kiemeney, Lambertus A. L. M.; Kolcic, Ivana; Koskinen, Seppo; Kraja, Aldi T.; Kroh, Martin; Kutalik, Zoltan; Latvala, Antti; Launer, Lenore J.; Lebreton, Mael P.; Levinson, Douglas F.; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C. M.; Loukola, Anu; Madden, Pamela A.; Magi, Reedik; Maki-Opas, Tomi; Marioni, Riccardo E.; Marques-Vidal, Pedro; Meddens, Gerardus A.; McMahon, George; Meisinger, Christa; Meitinger, Thomas; Milaneschi, Yusplitri; Milani, Lili; Montgomery, Grant W.; Myhre, Ronny; Nelson, Christopher P.; Nyholt, Dale R.; Ollier, William E. R.; Palotie, Aarno; Paternoster, Lavinia; Pedersen, Nancy L.; Petrovic, Katja E.; Porteous, David J.; Raikkonen, Katri; Ring, Susan M.; Robino, Antonietta; Rostapshova, Olga; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sanders, Alan R.; Sarin, Antti-Pekka; Schmidt, Helena; Scott, Rodney J.; Smith, Blair H.; Smith, Jennifer A.; Staessen, Jan A.; Steinhagen-Thiessen, Elisabeth; Strauch, Konstantin; Terracciano, Antonio; Tobin, Martin D.; Ulivi, Sheila; Vaccargiu, Simona; Quaye, Lydia; van Rooij, Frank J. A.; Venturini, Cristina; Vinkhuyzen, Anna A. E.; Volker, Uwe; Volzke, Henry; Vonk, Judith M.; Waage, Johannes; Ware, Erin B.; Willemsen, Gonneke; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Bisgaard, Hans; Boomsma, Dorret I.; Borecki, Ingrid B.; Bultmann, Ute; Chabris, Christopher F.; Cucca, Francesco; Cusi, Daniele; Deary, Ian J.; Dedoussis, George V.; van Duijn, Cornelia M.; Eriksson, Johan G.; Franke, Barbara; Franke, Lude; Gasparini, Paolo; Gejman, Pablo V.; Gieger, Christian; Grabe, Hans-Jorgen; Gratten, Jacob; Groenen, Patrick J. F.; Gudnason, Vilmundur; van der Harst, Pim; Hayward, Caroline; Hinds, David A.; Hoffmann, Wolfgang; Hyppnen, Elina; Iacono, William G.; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Jockel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L. R.; Lehtimaki, Terho; Lehrer, Steven F.; Magnusson, Patrik K. E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Pendleton, Neil; Penninx, Brenda W. J. H.; Perola, Markus; Pirastu, Nicola; Pirastu, Mario; Polasek, Ozren; Posthuma, Danielle; Power, Christine; Province, Michael A.; Samani, Nilesh J.; Schlessinger, David; Schmidt, Reinhold; Sorensen, Thorkild I. A.; Spector, Tim D.; Stefansson, Kari; Thorsteinsdottir, Unnur; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Tung, Joyce Y.; Uitterlinden, Andre G.; Vitart, Veronique; Vollenweider, Peter; Weir, David R.; Wilson, James F.; Wright, Alan F.; Conley, Dalton C.; Krueger, Robert F.; Smith, George Davey; Hofman, Albert; Laibson, David I.; Medland, Sarah E.

    2016-01-01

    Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends

  20. Genome-wide association study identifies 74 loci associated with educational attainment

    NARCIS (Netherlands)

    A. Okbay (Aysu); J.P. Beauchamp (Jonathan); Fontana, M.A. (Mark Alan); J.J. Lee (James J.); T.H. Pers (Tune); Rietveld, C.A. (Cornelius A.); P. Turley (Patrick); Chen, G.-B. (Guo-Bo); V. Emilsson (Valur); Meddens, S.F.W. (S. Fleur W.); Oskarsson, S. (Sven); Pickrell, J.K. (Joseph K.); Thom, K. (Kevin); Timshel, P. (Pascal); R. de Vlaming (Ronald); M. Abdellaoui (Mohammed); T.S. Ahluwalia (Tarunveer Singh); J. Bacelis (Jonas); C. Baumbach (Clemens); Bjornsdottir, G. (Gyda); J.H. Brandsma (Johan); Pina Concas, M. (Maria); J. Derringer; Furlotte, N.A. (Nicholas A.); T.E. Galesloot (Tessel); S. Girotto; Gupta, R. (Richa); L.M. Hall (Leanne M.); S.E. Harris (Sarah); E. Hofer; Horikoshi, M. (Momoko); J.E. Huffman (Jennifer E.); Kaasik, K. (Kadri); I.-P. Kalafati (Ioanna-Panagiota); R. Karlsson (Robert); A. Kong (Augustine); J. Lahti (Jari); S. van der Lee (Sven); Deleeuw, C. (Christiaan); P.A. Lind (Penelope); Lindgren, K.-O. (Karl-Oskar); Liu, T. (Tian); M. Mangino (Massimo); J. Marten (Jonathan); E. Mihailov (Evelin); M. Miller (Mike); P.J. van der Most (Peter); C. Oldmeadow (Christopher); A. Payton (Antony); N. Pervjakova (Natalia); W.J. Peyrot (Wouter ); Qian, Y. (Yong); O. Raitakari (Olli); Rueedi, R. (Rico); Salvi, E. (Erika); Schmidt, B. (Börge); Schraut, K.E. (Katharina E.); Shi, J. (Jianxin); A.V. Smith (Albert Vernon); R.A. Poot (Raymond); B. St Pourcain (Beate); A. Teumer (Alexander); G. Thorleifsson (Gudmar); N. Verweij (Niek); D. Vuckovic (Dragana); Wellmann, J. (Juergen); H.J. Westra (Harm-Jan); Yang, J. (Jingyun); Zhao, W. (Wei); Zhu, Z. (Zhihong); B.Z. Alizadeh (Behrooz); N. Amin (Najaf); Bakshi, A. (Andrew); S.E. Baumeister (Sebastian); G. Biino; K. Bønnelykke (Klaus); P.A. Boyle (Patricia); H. Campbell (Harry); Cappuccio, F.P. (Francesco P.); G. Davies (Gail); J.E. de Neve (Jan-Emmanuel); P. Deloukas (Panagiotis); I. Demuth (Ilja); Ding, J. (Jun); Eibich, P. (Peter); Eisele, L. (Lewin); N. Eklund (Niina); D.M. Evans (David); J.D. Faul (Jessica D.); M.F. Feitosa (Mary Furlan); A.J. Forstner; I. Gandin (Ilaria); Gunnarsson, B. (Bjarni); B.V. Halldorsson (Bjarni); T.B. Harris (Tamara); E.G. Holliday (Elizabeth); A.C. Heath (Andrew C.); L.J. Hocking; G. Homuth (Georg); M. Horan (Mike); J.J. Hottenga (Jouke Jan); P.L. de Jager (Philip); P.K. Joshi (Peter); A. Juqessur (Astanand); M. Kaakinen (Marika); M. Kähönen (Mika); S. Kanoni (Stavroula); Keltigangas-Järvinen, L. (Liisa); L.A.L.M. Kiemeney (Bart); I. Kolcic (Ivana); Koskinen, S. (Seppo); A. Kraja (Aldi); Kroh, M. (Martin); Z. Kutalik (Zoltán); A. Latvala (Antti); L.J. Launer (Lenore); Lebreton, M.P. (Maël P.); D.F. Levinson (Douglas F.); P. Lichtenstein (Paul); P. Lichtner (Peter); D.C. Liewald (David C.); A. Loukola (Anu); P.A. Madden (Pamela); R. Mägi (Reedik); Mäki-Opas, T. (Tomi); R.E. Marioni (Riccardo); P. Marques-Vidal; Meddens, G.A. (Gerardus A.); G. Mcmahon (George); C. Meisinger (Christa); T. Meitinger (Thomas); Milaneschi, Y. (Yusplitri); L. Milani (Lili); G.W. Montgomery (Grant); R. Myhre (Ronny); C.P. Nelson (Christopher P.); D.R. Nyholt (Dale); W.E.R. Ollier (William); A. Palotie (Aarno); L. Paternoster (Lavinia); N.L. Pedersen (Nancy); K. Petrovic (Katja); D.J. Porteous (David J.); K. Räikkönen (Katri); Ring, S.M. (Susan M.); A. Robino (Antonietta); O. Rostapshova (Olga); I. Rudan (Igor); A. Rustichini (Aldo); V. Salomaa (Veikko); Sanders, A.R. (Alan R.); A.-P. Sarin; R. Schmidt (Reinhold); R.J. Scott (Rodney); B.H. Smith (Blair); J.A. Smith (Jennifer A); J.A. Staessen (Jan); E. Steinhagen-Thiessen (Elisabeth); K. Strauch (Konstantin); A. Terracciano; M.D. Tobin (Martin); S. Ulivi (Shelia); S. Vaccargiu (Simona); L. Quaye (Lydia); F.J.A. van Rooij (Frank); C. Venturini (Cristina); A.A.E. Vinkhuyzen (Anna A.); U. Völker (Uwe); Völzke, H. (Henry); J.M. Vonk (Judith); D. Vozzi (Diego); J. Waage (Johannes); E.B. Ware (Erin B.); G.A.H.M. Willemsen (Gonneke); J. Attia (John); D.A. Bennett (David A.); Berger, K. (Klaus); L. Bertram (Lars); H. Bisgaard (Hans); D.I. Boomsma (Dorret); I.B. Borecki (Ingrid); U. Bültmann (Ute); C.F. Chabris (Christopher F.); F. Cucca (Francesco); D. Cusi (Daniele); I.J. Deary (Ian J.); G.V. Dedoussis (George); C.M. van Duijn (Cock); K. Hagen (Knut); B. Franke (Barbara); L. Franke (Lude); P. Gasparini (Paolo); P.V. Gejman (Pablo); C. Gieger (Christian); H.J. Grabe (Hans Jörgen); J. Gratten (Jacob); P.J.F. Groenen (Patrick); V. Gudnason (Vilmundur); P. van der Harst (Pim); C. Hayward (Caroline)

    2016-01-01

    textabstractEducational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that

  1. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function

    NARCIS (Netherlands)

    D.B. Hancock (Dana); M. Eijgelsheim (Mark); J.B. Wilk (Jemma); S.A. Gharib (Sina); L.R. Loehr (Laura); K. Marciante (Kristin); N. Franceschini (Nora); Y.M.T.A. van Durme; T.H. Chen; R.G. Barr (Graham); M.B. Schabath (Matthew); D.J. Couper (David); G.G. Brusselle (Guy); B.M. Psaty (Bruce); P. Tikka-Kleemola (Päivi); J.I. Rotter (Jerome); A.G. Uitterlinden (André); A. Hofman (Albert); N.M. Punjabi (Naresh); F. Rivadeneira Ramirez (Fernando); A.C. Morrison (Alanna); P.L. Enright (Paul); K.E. North (Kari); S.R. Heckbert (Susan); T. Lumley (Thomas); B.H.Ch. Stricker (Bruno); G.T. O'Connor (George); S.J. London (Stephanie)

    2010-01-01

    textabstractSpirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV1) and

  2. Association study in eating disorders : TPH2 associates with anorexia nervosa and self-induced vomiting

    NARCIS (Netherlands)

    't Landt, M. C. T. Slof-Op; Meulenbelt, I.; Bartels, M.; Suchiman, E.; Middeldorp, C. M.; Houwing-Duistermaat, J. J.; van Trier, J.; Onkenhout, E. J.; Vink, J. M.; van Beijsterveldt, C. E. M.; Brandys, M. K.; Sanders, N.; Zipfel, S.; Herpertz-Dahlmann, B.; Klampfl, K.; Fleischhaker, C.; Zeeck, A.; de Zwaan, M.; Herpertz, S.; Ehrlich, S.; van Elburg, A. A.; Adan, R. A. H.; Scherag, S.; Hinney, A.; Hebebrand, J.; Boomsma, D. I.; van Furth, E. F.; Slagboom, P. E.; Herzog, W.

    2011-01-01

    Twin studies suggest that genetic factors play a substantial role in anorexia nervosa (AN) and self-induced vomiting (SV), a key symptom that is shared among different types of eating disorders (EDs). We investigated the association of 25 single nucleotide polymorphisms (SNPs), capturing 71-91% of t

  3. Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study

    NARCIS (Netherlands)

    Gottlieb, D.J.; Hek, K.; Chen, T.H.; Watson, N.F.; Eiriksdottir, G.; Byrne, E.M.; Cornelis, M.; Warby, S.C.; Bandinelli, S.; Cherkas, L.; Evans, D.S.; Grabe, H.J.; Lahti, J.; Li, M.; Lehtimaki, T.; Lumley, T.; Marciante, K.D.; Pérusse, L.; Psaty, B.M.; Robbins, J.; Tranah, G.J.; Vink, J.M.; Wilk, J.B.; Stafford, J.M.; Bellis, C.; Biffar, R.; Bouchard, C.; Cade, B.; Curhan, G.C.; Eriksson, J.G.; Ewert, R.; Ferrucci, L.; Fulop, T.; Gehrman, P.R.; Goodloe, R.; Harris, T.B.; Heath, A.C.; Hernandez, D.G.; Hofman, A.; Hottenga, J.J.; Hunter, D.J.; Jensen, M.K.; Johnson, A.D.; Kahonen, M.; Kao, L.; Kraft, P.; Larkin, E.K.; Lauderdale, D.S.; Luik, A.I.; Medici, M.; Montgomery, G.W.; Palotie, A.; Patel, S.R.; Pistis, G.; Porcu, E.; Quaye, L.; Raitakari, O.; Redline, S.; Rimm, E.B.; Rotter, J.I.; Smith, A.V.; Spector, T.D.; Teumer, A.; Uitterlinden, A.G.; Vohl, M.C.; Widen, E.; Willemsen, G.; Young, T.; Zhang, X.; Liu, Y.; Blangero, J.; Boomsma, D.I.; Gudnason, V.; Hu, F.; Mangino, M.; Martin, N.G.; O'Connor, G.T.; Stone, K.L.; Tanaka, T.; Viikari, J.; Gharib, S.A.; Punjabi, N.M.; Raikkonen, K.; Völzke, H.; Mignot, E.; Tiemeier, H.

    2015-01-01

    Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 population-based c

  4. Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study

    NARCIS (Netherlands)

    D.J. Gottlieb (Daniel J); K. Hek (Karin); T.-H. Chen; N.F. Watson; G. Eiriksdottir (Gudny); E.M. Byrne; M. Cornelis (Marilyn); S.C. Warby; S. Bandinelli; L. Cherkas (Lynn); D.S. Evans (Daniel); H.J. Grabe (Hans Jörgen); J. Lahti (Jari); M. Li (Man); T. Lehtimäki (Terho); T. Lumley (Thomas); K. Marciante (Kristin); L. Perusse (Louis); B.M. Psaty (Bruce); J. Robbins; G.J. Tranah (Gregory); J.M. Vink; J.B. Wilk; J.M. Stafford; C. Bellis (Claire); R. Biffar; C. Bouchard (Claude); B. Cade; G.C. Curhan (Gary); J. Eriksson; R. Ewert; L. Ferrucci (Luigi); T. Fülöp; P.R. Gehrman (Philip); R. Goodloe (Robert); T.B. Harris (Tamara B.); A.C. Heath (Andrew C.); D.G. Hernandez (Dena); A. Hofman (Albert); J.J. Hottenga (Jouke Jan); D. Hunter (David); M.K. Jensen (Majken K.); A.D. Johnson (Andrew); M. Kähönen (Mika); W.H.L. Kao (Wen); P. Kraft (Peter); E.K. Larkin; D.S. Lauderdale; A.I. Luik (Annemarie I); M. Medici; G.W. Montgomery (Grant W.); A. Palotie; S.R. Patel (Sanjay); G. Pistis (Giorgio); E. Porcu; L. Quaye (Lydia); O. Raitakari (Olli); S. Redline (Susan); E.B. Rimm (Eric B.); J.I. Rotter; A.V. Smith; T.D. Spector (Timothy); A. Teumer (Alexander); A.G. Uitterlinden (André); M.-C. Vohl (Marie-Claude); E. Widen; G.A.H.M. Willemsen (Gonneke); T.L. Young (Terri L.); X. Zhang; Y. Liu; J. Blangero (John); D.I. Boomsma (Dorret); V. Gudnason (Vilmundur); F. Hu; M. Mangino; N.G. Martin (Nicholas); G.T. O'Connor (George); K.L. Stone (Katie L); T. Tanaka; J. Viikari (Jorma); S.A. Gharib (Sina); N.M. Punjabi (Naresh); K. Räikkönen (Katri); H. Völzke (Henry); E. Mignot; H.W. Tiemeier (Henning)

    2015-01-01

    textabstractUsual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 popula

  5. Genome-Wide Association Study of Meiotic Recombination Phenotypes

    Science.gov (United States)

    Begum, Ferdouse; Chowdhury, Reshmi; Cheung, Vivian G.; Sherman, Stephanie L.; Feingold, Eleanor

    2016-01-01

    Meiotic recombination is an essential step in gametogenesis, and is one that also generates genetic diversity. Genome-wide association studies (GWAS) and molecular studies have identified genes that influence of human meiotic recombination. RNF212 is associated with total or average number of recombination events, and PRDM9 is associated with the locations of hotspots, or sequences where crossing over appears to cluster. In addition, a common inversion on chromosome 17 is strongly associated with recombination. Other genes have been identified by GWAS, but those results have not been replicated. In this study, using new datasets, we characterized additional recombination phenotypes to uncover novel candidates and further dissect the role of already known loci. We used three datasets totaling 1562 two-generation families, including 3108 parents with 4304 children. We estimated five different recombination phenotypes including two novel phenotypes (average recombination counts within recombination hotspots and outside of hotspots) using dense SNP array genotype data. We then performed gender-specific and combined-sex genome-wide association studies (GWAS) meta-analyses. We replicated associations for several previously reported recombination genes, including RNF212 and PRDM9. By looking specifically at recombination events outside of hotspots, we showed for the first time that PRDM9 has different effects in males and females. We identified several new candidate loci, particularly for recombination events outside of hotspots. These include regions near the genes SPINK6, EVC2, ARHGAP25, and DLGAP2. This study expands our understanding of human meiotic recombination by characterizing additional features that vary across individuals, and identifying regulatory variants influencing the numbers and locations of recombination events. PMID:27733454

  6. Replication of genetic association studies in aortic stenosis in adults.

    Science.gov (United States)

    Gaudreault, Nathalie; Ducharme, Valérie; Lamontagne, Maxime; Guauque-Olarte, Sandra; Mathieu, Patrick; Pibarot, Philippe; Bossé, Yohan

    2011-11-01

    Only a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 > p > 6.2 × 10⁻¹¹). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10⁻¹¹). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.

  7. Susceptibility to Chronic Mucus Hypersecretion, a Genome Wide Association Study

    Science.gov (United States)

    Dijkstra, Akkelies E.; Smolonska, Joanna; van den Berge, Maarten; Wijmenga, Ciska; Zanen, Pieter; Luinge, Marjan A.; Platteel, Mathieu; Lammers, Jan-Willem; Dahlback, Magnus; Tosh, Kerrie; Hiemstra, Pieter S.; Sterk, Peter J.; Spira, Avi; Vestbo, Jorgen; Nordestgaard, Borge G.; Benn, Marianne; Nielsen, Sune F.; Dahl, Morten; Verschuren, W. Monique; Picavet, H. Susan J.; Smit, Henriette A.; Owsijewitsch, Michael; Kauczor, Hans U.; de Koning, Harry J.; Nizankowska-Mogilnicka, Eva; Mejza, Filip; Nastalek, Pawel; van Diemen, Cleo C.; Cho, Michael H.; Silverman, Edwin K.; Crapo, James D.; Beaty, Terri H.; Lomas, David A.; Bakke, Per; Gulsvik, Amund; Bossé, Yohan; Obeidat, M. A.; Loth, Daan W.; Lahousse, Lies; Rivadeneira, Fernando; Uitterlinden, Andre G.; Hofman, Andre; Stricker, Bruno H.; Brusselle, Guy G.; van Duijn, Cornelia M.; Brouwer, Uilke; Koppelman, Gerard H.; Vonk, Judith M.; Nawijn, Martijn C.; Groen, Harry J. M.; Timens, Wim; Boezen, H. Marike; Postma, Dirkje S.

    2014-01-01

    Background Chronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of smokers develops CMH. A plausible explanation for this phenomenon is a predisposing genetic constitution. Therefore, we performed a genome wide association (GWA) study of CMH in Caucasian populations. Methods GWA analysis was performed in the NELSON-study using the Illumina 610 array, followed by replication and meta-analysis in 11 additional cohorts. In total 2,704 subjects with, and 7,624 subjects without CMH were included, all current or former heavy smokers (≥20 pack-years). Additional studies were performed to test the functional relevance of the most significant single nucleotide polymorphism (SNP). Results A strong association with CMH, consistent across all cohorts, was observed with rs6577641 (p = 4.25×10−6, OR = 1.17), located in intron 9 of the special AT-rich sequence-binding protein 1 locus (SATB1) on chromosome 3. The risk allele (G) was associated with higher mRNA expression of SATB1 (4.3×10−9) in lung tissue. Presence of CMH was associated with increased SATB1 mRNA expression in bronchial biopsies from COPD patients. SATB1 expression was induced during differentiation of primary human bronchial epithelial cells in culture. Conclusions Our findings, that SNP rs6577641 is associated with CMH in multiple cohorts and is a cis-eQTL for SATB1, together with our additional observation that SATB1 expression increases during epithelial differentiation provide suggestive evidence that SATB1 is a gene that affects CMH. PMID:24714607

  8. Susceptibility to chronic mucus hypersecretion, a genome wide association study.

    Directory of Open Access Journals (Sweden)

    Akkelies E Dijkstra

    Full Text Available BACKGROUND: Chronic mucus hypersecretion (CMH is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of smokers develops CMH. A plausible explanation for this phenomenon is a predisposing genetic constitution. Therefore, we performed a genome wide association (GWA study of CMH in Caucasian populations. METHODS: GWA analysis was performed in the NELSON-study using the Illumina 610 array, followed by replication and meta-analysis in 11 additional cohorts. In total 2,704 subjects with, and 7,624 subjects without CMH were included, all current or former heavy smokers (≥20 pack-years. Additional studies were performed to test the functional relevance of the most significant single nucleotide polymorphism (SNP. RESULTS: A strong association with CMH, consistent across all cohorts, was observed with rs6577641 (p = 4.25×10(-6, OR = 1.17, located in intron 9 of the special AT-rich sequence-binding protein 1 locus (SATB1 on chromosome 3. The risk allele (G was associated with higher mRNA expression of SATB1 (4.3×10(-9 in lung tissue. Presence of CMH was associated with increased SATB1 mRNA expression in bronchial biopsies from COPD patients. SATB1 expression was induced during differentiation of primary human bronchial epithelial cells in culture. CONCLUSIONS: Our findings, that SNP rs6577641 is associated with CMH in multiple cohorts and is a cis-eQTL for SATB1, together with our additional observation that SATB1 expression increases during epithelial differentiation provide suggestive evidence that SATB1 is a gene that affects CMH.

  9. 药用植物与中国古代民生民俗%Medicinal Plants and People's Livelihood together with Folklore of Ancient China

    Institute of Scientific and Technical Information of China (English)

    游元元; 李羿; 钟世红; 李晨

    2011-01-01

    中国人的日常生活及传统文化与药用植物密切相关.对当前应试教育框架下缺乏文史知识营养的学生,在药用植物学课堂教学中着意掺入与日常生活相关的民生民俗、诗词歌赋及文史掌故等内容,不但能活跃课堂气氛、增强师生互动、增加记忆兴奋点,还能在潜移默化中提升学生人文素养,丰富精神世界.%Chinese daily life and traditional culture are closely relevant to medicinal plants. The people's livelihood, folklore, archaic poetry, idiom and literary quotation related to basic necessities of lives are affiliated with teaching process of Pharmaceutical Botany, which would make the class lively and interesting, enhance the teacher-student interaction and increase memory. The teaching method also promotes the students' humanity accomplishment in subtle influence that is lack of literature and history knowledge in exam-oriented education system.

  10. “Grid′ba in the Ship” and “Quail in the Forest”: A Reading of the Old Russian Folklore Text

    Directory of Open Access Journals (Sweden)

    Vladimir Ya. Petrukhin

    2015-08-01

    Full Text Available In her discussion of the Novgorod Sophia Chronicle, Tatiana V. Rozhdestvenskaya supposed that the folklore text in this source referring to “grid′ba in the ship” and “quail in the forest” is related to burial rites. The text, however, could also be connected with another “rite of passage”—a wedding ceremony, with the wedding retinue in the ship (as matchmakers and a pie in the stove (as a wedding dish; the quail in the forest seems to be a charm, sending the soul of the deceased female/bride in the guise of a quail to the forest, the world of the dead. Old Russian and Scandinavian parallels—for example, burial in a boat, Olga’s massacre of the Drevlian matchmakers (in the Russian Primary Chronicle, and the attempt described in an Icelandic saga involving the scalding of the bridegroom in the bath—seem to be essential for an interpretation of the text from the Sophia Chronicle. The charm could be intended to prevent the return of a ghost to the world of the living. The charm was perceived as blasphemous in the church, which is why it was crossed out by a pious “censor” and inscribed with the command to “let those hands wither.”

  11. Genome-wide association studies and resting heart rate

    DEFF Research Database (Denmark)

    Oskari Kilpeläinen, Tuomas

    2016-01-01

    Genome-wide association studies (GWASs) have revolutionized the search for genetic variants regulating resting heart rate. In the last 10 years, GWASs have led to the identification of at least 21 novel heart rate loci. These discoveries have provided valuable insights into the mechanisms...... and pathways that regulate heart rate and link heart rate to cardiovascular morbidity and mortality. GWASs capture majority of genetic variation in a population sample by utilizing high-throughput genotyping chips measuring genotypes for up to several millions of SNPs across the genome in thousands...... of individuals. This allows the identification of the strongest heart rate associated signals at genome-wide level. While GWASs provide robust statistical evidence of the association of a given genetic locus with heart rate, they are only the starting point for detailed follow-up studies to locate the causal...

  12. Genome-wide association study reveals regions associated with gestation length in two pig populations.

    Science.gov (United States)

    Hidalgo, A M; Lopes, M S; Harlizius, B; Bastiaansen, J W M

    2016-04-01

    Reproduction traits, such as gestation length (GLE), play an important role in dam line breeding in pigs. The objective of our study was to identify single nucleotide polymorphisms (SNPs) that are associated with GLE in two pig populations. Genotypes and deregressed breeding values were available for 2081 Dutch Landrace-based (DL) and 2301 Large White-based (LW) pigs. We identified two QTL regions for GLE, one in each population. For DL, three associated SNPs were detected in one QTL region spanning 0.52 Mbp on Sus scrofa chromosome (SSC) 2. For LW, four associated SNPs were detected in one region of 0.14 Mbp on SSC5. The region on SSC2 contains the heparin-binding EGF-like growth factor (HBEGF) gene, which promotes embryo implantation and has been described to be involved in embryo survival throughout gestation. The associated SNP can be used for marker-assisted selection in the studied populations, and further studies of the HBEGF gene are warranted to investigate its role in GLE.

  13. Genome-wide association study of relative telomere length.

    Science.gov (United States)

    Prescott, Jennifer; Kraft, Peter; Chasman, Daniel I; Savage, Sharon A; Mirabello, Lisa; Berndt, Sonja I; Weissfeld, Joel L; Han, Jiali; Hayes, Richard B; Chanock, Stephen J; Hunter, David J; De Vivo, Immaculata

    2011-05-10

    Telomere function is essential to maintaining the physical integrity of linear chromosomes and healthy human aging. The probability of forming proper telomere structures depends on the length of the telomeric DNA tract. We attempted to identify common genetic variants associated with log relative telomere length using genome-wide genotyping data on 3,554 individuals from the Nurses' Health Study and the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial that took part in the National Cancer Institute Cancer Genetic Markers of Susceptibility initiative for breast and prostate cancer. After genotyping 64 independent SNPs selected for replication in additional Nurses' Health Study and Women's Genome Health Study participants, we did not identify genome-wide significant loci; however, we replicated the inverse association of log relative telomere length with the minor allele variant [C] of rs16847897 at the TERC locus (per allele β = -0.03, P = 0.003) identified by a previous genome-wide association study. We did not find evidence for an association with variants at the OBFC1 locus or other loci reported to be associated with telomere length. With this sample size we had >80% power to detect β estimates as small as ±0.10 for SNPs with minor allele frequencies of ≥0.15 at genome-wide significance. However, power is greatly reduced for β estimates smaller than ±0.10, such as those for variants at the TERC locus. In general, common genetic variants associated with telomere length homeostasis have been difficult to detect. Potential biological and technical issues are discussed.

  14. Genome-wide association study of relative telomere length.

    Directory of Open Access Journals (Sweden)

    Jennifer Prescott

    Full Text Available Telomere function is essential to maintaining the physical integrity of linear chromosomes and healthy human aging. The probability of forming proper telomere structures depends on the length of the telomeric DNA tract. We attempted to identify common genetic variants associated with log relative telomere length using genome-wide genotyping data on 3,554 individuals from the Nurses' Health Study and the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial that took part in the National Cancer Institute Cancer Genetic Markers of Susceptibility initiative for breast and prostate cancer. After genotyping 64 independent SNPs selected for replication in additional Nurses' Health Study and Women's Genome Health Study participants, we did not identify genome-wide significant loci; however, we replicated the inverse association of log relative telomere length with the minor allele variant [C] of rs16847897 at the TERC locus (per allele β = -0.03, P = 0.003 identified by a previous genome-wide association study. We did not find evidence for an association with variants at the OBFC1 locus or other loci reported to be associated with telomere length. With this sample size we had >80% power to detect β estimates as small as ±0.10 for SNPs with minor allele frequencies of ≥0.15 at genome-wide significance. However, power is greatly reduced for β estimates smaller than ±0.10, such as those for variants at the TERC locus. In general, common genetic variants associated with telomere length homeostasis have been difficult to detect. Potential biological and technical issues are discussed.

  15. Genome-wide association studies in asthma: progress and pitfalls

    Directory of Open Access Journals (Sweden)

    March ME

    2015-01-01

    Full Text Available Michael E March,1 Patrick MA Sleiman,1,2 Hakon Hakonarson1,2 1Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, 2Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA Abstract: Genetic studies of asthma have revealed that there is considerable heritability to the phenotype. An extensive history of candidate-gene studies has identified a long list of genes associated with immune function that are potentially involved in asthma pathogenesis. However, many of the results of candidate-gene studies have failed to be replicated, leaving in question the true impact of the implicated biological pathways on asthma. With the advent of genome-wide association studies, geneticists are able to examine the association of hundreds of thousands of genetic markers with a phenotype, allowing the hypothesis-free identification of variants associated with disease. Many such studies examining asthma or related phenotypes have been published, and several themes have begun to emerge regarding the biological pathways underpinning asthma. The results of many genome-wide association studies have currently not been replicated, and the large sample sizes required for this experimental strategy invoke difficulties with sample stratification and phenotypic heterogeneity. Recently, large collaborative groups of researchers have formed consortia focused on asthma, with the goals of sharing material and data and standardizing diagnosis and experimental methods. Additionally, research has begun to focus on genetic variants that affect the response to asthma medications and on the biology that generates the heterogeneity in the asthma phenotype. As this work progresses, it will move asthma patients closer to more specific, personalized medicine. Keywords: asthma, genetics, GWAS, pharmacogenetics, biomarkers

  16. Clinical study on antibody-associated limbic encephalitis

    Directory of Open Access Journals (Sweden)

    WANG Jia-wei

    2013-01-01

    Full Text Available In recent years, the antibody-associated limbic encephalitis (LE has attracted attentions of more and more clinicians. The associated antibodies mainly act on neuronal cell surface antigens, including the N-methyl-D-aspartate (NMDA receptor, the α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA receptor, the γ-aminobutyric acid B (GABAB receptor, leucine-rich glioma-inactivated 1 (LGI1 and contactin-associated protein-like 2 (Caspr2 and so on. The clinical manifestation is primarily defined by the subacute onset of short-term memory loss, seizures, confusion and psychiatric symptoms suggesting the involvement of the limbic system. These severe and protracted disorders can affect children and young adults, occurring with or without tumor association. Routine detection of serum and cerebrospinal fluid (CSF and imaging tests show no specificity, but associated antibodies can be detected in serum and (or CSF. The patients respond well to tumor resection and immunotherapies, including corticosteroids, intravenous immunoglobulin (IVIg, plasma exchange or combination of them, but may relapse. This article aims to study the clinical features and treatment of antibody-associated limbic encephalitis and to improve the diagnosis and prognosis of these diseases.

  17. Genome-Wide Association Study of Serum Selenium Concentrations

    Directory of Open Access Journals (Sweden)

    Ulrike Peters

    2013-05-01

    Full Text Available Selenium is an essential trace element and circulating selenium concentrations have been associated with a wide range of diseases. Candidate gene studies suggest that circulating selenium concentrations may be impacted by genetic variation; however, no study has comprehensively investigated this hypothesis. Therefore, we conducted a two-stage genome-wide association study to identify genetic variants associated with serum selenium concentrations in 1203 European descents from two cohorts: the Prostate, Lung, Colorectal, and Ovarian (PLCO Cancer Screening and the Women’s Health Initiative (WHI. We tested association between 2,474,333 single nucleotide polymorphisms (SNPs and serum selenium concentrations using linear regression models. In the first stage (PLCO 41 SNPs clustered in 15 regions had p < 1 × 10−5. None of these 41 SNPs reached the significant threshold (p = 0.05/15 regions = 0.003 in the second stage (WHI. Three SNPs had p < 0.05 in the second stage (rs1395479 and rs1506807 in 4q34.3/AGA-NEIL3; and rs891684 in 17q24.3/SLC39A11 and had p between 2.62 × 10−7 and 4.04 × 10−7 in the combined analysis (PLCO + WHI. Additional studies are needed to replicate these findings. Identification of genetic variation that impacts selenium concentrations may contribute to a better understanding of which genes regulate circulating selenium concentrations.

  18. Genome-wide association studies (GWAS) of adiposity

    DEFF Research Database (Denmark)

    Oskari Kilpeläinen, Tuomas; Ingelsson, Erik

    2016-01-01

    and insulin resistance in the pathophysiology. The effect sizes of all identified loci are small, and even in aggregate, they explain ... of the new discoveries into clinical care remains a major challenge. As the first step, further studies are required to establish the causal genes and variants and to disentangle the exact physiological mechanisms underlying each genotype-phenotype association...

  19. Genome-wide association study identifies five new schizophrenia loci

    NARCIS (Netherlands)

    Ripke, Stephan; Sanders, Alan R.; Kendler, Kenneth S.; Levinson, Douglas F.; Sklar, Pamela; Holmans, Peter A.; Lin, Dan-Yu; Duan, Jubao; Ophoff, Roel A.; Andreassen, Ole A.; Scolnick, Edward; Cichon, Sven; Clair, David St.; Corvin, Aiden; Gurling, Hugh; Werge, Thomas; Rujescu, Dan; Blackwood, Douglas H. R.; Pato, Carlos N.; Malhotra, Anil K.; Purcell, Shaun; Dudbridge, Frank; Neale, Benjamin M.; Rossin, Lizzy; Visscher, Peter M.; Posthuma, Danielle; Ruderfer, Douglas M.; Fanous, Ayman; Stefansson, Hreinn; Steinberg, Stacy; Mowry, Bryan J.; Golimbet, Vera; De Hert, Marc; Jonsson, Erik G.; Bitter, Istvan; Pietilainen, Olli P. H.; Collier, David A.; Tosato, Sarah; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amdur, Richard L.; Amin, Farooq; Bass, Nicholas; Bergen, Sarah E.; Black, Donald W.; Borglum, Anders D.; Brown, Matthew A.; Bruggeman, Richard; Buccola, Nancy G.; Byerley, William F.; Cahn, Wiepke; Cantor, Rita M.; Carr, Vaughan J.; Catts, Stanley V.; Choudhury, Khalid; Cloninger, C. Robert; Cormican, Paul; Craddock, Nicholas; Danoy, Patrick A.; Datta, Susmita; De Haan, Lieuwe; Demontis, Ditte; Dikeos, Dimitris; Djurovic, Srdjan; Donnelly, Peter; Donohoe, Gary; Duong, Linh; Dwyer, Sarah; Fink-Jensen, Anders; Freedman, Robert; Freimer, Nelson B.; Friedl, Marion; Georgieva, Lyudmila; Giegling, Ina; Gill, Michael; Glenthoj, Birte; Godard, Stephanie; Hamshere, Marian; Hansen, Mark; Hansen, Thomas; Hartmann, Annette M.; Henskens, Frans A.; Hougaard, David M.; Hultman, Christina M.; Ingason, Andres; Jablensky, Assen V.; Jakobsen, Klaus D.; Jay, Maurice; Juergens, Gesche; Kahn, Renes; Keller, Matthew C.; Kenis, Gunter; Kenny, Elaine; Kim, Yunjung; Kirov, George K.; Konnerth, Heike; Konte, Bettina; Krabbendam, Lydia; Krasucki, Robert; Lasseter, Virginia K.; Laurent, Claudine; Lawrence, Jacob; Lencz, Todd; Lerer, F. Bernard; Liang, Kung-Yee; Lichtenstein, Paul; Lieberman, Jeffrey A.; Linszen, Don H.; Lonnqvist, Jouko; Loughland, Carmel M.; Maclean, Alan W.; Maher, Brion S.; Maier, Wolfgang; Mallet, Jacques; Malloy, Pat; Mattheisen, Manuel; Mattingsdal, Morten; McGhee, Kevin A.; McGrath, John J.; McIntosh, Andrew; McLean, Duncan E.; McQuillin, Andrew; Melle, Ingrid; Michie, Patricia T.; Milanova, Vihra; Morris, Derek W.; Mors, Ole; Mortensen, Preben B.; Moskvina, Valentina; Muglia, Pierandrea; Myin-Germeys, Inez; Nertney, Deborah A.; Nestadt, Gerald; Nielsen, Jimmi; Nikolov, Ivan; Nordentoft, Merete; Norton, Nadine; Noethen, Markus M.; O'Dushlaine, Colm T.; Olincy, Ann; Olsen, Line; O'Neill, F. Anthony; Orntoft, Torben F.; Owen, Michael J.; Pantelis, Christos; Papadimitriou, George; Pato, Michele T.; Peltonen, Leena; Petursson, Hannes; Pickard, Ben; Pimm, Jonathan; Pulver, Ann E.; Puri, Vinay; Quested, Digby; Quinn, Emma M.; Rasmussen, Henrik B.; Rethelyi, Janos M.; Ribble, Robert; Rietschel, Marcella; Riley, Brien P.; Ruggeri, Mirella; Schall, Ulrich; Schulze, Thomas G.; Schwab, Sibylle G.; Scott, Rodney J.; Shi, Jianxin; Sigurdsson, Engilbert; Silverman, Jeremy M.; Spencer, Chris C. A.; Stefansson, Kari; Strange, Amy; Strengman, Eric; Stroup, T. Scott; Suvisaari, Jaana; Terenius, Lars; Thirumalai, Srinivasa; Thygesen, Johan H.; Timm, Sally; Toncheva, Draga; van den Oord, Edwin; van Os, Jim; van Winkel, Ruud; Veldink, Jan; Walsh, Dermot; Wang, August G.; Wiersma, Durk; Wildenauer, Dieter B.; Williams, Hywel J.; Williams, Nigel M.; Wormley, Brandon; Zammit, Stan; Sullivan, Patrick F.; O'Donovan, Michael C.; Daly, Mark J.; Gejman, Pablo V.

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded

  20. Genome-wide association study identifies five new schizophrenia loci

    NARCIS (Netherlands)

    Ripke, Stephan; Sanders, Alan R.; Kendler, Kenneth S.; Levinson, Douglas F.; Sklar, Pamela; Holmans, Peter A.; Lin, Dan-Yu; Duan, Jubao; Ophoff, Roel A.; Andreassen, Ole A.; Scolnick, Edward; Cichon, Sven; Clair, David St.; Corvin, Aiden; Gurling, Hugh; Werge, Thomas; Rujescu, Dan; Blackwood, Douglas H. R.; Pato, Carlos N.; Malhotra, Anil K.; Purcell, Shaun; Dudbridge, Frank; Neale, Benjamin M.; Rossin, Lizzy; Visscher, Peter M.; Posthuma, Danielle; Ruderfer, Douglas M.; Fanous, Ayman; Stefansson, Hreinn; Steinberg, Stacy; Mowry, Bryan J.; Golimbet, Vera; De Hert, Marc; Jonsson, Erik G.; Bitter, Istvan; Pietilainen, Olli P. H.; Collier, David A.; Tosato, Sarah; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amdur, Richard L.; Amin, Farooq; Bass, Nicholas; Bergen, Sarah E.; Black, Donald W.; Borglum, Anders D.; Brown, Matthew A.; Bruggeman, Richard; Buccola, Nancy G.; Byerley, William F.; Cahn, Wiepke; Cantor, Rita M.; Carr, Vaughan J.; Catts, Stanley V.; Choudhury, Khalid; Cloninger, C. Robert; Cormican, Paul; Craddock, Nicholas; Danoy, Patrick A.; Datta, Susmita; De Haan, Lieuwe; Demontis, Ditte; Dikeos, Dimitris; Djurovic, Srdjan; Donnelly, Peter; Donohoe, Gary; Duong, Linh; Dwyer, Sarah; Fink-Jensen, Anders; Freedman, Robert; Freimer, Nelson B.; Friedl, Marion; Georgieva, Lyudmila; Giegling, Ina; Gill, Michael; Glenthoj, Birte; Godard, Stephanie; Hamshere, Marian; Hansen, Mark; Hansen, Thomas; Hartmann, Annette M.; Henskens, Frans A.; Hougaard, David M.; Hultman, Christina M.; Ingason, Andres; Jablensky, Assen V.; Jakobsen, Klaus D.; Jay, Maurice; Juergens, Gesche; Kahn, Renes; Keller, Matthew C.; Kenis, Gunter; Kenny, Elaine; Kim, Yunjung; Kirov, George K.; Konnerth, Heike; Konte, Bettina; Krabbendam, Lydia; Krasucki, Robert; Lasseter, Virginia K.; Laurent, Claudine; Lawrence, Jacob; Lencz, Todd; Lerer, F. Bernard; Liang, Kung-Yee; Lichtenstein, Paul; Lieberman, Jeffrey A.; Linszen, Don H.; Lonnqvist, Jouko; Loughland, Carmel M.; Maclean, Alan W.; Maher, Brion S.; Maier, Wolfgang; Mallet, Jacques; Malloy, Pat; Mattheisen, Manuel; Mattingsdal, Morten; McGhee, Kevin A.; McGrath, John J.; McIntosh, Andrew; McLean, Duncan E.; McQuillin, Andrew; Melle, Ingrid; Michie, Patricia T.; Milanova, Vihra; Morris, Derek W.; Mors, Ole; Mortensen, Preben B.; Moskvina, Valentina; Muglia, Pierandrea; Myin-Germeys, Inez; Nertney, Deborah A.; Nestadt, Gerald; Nielsen, Jimmi; Nikolov, Ivan; Nordentoft, Merete; Norton, Nadine; Noethen, Markus M.; O'Dushlaine, Colm T.; Olincy, Ann; Olsen, Line; O'Neill, F. Anthony; Orntoft, Torben F.; Owen, Michael J.; Pantelis, Christos; Papadimitriou, George; Pato, Michele T.; Peltonen, Leena; Petursson, Hannes; Pickard, Ben; Pimm, Jonathan; Pulver, Ann E.; Puri, Vinay; Quested, Digby; Quinn, Emma M.; Rasmussen, Henrik B.; Rethelyi, Janos M.; Ribble, Robert; Rietschel, Marcella; Riley, Brien P.; Ruggeri, Mirella; Schall, Ulrich; Schulze, Thomas G.; Schwab, Sibylle G.; Scott, Rodney J.; Shi, Jianxin; Sigurdsson, Engilbert; Silverman, Jeremy M.; Spencer, Chris C. A.; Stefansson, Kari; Strange, Amy; Strengman, Eric; Stroup, T. Scott; Suvisaari, Jaana; Terenius, Lars; Thirumalai, Srinivasa; Thygesen, Johan H.; Timm, Sally; Toncheva, Draga; van den Oord, Edwin; van Os, Jim; van Winkel, Ruud; Veldink, Jan; Walsh, Dermot; Wang, August G.; Wiersma, Durk; Wildenauer, Dieter B.; Williams, Hywel J.; Williams, Nigel M.; Wormley, Brandon; Zammit, Stan; Sullivan, Patrick F.; O'Donovan, Michael C.; Daly, Mark J.; Gejman, Pablo V.

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded

  1. Genome-wide association study identifies five new schizophrenia loci

    DEFF Research Database (Denmark)

    Ripke, Stephan; Sanders, Alan R; Kendler, Kenneth S

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yiel...

  2. Dental trauma in association with maxillofacial fractures: an epidemiological study

    NARCIS (Netherlands)

    Ruslin, M.; Wolff, J.; Boffano, P.; Brand, H.S.; Forouzanfar, T.

    2015-01-01

    Aim The aim of this study was to retrospectively investigate the incidence and associated factors of dental trauma in patients with maxillofacial fractures at the VU Medical Center in Amsterdam. Material and methods Data from 707 patients who were treated surgically for maxillofacial fractures were

  3. A study of type-1 diabetes associated autoantibodies in schizophrenia.

    Science.gov (United States)

    Hallford, Philomena; Clair, David St; Halley, Lorna; Mustard, Colette; Wei, Jun

    2016-10-01

    Epidemiological studies revealed an association between type-1 diabetes (T1D) and schizophrenia but the findings reported to date have been controversial. To clarify the inconsistency across studies, T1D-associated autoantibodies were examined in plasma samples collected from 272 patients with schizophrenia and 276 control subjects. An in-house enzyme-linked immunosorbent assay (ELISA) was developed using three linear peptide antigens, one of which was derived from glutamic acid decarboxylase (GAD) and two were derived from insulinoma-associated antigen 2 (IA2). Mann-Whitney U test showed a significant decrease in the levels of plasma IgG against the IA2b antigen in schizophrenia patients as compared to control subjects (Z=-3.54, p=0.0007), while no significant difference was found between these two groups either in anti-IA2a IgG levels (Z=-1.62, p=0.105) or in anti-GAD IgG levels (Z=-1.63, p=0.104). Linear regression analysis indicated no association of antipsychotic medication with the levels of plasma IgG against IA2a, IA2b or GAD, while the levels of plasma IgG for these 3 peptide antigens were significantly correlated with each other. Binary logistic regression showed that neither the DQ2.5 variant nor the DQ8 variant was associated with circulating levels of 3 T1D-associated autoantibodies in both the patient group and the control group. The coefficient of variation was 10.7% for anti-IA2a IgG assay, 10.1% for anti-IA2b IgG assay and 10.7% for anti-GAD IgG assay. The present work suggests that T1D-associated antibodies are unlikely to confer risk of schizophrenia and that the in-house ELISA developed with linear peptide antigens is highly reproducible.

  4. Genome-wide association studies in nephrology: using known associations for data checks.

    Science.gov (United States)

    Wuttke, Matthias; Schaefer, Franz; Wong, Craig S; Köttgen, Anna

    2015-02-01

    Prior to conducting genome-wide association studies (GWAS) of renal traits and diseases, systematic checks to ensure data integrity and analytical work flow should be conducted. Using positive controls (ie, known associations between a single-nucleotide polymorphism [SNP] and a corresponding trait) allows for identifying errors that are not apparent solely from global evaluation of summary statistics. Strong genetic control associations of chronic kidney disease (CKD), as derived from GWAS, are lacking in the non-African ancestry CKD population; thus, in this perspective, we provide examples of and considerations for using positive controls among patients with CKD. Using data from individuals with CKD who participated in the CRIC (Chronic Renal Insufficiency Cohort) Study or PediGFR (Pediatric Investigation for Genetic Factors Linked to Renal Progression) Consortium, we evaluated 2 kinds of positive control traits: traits unrelated to kidney function (bilirubin level and body height) and those related to kidney function (cystatin C and urate levels). For the former, the proportion of variance in the control trait that is explained by the control SNP is the main determinant of the strength of the observable association, irrespective of adjustment for kidney function. For the latter, adjustment for kidney function can be effective in uncovering known associations among patients with CKD. For instance, in 1,092 participants in the PediGFR Consortium, the P value for the association of cystatin C concentrations and rs911119 in the CST3 gene decreased from 2.7×10(-3) to 2.4×10(-8) upon adjustment for serum creatinine-based estimated glomerular filtration rate. In this perspective, we give recommendations for the appropriate selection of control traits and SNPs that can be used for data checks prior to conducting GWAS among patients with CKD.

  5. Genome-wide association study identifies three novel genetic markers associated with elite endurance performance

    Science.gov (United States)

    Kulemin, NA; Popov, DV; Naumov, VA; Akimov, EB; Bravy, YR; Egorova, ES; Galeeva, AA; Generozov, EV; Kostryukova, ES; Larin, AK; Mustafina, LJ; Ospanova, EA; Pavlenko, AV; Starnes, LM; Żmijewski, P; Alexeev, DG; Vinogradova, OL; Govorun, VM

    2014-01-01

    To investigate the association between multiple single-nucleotide polymorphisms (SNPs), aerobic performance and elite endurance athlete status in Russians. By using GWAS approach, we examined the association between 1,140,419 SNPs and relative maximal oxygen consumption rate (V.O2max) in 80 international-level Russian endurance athletes (46 males and 34 females). To validate obtained results, we further performed case-control studies by comparing the frequencies of the most significant SNPs (with P < 10−5-10−8) between 218 endurance athletes and opposite cohorts (192 Russian controls, 1367 European controls, and 230 Russian power athletes). Initially, six ‘endurance alleles’ were identified showing discrete associations with V.O2max both in males and females. Next, case-control studies resulted in remaining three SNPs (NFIA-AS2 rs1572312, TSHR rs7144481, RBFOX1 rs7191721) associated with endurance athlete status. The C allele of the most significant SNP, rs1572312, was associated with high values of V.O2max (males: P = 0.0051; females: P = 0.0005). Furthermore, the frequency of the rs1572312 C allele was significantly higher in elite endurance athletes (95.5%) in comparison with non-elite endurance athletes (89.8%, P = 0.0257), Russian (88.8%, P = 0.007) and European (90.6%, P = 0.0197) controls and power athletes (86.2%, P = 0.0005). The rs1572312 SNP is located on the nuclear factor I A antisense RNA 2 (NFIA-AS2) gene which is supposed to regulate the expression of the NFIA gene (encodes transcription factor involved in activation of erythropoiesis and repression of the granulopoiesis). Our data show that the NFIA-AS2 rs1572312, TSHR rs7144481 and RBFOX1 rs7191721 polymorphisms are associated with aerobic performance and elite endurance athlete status. PMID:25729143

  6. Armenian Studies for Secondary Students, A Curriculum Guide.

    Science.gov (United States)

    Stone, Frank A.

    The guide outlines a two to six week course of study on Armenian history and culture for secondary level students. The unit will help students develop an understanding of the following: culture of the American citizens of Armenian origin; key events and major trends in Armenian history; Armenian architecture, folklore, literature and music as…

  7. Genome-wide association studies in pediatric endocrinology.

    Science.gov (United States)

    Dauber, Andrew; Hirschhorn, Joel N

    2011-01-01

    Genome-wide association (GWA) studies are a powerful tool for understanding the genetic underpinnings of human disease. In this article, we briefly review the role and findings of GWA studies in type 1 diabetes, stature, pubertal timing, obesity, and vitamin D deficiency. We then discuss the present and future implications of these findings with regards to disease prediction, uncovering basic biology, and the development of novel therapeutic agents.

  8. Statistical Approaches in Genome-Wide Association Studies

    OpenAIRE

    Yazdani, Akram

    2014-01-01

    Genome-wide association studies, GWAS, typically contain hundreds of thousands single nucleotide polymorphisms, SNPs, genotyped for few numbers of samples. The aim of these studies is to identify regions harboring SNPs or to predict the outcomes of interest. Since the number of predictors in the GWAS far exceeds the number of samples, it is impossible to analyze the data with classical statistical methods. In the current GWAS, the widely applied methods are based on single marker analysis th...

  9. Ventilator associated pneumonia and transfusion, is there really an association? (the NAVTRA study

    Directory of Open Access Journals (Sweden)

    Gonzalez Marco

    2006-07-01

    Full Text Available Abstract Background Anemic syndrome is a frequent problem in intensive care units. The most probable etiology is the suppression of the erythropoietin response due to the direct effects of cytokines, as well as frequent blood sampling. Transfusions are not free of complications, therefore transfusion reactions are estimated to occur in 2% of the total packed red blood cells (pRBCs transfused. In the past several years, several trials had tried to compare the restrictive with the more liberal use of transfusions, and they were found to be equally effective. Nosocomial pneumonia is the most common nosocomial infection in intensive care units; the prevalence is 47% with an attributive mortality of 33%. There are multiple risk factors for the development of nosocomial pneumonia. Colonization of the upper airways is the most important pathophysiological factor but there are other factors implicated like, sedation techniques, inappropriate use of antibiotics and recumbent positioning. A secondary analysis of the CRIT study describes transfusion therapy and its practices in the United States. They found that transfusion practice is an independent risk factor for the development of nosocomial pneumonia. Methods This is a multicenter, prospective cohort study in different intensive care units in Colombia. A total of 474 patients were selected who had more than 48 hours of mechanical ventilation. The primary objective is to try to demonstrate the hypothetical relationship between the use of transfusions and nosocomial pneumonia. Secondly, we will try to determine which other factors are implicated in the development of pneumonia in intensive care units and describe the incidence of pneumonia and transfusion practices. Discussion Ventilator associated pneumonia is a primary problem in the intensive care unit, multiple factors have been associated with its presence in this study we try to explore the possible association between pneumonia and transfusion

  10. Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

    Science.gov (United States)

    Ramachandran, Dhanya; Zeng, Zhen; Locke, Adam E; Mulle, Jennifer G; Bean, Lora J H; Rosser, Tracie C; Dooley, Kenneth J; Cua, Clifford L; Capone, George T; Reeves, Roger H; Maslen, Cheryl L; Cutler, David J; Feingold, Eleanor; Sherman, Stephanie L; Zwick, Michael E

    2015-07-20

    The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the largest heart study conducted to date on a trisomic background by using a carefully characterized collection of individuals from extreme ends of the phenotypic spectrum. We performed a genome-wide association study using logistic regression analysis on 452 individuals with Down syndrome, consisting of 210 cases with complete atrioventricular septal defects and 242 controls with structurally normal hearts. No individual variant achieved genome-wide significance. We identified four disomic regions (1p36.3, 5p15.31, 8q22.3, and 17q22) and two trisomic regions on chromosome 21 (around PDXK and KCNJ6 genes) that merit further investigation in large replication studies. Our data show that a few common genetic variants of large effect size (odds ratio >2.0) do not account for the elevated risk of Down syndrome-associated atrioventricular septal defects. Instead, multiple variants of low-to-moderate effect sizes may contribute to this elevated risk, highlighting the complex genetic architecture of atrioventricular septal defects even in the highly susceptible Down syndrome population.

  11. Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos.

    Science.gov (United States)

    Sanders, A E; Sofer, T; Wong, Q; Kerr, K F; Agler, C; Shaffer, J R; Beck, J D; Offenbacher, S; Salazar, C R; North, K E; Marazita, M L; Laurie, C C; Singer, R H; Cai, J; Finlayson, T L; Divaris, K

    2017-01-01

    Chronic periodontitis (CP) has a genetic component, particularly its severe forms. Evidence from genome-wide association studies (GWASs) has highlighted several potential novel loci. Here, the authors report the first GWAS of CP among a large community-based sample of Hispanics/Latinos. The authors interrogated a quantitative trait of CP (mean interproximal clinical attachment level determined by full-mouth periodontal examinations) among 10,935 adult participants (mean age: 45 y, range: 18 to 76 y) from the Hispanic Community Health Study / Study of Latinos. Genotyping was done with a custom Illumina Omni2.5M array, and imputation to approximately 20 million single-nucleotide polymorphisms was based on the 1000 Genomes Project phase 1 reference panel. Analyses were based on linear mixed models adjusting for sex, age, study design features, ancestry, and kinship and employed a conventional P evidence of association ( P based sample of Hispanic/Latinos. It identified a genome-wide significant locus that was independently replicated in an African-American population. Identifying this genetic marker offers direction for interrogation in subsequent genomic and experimental studies of CP.

  12. From Genome-Wide Association Study to Phenome-Wide Association Study: New Paradigms in Obesity Research.

    Science.gov (United States)

    Zhang, Y-P; Zhang, Y-Y; Duan, D D

    2016-01-01

    Obesity is a condition in which excess body fat has accumulated over an extent that increases the risk of many chronic diseases. The current clinical classification of obesity is based on measurement of body mass index (BMI), waist-hip ratio, and body fat percentage. However, these measurements do not account for the wide individual variations in fat distribution, degree of fatness or health risks, and genetic variants identified in the genome-wide association studies (GWAS). In this review, we will address this important issue with the introduction of phenome, phenomics, and phenome-wide association study (PheWAS). We will discuss the new paradigm shift from GWAS to PheWAS in obesity research. In the era of precision medicine, phenomics and PheWAS provide the required approaches to better definition and classification of obesity according to the association of obese phenome with their unique molecular makeup, lifestyle, and environmental impact. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Disease-Concordant Twins Empower Genetic Association Studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...

  14. Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies

    Directory of Open Access Journals (Sweden)

    Qiong Yang

    2012-01-01

    Full Text Available Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical or different types of components (e.g., some are continuous and others are categorical. We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

  15. Genome-wide association studies in pediatric chronic kidney disease.

    Science.gov (United States)

    Gupta, Jayanta; Kanetsky, Peter A; Wuttke, Matthias; Köttgen, Anna; Schaefer, Franz; Wong, Craig S

    2016-08-01

    The genome-wide association study (GWAS) has become an established scientific method that provides an unbiased screen for genetic loci potentially associated with phenotypes of clinical interest, such as chronic kidney disease (CKD). Thus, GWAS provides opportunities to gain new perspectives regarding the genetic architecture of CKD progression by identifying new candidate genes and targets for intervention. As such, it has become an important arm of translational science providing a complementary line of investigation to identify novel therapeutics to treat CKD. In this review, we describe the method and the challenges of performing GWAS in the pediatric CKD population. We also provide an overview of successful GWAS for kidney disease, and we discuss the established pediatric CKD cohorts in North America and Europe that are poised to identify genetic risk variants associated with CKD progression.

  16. Study on multimers and their structures in molecular association mixture

    Institute of Scientific and Technical Information of China (English)

    NI Yi; DOU XiaoMing; ZHAO HaiYing; YIN GuangZhong; YAMAGUCHI Yoshinori; OZAKI Yukihiro

    2007-01-01

    Self-association system of (R)-1,3-butanediol in dilute carbon tetrachloride (CCl4) solution is studied as a model of molecular association mixture. Analysis methods including FSMWEFA (fixed-size moving window evolving factor analysis) combined with PCA (principal component analysis), SIMPLISMA (simple-to-use interactive self-modeling mixture analysis), and ITTFA (iterative target transformation factor analysis) are adopted to resolve infrared spectra of (R)-1,3-butanediol solution. Association number and equilibrium constant are computed. (R)-1,3-butanediol in dilute inert solution is determined as a monomer-trimer equilibrium system. Theoretical investigation of trimer structures is carried out with DFT (density functional theory), and structural factors are analyzed.

  17. Study on multimers and their structures in molecular association mixture

    Institute of Scientific and Technical Information of China (English)

    YAMAGUCHI; Yoshinori; OZAKI; Yukihiro

    2007-01-01

    Self-association system of(R)-1,3-butanediol in dilute carbon tetrachloride(CCl4)solution is studied as a model of molecular association mixture.Analysis methods including FSMWEFA(fixed-size moving window evolving factor analysis)combined with PCA(principal component analysis),SIMPLISMA (simple-to-use interactive self-modeling mixture analysis),and ITTFA(iterative target transformation factor analysis)are adopted to resolve infrared spectra of(R)-1,3-butanediol solution.Association number and equilibrium constant are computed.(R)-1,3-butanediol in dilute inert solution is determined as a monomer-trimer equilibrium system.Theoretical investigation of trimer structures is carried out with DFT(density functional theory),and structural factors are analyzed.

  18. Mevlana’nın Menkıbeleri Üzerine Folklorik Bir İnceleme A Folkloric Analysis on the Legends of Mevlana

    Directory of Open Access Journals (Sweden)

    Gülay KARAMAN

    2012-09-01

    Full Text Available behavior to be proud of. Its plural form menakıb for the first time in this meaning, is used in the corpus of hadith which had been written and compiled by IXth century to describe the virtues of prophet Muhammed and his companians. Furthermore, writings consist of the biography of historical personages, the description of works of worthies and even some of the holy cities are also called menakıb. While at the begining menakıbnames were created in order to describe high moral values of both the prophet Muhammed and his companians in later periods, the lives of some important men of sufism and religious orders were also added to this account. The first known example of Türkish menakıbname literature is Tezkire-i Satuk Buğra Han which is from Karahanlı period. Turkish menakıbname literature that begun with Tezkire-i Satuk Buğra Han, also continued to spread quickly among the Muslim Turks came to Anatolia and settled by migrations. Since the author is a member of his own society naturally his work will be a mirror to social, cultural, economical, political life of its century. For this reason, menakıbnames which tell the extraordinary life stories of saints are very important sources of information especially for history, culture, folklore and literature. After careful studies on the legends it can be possible to reach very rich source of information. In Türkiye, Fuad Köprülü is the first name with his work called as Türk Edebiyatında İlk Mutasavvıflar who pointed out using menakıbnames in scientific studies. In this study we want to call attention to Menâkıbu’l-Ârifîn which tells the legends of Mevlana and the other Mevlevi saints. Menâkıbu’l-Ârifîn is written by Mevlevi Ahmed Eflâkî in 14th century after the request of his sheik Ulu Arif Çelebi in Persian. This menakıbname has a certain place in Turkish history and culture since it gives first-hand information about Mevlana and the other Mevlevi saints. In this

  19. Liposomes- and ethosomes-associated distamycins: a comparative study.

    Science.gov (United States)

    Cortesi, Rita; Romagnoli, Romeo; Drechsler, Markus; Menegatti, Enea; Zaid, Abdel N; Ravani, Laura; Esposito, Elisabetta

    2010-12-01

    The present article describes a comparative study of the performances of liposomes and ethosomes as specialized delivery systems for distamycin A (DA) and two of its derivatives. Liposomes and ethosomes were prepared by classical methods, extruded through polycarbonate filters, and characterized in terms of dimensions, morphology, and encapsulation efficiency. It was found that DA was associated with vesicles (either liposomes or ethosomes) by around 16.0%, while both derivatives of DA showed a percentage of association around 80% in the case of liposomes and around 50% in the case of ethosomes. In vitro antiproliferative activity experiments performed on cultured human and mouse leukemic cells demonstrated that vesicles were able to increase the activity of both derivatives of DA. In addition, it was demonstrated that the aging of both liposomes- and ethosomes-associated distamycin suspensions did not heavily influence the vesicle size, while all samples showed a relevant drug leakage with time. Moreover, according to the different physicochemical characteristics of DA and its derivatives (i.e., log P), vesicle-associated DA showed the highest loss of drug with respect to both its derivatives. In conclusion, the enhancement of drug activity expressed by these specialized delivery systems-associated DD could be interesting to obtain an efficient therapeutic effect aimed at reducing or minimizing toxic effects occurring with distamycins administration.

  20. Genome-wide association study identifies four loci associated with eruption of permanent teeth.

    Directory of Open Access Journals (Sweden)

    Frank Geller

    2011-09-01

    Full Text Available The sequence and timing of permanent tooth eruption is thought to be highly heritable and can have important implications for the risk of malocclusion, crowding, and periodontal disease. We conducted a genome-wide association study of number of permanent teeth erupted between age 6 and 14 years, analyzed as age-adjusted standard deviation score averaged over multiple time points, based on childhood records for 5,104 women from the Danish National Birth Cohort. Four loci showed association at P<5×10(-8 and were replicated in four independent study groups from the United States and Denmark with a total of 3,762 individuals; all combined P-values were below 10(-11. Two loci agreed with previous findings in primary tooth eruption and were also known to influence height and breast cancer, respectively. The two other loci pointed to genomic regions without any previous significant genome-wide association study results. The intronic SNP rs7924176 in ADK could be linked to gene expression in monocytes. The combined effect of the four genetic variants was most pronounced between age 10 and 12 years, where children with 6 to 8 delayed tooth eruption alleles had on average 3.5 (95% confidence interval: 2.9-4.1 fewer permanent teeth than children with 0 or 1 of these alleles.

  1. Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat

    Science.gov (United States)

    Sung, Yun Ju; Pérusse, Louis; Sarzynski, Mark A.; Fornage, Myriam; Sidney, Steve; Sternfeld, Barbara; Rice, Treva; Terry, Gregg; Jacobs, David R.; Katzmarzyk, Peter; Curran, Joanne E; Carr, John Jeffrey; Blangero, John; Ghosh, Sujoy; Després, Jean-Pierre; Rankinen, Tuomo; Rao, D.C.; Bouchard, Claude

    2015-01-01

    Background To identify loci associated with abdominal fat and replicate prior findings, we performed genome-wide association (GWA) studies of abdominal fat traits: subcutaneous adipose tissue (SAT), visceral adipose tissue (VAT), total adipose tissue (TAT) and visceral to subcutaneous adipose tissue ratio (VSR). Subjects and Methods Sex-combined and sex-stratified analyses were performed on each trait with (TRAIT-BMI) or without (TRAIT) adjustment for BMI, and cohort-specific results were combined via a fixed effects meta-analysis. A total of 2,513 subjects of European descent were available for the discovery phase. For replication, 2,171 European Americans and 772 African Americans were available. Results A total of 52 SNPs encompassing 7 loci showed suggestive evidence of association (p < 1.0 × 10−6) with abdominal fat in the sex-combined analyses. The strongest evidence was found on chromosome 7p14.3 between a SNP near BBS9 gene and VAT (rs12374818; p= 1.10 × 10−7), an association that was replicated (p = 0.02). For the BMI-adjusted trait, the strongest evidence of association was found between a SNP near CYCSP30 and VAT-BMI (rs10506943; p= 2.42 × 10−7). Our sex-specific analyses identified one genome-wide significant (p < 5.0 × 10−8) locus for SAT in women with 11 SNPs encompassing the MLLT10, DNAJC1 and EBLN1 genes on chromosome 10p12.31 (p = 3.97 × 10−8 to 1.13 × 10−8). The THNSL2 gene previously associated with VAT in women was also replicated (p= 0.006). The six gene/loci showing the strongest evidence of association with VAT or VAT-BMI were interrogated for their functional links with obesity and inflammation using the Biograph knowledge-mining software. Genes showing the closest functional links with obesity and inflammation were ADCY8 and KCNK9, respectively. Conclusions Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2

  2. A study of associated congenital anomalies with biliary atresia

    Directory of Open Access Journals (Sweden)

    Lucky Gupta

    2016-01-01

    Full Text Available Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA, compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2% were diagnosed as having 58 anomalies. The majority of patients had presented in the 3 rd month of life; mean age was 81 ± 33 days (range = 20-150 days. There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9% had vascular anomalies, 13 patients (22.4% had hernias (umbilical-10, inguinal-3, 7 patients (12.1% had intestinal malrotation, 4 patients (6.8% had choledochal cyst, 1 patient (1.7% had Meckel′s diverticulum, 3 patients (5% had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1, 2 patients (3.4% had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4% had spleniculi, and 2 patients (3.4% were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a "generalized" insult during embryogenesis rather than a "localized" defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports.

  3. A whole-genome association study for pig reproductive traits.

    Science.gov (United States)

    Onteru, S K; Fan, B; Du, Z-Q; Garrick, D J; Stalder, K J; Rothschild, M F

    2012-02-01

    A whole-genome association study was performed for reproductive traits in commercial sows using the PorcineSNP60 BeadChip and Bayesian statistical methods. The traits included total number born (TNB), number born alive (NBA), number of stillborn (SB), number of mummified foetuses at birth (MUM) and gestation length (GL) in each of the first three parities. We report the associations of informative QTL and the genes within the QTL for each reproductive trait in different parities. These results provide evidence of gene effects having temporal impacts on reproductive traits in different parities. Many QTL identified in this study are new for pig reproductive traits. Around 48% of total genes located in the identified QTL regions were predicted to be involved in placental functions. The genomic regions containing genes important for foetal developmental (e.g. MEF2C) and uterine functions (e.g. PLSCR4) were associated with TNB and NBA in the first two parities. Similarly, QTL in other foetal developmental (e.g. HNRNPD and AHR) and placental (e.g. RELL1 and CD96) genes were associated with SB and MUM in different parities. The QTL with genes related to utero-placental blood flow (e.g. VEGFA) and hematopoiesis (e.g. MAFB) were associated with GL differences among sows in this population. Pathway analyses using genes within QTL identified some modest underlying biological pathways, which are interesting candidates (e.g. the nucleotide metabolism pathway for SB) for pig reproductive traits in different parities. Further validation studies on large populations are warranted to improve our understanding of the complex genetic architecture for pig reproductive traits.

  4. Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans

    Science.gov (United States)

    Adeyemo, Adebowale A.; Tekola-Ayele, Fasil; Doumatey, Ayo P.; Bentley, Amy R.; Chen, Guanjie; Huang, Hanxia; Zhou, Jie; Shriner, Daniel; Fasanmade, Olufemi; Okafor, Godfrey; Eghan, Benjamin; Agyenim-Boateng, Kofi; Adeleye, Jokotade; Balogun, Williams; Elkahloun, Abdel; Chandrasekharappa, Settara; Owusu, Samuel; Amoah, Albert; Acheampong, Joseph; Johnson, Thomas; Oli, Johnnie; Adebamowo, Clement; Collins, Francis; Dunston, Georgia; Rotimi, Charles N.

    2015-01-01

    Genome wide association studies (GWAS) for type 2 diabetes (T2D) undertaken in European and Asian ancestry populations have yielded dozens of robustly associated loci. However, the genomics of T2D remains largely understudied in sub-Saharan Africa (SSA), where rates of T2D are increasing dramatically and where the environmental background is quite different than in these previous studies. Here, we evaluate 106 reported T2D GWAS loci in continental Africans. We tested each of these SNPs, and SNPs in linkage disequilibrium (LD) with these index SNPs, for an association with T2D in order to assess transferability and to fine map the loci leveraging the generally reduced LD of African genomes. The study included 1775 unrelated Africans (1035 T2D cases, 740 controls; mean age 54 years; 59% female) enrolled in Nigeria, Ghana, and Kenya as part of the Africa America Diabetes Mellitus (AADM) study. All samples were genotyped on the Affymetrix Axiom PanAFR SNP array. Forty-one of the tested loci showed transferability to this African sample (p < 0.05, same direction of effect), 11 at the exact reported SNP and 30 others at SNPs in LD with the reported SNP (after adjustment for the number of tested SNPs). TCF7L2 SNP rs7903146 was the most significant locus in this study (p = 1.61 × 10−8). Most of the loci that showed transferability were successfully fine-mapped, i.e., localized to smaller haplotypes than in the original reports. The findings indicate that the genetic architecture of T2D in SSA is characterized by several risk loci shared with non-African ancestral populations and that data from African populations may facilitate fine mapping of risk loci. The study provides an important resource for meta-analysis of African ancestry populations and transferability of novel loci. PMID:26635871

  5. Multiple comparisons in genetic association studies: a hierarchical modeling approach.

    Science.gov (United States)

    Yi, Nengjun; Xu, Shizhong; Lou, Xiang-Yang; Mallick, Himel

    2014-02-01

    Multiple comparisons or multiple testing has been viewed as a thorny issue in genetic association studies aiming to detect disease-associated genetic variants from a large number of genotyped variants. We alleviate the problem of multiple comparisons by proposing a hierarchical modeling approach that is fundamentally different from the existing methods. The proposed hierarchical models simultaneously fit as many variables as possible and shrink unimportant effects towards zero. Thus, the hierarchical models yield more efficient estimates of parameters than the traditional methods that analyze genetic variants separately, and also coherently address the multiple comparisons problem due to largely reducing the effective number of genetic effects and the number of statistically "significant" effects. We develop a method for computing the effective number of genetic effects in hierarchical generalized linear models, and propose a new adjustment for multiple comparisons, the hierarchical Bonferroni correction, based on the effective number of genetic effects. Our approach not only increases the power to detect disease-associated variants but also controls the Type I error. We illustrate and evaluate our method with real and simulated data sets from genetic association studies. The method has been implemented in our freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/).

  6. Brain expression genome-wide association study (eGWAS identifies human disease-associated variants.

    Directory of Open Access Journals (Sweden)

    Fanggeng Zou

    Full Text Available Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n=197, temporal cortex n=202 and with other brain pathologies (non-AD, cerebellar n=177, temporal cortex n=197. We conducted an expression genome-wide association study (eGWAS using 213,528 cisSNPs within ± 100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs significant in both ADs and non-ADs (q<0.05, p=7.70 × 10(-5-1.67 × 10(-82. Of these, 2,089 were also significant in the temporal cortex (p=1.85 × 10(-5-1.70 × 10(-141. The top cerebellar cisSNPs had 2.4-fold enrichment for human disease-associated variants (p<10(-6. We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. In our eGWAS, there was 2.9-3.3 fold enrichment (p<10(-6 of significant cisSNPs with suggestive AD-risk association (p<10(-3 in the Alzheimer's Disease Genetics Consortium GWAS. These results demonstrate the significant contributions of genetic factors to human brain gene expression, which are reliably detected across different brain regions and pathologies. The significant enrichment of brain cisSNPs among disease-associated variants advocates gene expression changes as a mechanism for many central nervous system (CNS and non-CNS diseases. Combined assessment of expression and disease GWAS may provide complementary information in discovery of human disease variants with functional implications. Our findings

  7. Genome-wide association study identifies genetic loci associated with iron deficiency.

    Directory of Open Access Journals (Sweden)

    Christine E McLaren

    Full Text Available The existence of multiple inherited disorders of iron metabolism in man, rodents and other vertebrates suggests genetic contributions to iron deficiency. To identify new genomic locations associated with iron deficiency, a genome-wide association study (GWAS was performed using DNA collected from white men aged≥25 y and women≥50 y in the Hemochromatosis and Iron Overload Screening (HEIRS Study with serum ferritin (SF≤12 µg/L (cases and iron replete controls (SF>100 µg/L in men, SF>50 µg/L in women. Regression analysis was used to examine the association between case-control status (336 cases, 343 controls and quantitative serum iron measures and 331,060 single nucleotide polymorphism (SNP genotypes, with replication analyses performed in a sample of 71 cases and 161 controls from a population of white male and female veterans screened at a US Veterans Affairs (VA medical center. Five SNPs identified in the GWAS met genome-wide statistical significance for association with at least one iron measure, rs2698530 on chr. 2p14; rs3811647 on chr. 3q22, a known SNP in the transferrin (TF gene region; rs1800562 on chr. 6p22, the C282Y mutation in the HFE gene; rs7787204 on chr. 7p21; and rs987710 on chr. 22q11 (GWAS observed P<1.51×10(-7 for all. An association between total iron binding capacity and SNP rs3811647 in the TF gene (GWAS observed P=7.0×10(-9, corrected P=0.012 was replicated within the VA samples (observed P=0.012. Associations with the C282Y mutation in the HFE gene also were replicated. The joint analysis of the HEIRS and VA samples revealed strong associations between rs2698530 on chr. 2p14 and iron status outcomes. These results confirm a previously-described TF polymorphism and implicate one potential new locus as a target for gene identification.

  8. [Factors associated with contacting HIV/AIDS associations in Ecuador: results of a community study].

    Science.gov (United States)

    Bernier, Adeline; Acosta, María Elena; Castro, Daniela Rojas; Bonifaz, Cesar; Jaramillo, Santiago; Henry, Emilie; Otis, Joanne; Préau, Marie

    2015-09-01

    To describe the profile of people living with HIV/AIDS (PLHA) who contact HIV/AIDS associations in Ecuador and to identify the factors related to that contact. In 2011, a cross-sectional community study was conducted in two hospitals in Guayaquil. Based on a 125-question survey administered to 300 adult PLHA, a weighted multivariate regression analysis was performed to identify the factors related to contact with an association Of the 300 participants, 34 (11.3%) were in contact with an association. Being over the age of 35, scoring high on the self-efficacy scale, having suffered serious social consequences after disclosing their HIV status, being able to talk to friends about living with HIV, expressing the need to talk about living with HIV with a health professional, and scoring low on the index of the HIV status disclosure control effort were related to that contact. The characteristics of the PLHA in contact with an association were: being over the age of 35, having suffered serious social consequences following disclosure of seropositivity, and feeling that their psychosocial needs were not being met by the health system in terms of the services provided. These people more easily managed their HIV status in their social milieu and displayed a greater ability to talk to friends about their seropositivity. This information is useful for community actors to maintain and support mobilization on HIV in Ecuador.

  9. Genome-wide association study identifies 74 loci associated with educational attainment

    Science.gov (United States)

    Okbay, Aysu; Beauchamp, Jonathan P.; Fontana, Mark A.; Lee, James J.; Pers, Tune H.; Rietveld, Cornelius A.; Turley, Patrick; Chen, Guo-Bo; Emilsson, Valur; Meddens, S. Fleur W.; Oskarsson, Sven; Pickrell, Joseph K.; Thom, Kevin; Timshel, Pascal; de Vlaming, Ronald; Abdellaoui, Abdel; Ahluwalia, Tarunveer S.; Bacelis, Jonas; Baumbach, Clemens; Bjornsdottir, Gyda; Brandsma, Johannes H.; Concas, Maria Pina; Derringer, Jaime; Furlotte, Nicholas A.; Galesloot, Tessel E.; Girotto, Giorgia; Gupta, Richa; Hall, Leanne M.; Harris, Sarah E.; Hofer, Edith; Horikoshi, Momoko; Huffman, Jennifer E.; Kaasik, Kadri; Kalafati, Ioanna P.; Karlsson, Robert; Kong, Augustine; Lahti, Jari; van der Lee, Sven J.; de Leeuw, Christiaan; Lind, Penelope A.; Lindgren, Karl-Oskar; Liu, Tian; Mangino, Massimo; Marten, Jonathan; Mihailov, Evelin; Miller, Michael B.; van der Most, Peter J.; Oldmeadow, Christopher; Payton, Antony; Pervjakova, Natalia; Peyrot, Wouter J.; Qian, Yong; Raitakari, Olli; Rueedi, Rico; Salvi, Erika; Schmidt, Börge; Schraut, Katharina E.; Shi, Jianxin; Smith, Albert V.; Poot, Raymond A.; Pourcain, Beate; Teumer, Alexander; Thorleifsson, Gudmar; Verweij, Niek; Vuckovic, Dragana; Wellmann, Juergen; Westra, Harm-Jan; Yang, Jingyun; Zhao, Wei; Zhu, Zhihong; Alizadeh, Behrooz Z.; Amin, Najaf; Bakshi, Andrew; Baumeister, Sebastian E.; Biino, Ginevra; Bønnelykke, Klaus; Boyle, Patricia A.; Campbell, Harry; Cappuccio, Francesco P.; Davies, Gail; De Neve, Jan-Emmanuel; Deloukas, Panos; Demuth, Ilja; Ding, Jun; Eibich, Peter; Eisele, Lewin; Eklund, Niina; Evans68, David M.; Faul, Jessica D.; Feitosa, Mary F.; Forstner, Andreas J.; Gandin, Ilaria; Gunnarsson, Bjarni; Halldórsson, Bjarni V.; Harris, Tamara B.; Heath, Andrew C.; Hocking, Lynne J.; Holliday, Elizabeth G.; Homuth, Georg; Horan, Michael A.; Hottenga, Jouke-Jan; de Jager, Philip L.; Joshi, Peter K.; Jugessur, Astanand; Kaakinen, Marika A.; Kähönen, Mika; Kanoni, Stavroula; Keltigangas-Järvinen, Liisa; Kiemeney, Lambertus A.L.M.; Kolcic, Ivana; Koskinen, Seppo; Kraja, Aldi T.; Kroh, Martin; Kutalik, Zoltan; Latvala, Antti; Launer, Lenore J.; Lebreton, Maël P.; Levinson, Douglas F.; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C.M.; Loukola, Anu; Madden, Pamela A.; Mägi, Reedik; Mäki-Opas, Tomi; Marioni, Riccardo E.; Marques-Vidal, Pedro; Meddens, Gerardus A.; McMahon, George; Meisinger, Christa; Meitinger, Thomas; Milaneschi, Yusplitri; Milani, Lili; Montgomery, Grant W.; Myhre, Ronny; Nelson, Christopher P.; Nyholt, Dale R.; Ollier, William E.R.; Palotie, Aarno; Paternoster, Lavinia; Pedersen, Nancy L.; Petrovic, Katja E.; Porteous, David J.; Räikkönen, Katri; Ring, Susan M.; Robino, Antonietta; Rostapshova, Olga; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sanders, Alan R.; Sarin, Antti-Pekka; Schmidt, Helena; Scott, Rodney J.; Smith, Blair H.; Smith, Jennifer A.; Staessen, Jan A.; Steinhagen-Thiessen, Elisabeth; Strauch, Konstantin; Terracciano, Antonio; Tobin, Martin D.; Ulivi, Sheila; Vaccargiu, Simona; Quaye, Lydia; van Rooij, Frank J.A.; Venturini, Cristina; Vinkhuyzen, Anna A.E.; Völker, Uwe; Völzke, Henry; Vonk, Judith M.; Vozzi, Diego; Waage, Johannes; Ware, Erin B.; Willemsen, Gonneke; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Bisgaard, Hans; Boomsma, Dorret I.; Borecki, Ingrid B.; Bultmann, Ute; Chabris, Christopher F.; Cucca, Francesco; Cusi, Daniele; Deary, Ian J.; Dedoussis, George V.; van Duijn, Cornelia M.; Eriksson, Johan G.; Franke, Barbara; Franke, Lude; Gasparini, Paolo; Gejman, Pablo V.; Gieger, Christian; Grabe, Hans-Jörgen; Gratten, Jacob; Groenen, Patrick J.F.; Gudnason, Vilmundur; van der Harst, Pim; Hayward, Caroline; Hinds, David A.; Hoffmann, Wolfgang; Hyppönen, Elina; Iacono, William G.; Jacobsson, Bo; Järvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L.R.; Lehtimäki, Terho; Lehrer, Steven F.; Magnusson, Patrik K.E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Pendleton, Neil; Penninx, Brenda W.J.H.; Perola, Markus; Pirastu, Nicola; Pirastu, Mario; Polasek, Ozren; Posthuma, Danielle; Power, Christine; Province, Michael A.; Samani, Nilesh J.; Schlessinger, David; Schmidt, Reinhold; Sørensen, Thorkild I.A.; Spector, Tim D.; Stefansson, Kari; Thorsteinsdottir, Unnur; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Tung, Joyce Y.; Uitterlinden, André G.; Vitart, Veronique; Vollenweider, Peter; Weir, David R.; Wilson, James F.; Wright, Alan F.; Conley, Dalton C.; Krueger, Robert F.; Smith, George Davey; Hofman, Albert; Laibson, David I.; Medland, Sarah E.; Meyer, Michelle N.; Yang, Jian; Johannesson, Magnus; Visscher, Peter M.; Esko, Tõnu; Koellinger, Philipp D.; Cesarini, David; Benjamin, Daniel J.

    2016-01-01

    Summary Educational attainment (EA) is strongly influenced by social and other environmental factors, but genetic factors are also estimated to account for at least 20% of the variation across individuals1. We report the results of a genome-wide association study (GWAS) for EA that extends our earlier discovery sample1,2 of 101,069 individuals to 293,723 individuals, and a replication in an independent sample of 111,349 individuals from the UK Biobank. We now identify 74 genome-wide significant loci associated with number of years of schooling completed. Single-nucleotide polymorphisms (SNPs) associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioral phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because EA is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric disease. PMID:27225129

  10. Association studies in common endocrine diseases (review article

    Directory of Open Access Journals (Sweden)

    Akrami SM

    2007-05-01

    Full Text Available Our understanding of the pathogenesis of endocrine disorders increase rapidly by genetic studies at the molecular level. Common endocrine disorders such as diabetes mellitus, obesity, osteoporosis, dyslipidemia and cancer follow the multifactorial model in the genetic aspect. This review tries to clarify the approach in molecular studies of such diseases for clinicians in different specialties. How to evaluate a possible association between a single nucleotide polymorphism and an endocrinopathy or its complication is the main concern of this review. Two approaches for gene mapping will be discussed as well as main challenges regarding each approach. All such genetic studies ideally include some test of the association between genome sequence variation and the phenotype of interest such as the trait itself, the presence of a given complication, or measures of some endocrinopathy-related intermediate trait. Despite different advances in this analysis, there are major concerns regarding the overall performance and robustness of genetic association studies. By using powerful new high-throughput methods, further insights to molecular basis of such endocrine disorders can be expected. Close correlation between geneticists and clinicians can effectively bridge between basic sciences and clinical investigations.

  11. Association of Torsion With Testicular Cancer: A Retrospective Study.

    Science.gov (United States)

    Uguz, Sami; Yilmaz, Sercan; Guragac, Ali; Topuz, Bahadır; Aydur, Emin

    2016-02-01

    Testicular torsion is a medical emergency that usually requires surgical exploration. However, testicular malignancy has been anecdotally reported with the association of torsion in surgical specimens, and the published data remain scant on the association of torsion with testicular tumors. By retrospective medical record review, we identified 32 patients who had been diagnosed with testicular torsion, 20 of whom had undergone orchiectomy. Of these 20 patients, 2 were diagnosed with a malignancy. Our study, the largest case series to date, has shown an association between testicular torsion and testicular cancer of 6.4%. Testicular torsion is a medical emergency that usually requires surgical exploration. However, testicular malignancy has been anecdotally reported in association with torsion in surgical specimens. However, the published data remain scant on the association between torsion and the presence of testicular tumors. The present retrospective study explored the association between torsion and testicular cancer in patients with testicular torsion undergoing orchiectomy during scrotal exploration. A medical record review was performed of patients who had had a diagnosis of testicular torsion from January 2003 to February 2015. The clinicopathologic characteristics of the patients were recorded. A total of 32 patients were identified. Their mean age was 21.1 years (range, 7-39 years). All the patients had unilateral testicular torsion, which affected the left side in 17 and the right side in 15. Manual detorsion was successful in 6 patients, and 26 patients underwent emergency surgery with testicular detorsion (6 fixation surgery and 20 orchiectomy). The type of incision was scrotal in 6, inguinal in 10, and unspecified in 4. Pathologic examination of the orchiectomy specimens showed malignancy in 2 cases (seminoma and malign mixed germ cell tumor). To the best of our knowledge, the present single-center case series is the largest case series to date of

  12. Association of DNA Methylation Differences With Schizophrenia in an Epigenome-Wide Association Study.

    Science.gov (United States)

    Montano, Carolina; Taub, Margaret A; Jaffe, Andrew; Briem, Eirikur; Feinberg, Jason I; Trygvadottir, Rakel; Idrizi, Adrian; Runarsson, Arni; Berndsen, Birna; Gur, Ruben C; Moore, Tyler M; Perry, Rodney T; Fugman, Doug; Sabunciyan, Sarven; Yolken, Robert H; Hyde, Thomas M; Kleinman, Joel E; Sobell, Janet L; Pato, Carlos N; Pato, Michele T; Go, Rodney C; Nimgaonkar, Vishwajit; Weinberger, Daniel R; Braff, David; Gur, Raquel E; Fallin, Margaret Daniele; Feinberg, Andrew P

    2016-05-01

    DNA methylation may play an important role in schizophrenia (SZ), either directly as a mechanism of pathogenesis or as a biomarker of risk. To scan genome-wide DNA methylation data to identify differentially methylated CpGs between SZ cases and controls. Epigenome-wide association study begun in 2008 using DNA methylation levels of 456 513 CpG loci measured on the Infinium HumanMethylation450 array (Illumina) in a consortium of case-control studies for initial discovery and in an independent replication set. Primary analyses used general linear regression, adjusting for age, sex, race/ethnicity, smoking, batch, and cell type heterogeneity. The discovery set contained 689 SZ cases and 645 controls (n = 1334), from 3 multisite consortia: the Consortium on the Genetics of Endophenotypes in Schizophrenia, the Project among African-Americans To Explore Risks for Schizophrenia, and the Multiplex Multigenerational Family Study of Schizophrenia. The replication set contained 247 SZ cases and 250 controls (n = 497) from the Genomic Psychiatry Cohort. Identification of differentially methylated positions across the genome in SZ cases compared with controls. Of the 689 case participants in the discovery set, 477 (69%) were men and 258 (37%) were non-African American; of the 645 controls, 273 (42%) were men and 419 (65%) were non-African American. In our replication set, cases/controls were 76% male and 100% non-African American. We identified SZ-associated methylation differences at 923 CpGs in the discovery set (false discovery rate, <0.2). Of these, 625 showed changes in the same direction including 172 with P < .05 in the replication set. Some replicated differentially methylated positions are located in a top-ranked SZ region from genome-wide association study analyses. This analysis identified 172 replicated new associations with SZ after careful correction for cell type heterogeneity and other potential confounders. The overlap with previous genome

  13. Insights into kidney diseases from genome-wide association studies.

    Science.gov (United States)

    Wuttke, Matthias; Köttgen, Anna

    2016-09-01

    Over the past decade, genome-wide association studies (GWAS) have considerably improved our understanding of the genetic basis of kidney function and disease. Population-based studies, used to investigate traits that define chronic kidney disease (CKD), have identified >50 genomic regions in which common genetic variants associate with estimated glomerular filtration rate or urinary albumin-to-creatinine ratio. Case-control studies, used to study specific CKD aetiologies, have yielded risk loci for specific kidney diseases such as IgA nephropathy and membranous nephropathy. In this Review, we summarize important findings from GWAS and clinical and experimental follow-up studies. We also compare risk allele frequency, effect sizes, and specificity in GWAS of CKD-defining traits and GWAS of specific CKD aetiologies and the implications for study design. Genomic regions identified in GWAS of CKD-defining traits can contain causal genes for monogenic kidney diseases. Population-based research on kidney function traits can therefore generate insights into more severe forms of kidney diseases. Experimental follow-up studies have begun to identify causal genes and variants, which are potential therapeutic targets, and suggest mechanisms underlying the high allele frequency of causal variants. GWAS are thus a useful approach to advance knowledge in nephrology.

  14. Lipid nanotechnologies for structural studies of membrane-associated proteins.

    Science.gov (United States)

    Stoilova-McPhie, Svetla; Grushin, Kirill; Dalm, Daniela; Miller, Jaimy

    2014-11-01

    We present a methodology of lipid nanotubes (LNT) and nanodisks technologies optimized in our laboratory for structural studies of membrane-associated proteins at close to physiological conditions. The application of these lipid nanotechnologies for structure determination by cryo-electron microscopy (cryo-EM) is fundamental for understanding and modulating their function. The LNTs in our studies are single bilayer galactosylceramide based nanotubes of ∼20 nm inner diameter and a few microns in length, that self-assemble in aqueous solutions. The lipid nanodisks (NDs) are self-assembled discoid lipid bilayers of ∼10 nm diameter, which are stabilized in aqueous solutions by a belt of amphipathic helical scaffold proteins. By combining LNT and ND technologies, we can examine structurally how the membrane curvature and lipid composition modulates the function of the membrane-associated proteins. As proof of principle, we have engineered these lipid nanotechnologies to mimic the activated platelet's phosphtaidylserine rich membrane and have successfully assembled functional membrane-bound coagulation factor VIII in vitro for structure determination by cryo-EM. The macromolecular organization of the proteins bound to ND and LNT are further defined by fitting the known atomic structures within the calculated three-dimensional maps. The combination of LNT and ND technologies offers a means to control the design and assembly of a wide range of functional membrane-associated proteins and complexes for structural studies by cryo-EM. The presented results confirm the suitability of the developed methodology for studying the functional structure of membrane-associated proteins, such as the coagulation factors, at a close to physiological environment. © 2014 Wiley Periodicals, Inc.

  15. Facial dermatosis associated with Demodex: a case-control study*

    OpenAIRE

    Zhao, Ya-e; Peng, Yan; Wang, Xiang-lan; Wu, Li-ping; Wang, Mei; Yan, Hu-ling; Xiao, Sheng-xiang

    2011-01-01

    Demodex has been considered to be related with multiple skin disorders, but controversy persists. In this case-control study, a survey was conducted with 860 dermatosis patients aged 12 to 84 years in Xi’an, China to identify the association between facial dermatosis and Demodex. Amongst the patients, 539 suffered from facial dermatosis and 321 suffered from non-facial dermatosis. Demodex mites were sampled and examined using the skin pressurization method. Multivariate regression analysis wa...

  16. Genome-wide association study of toxic metals and trace elements reveals novel associations.

    Science.gov (United States)

    Ng, Esther; Lind, P Monica; Lindgren, Cecilia; Ingelsson, Erik; Mahajan, Anubha; Morris, Andrew; Lind, Lars

    2015-08-15

    The accumulation of toxic metals in the human body is influenced by exposure and mechanisms involved in metabolism, some of which may be under genetic control. This is the first genome-wide association study to investigate variants associated with whole blood levels of a range of toxic metals. Eleven toxic metals and trace elements (aluminium, cadmium, cobalt, copper, chromium, mercury, manganese, molybdenum, nickel, lead and zinc) were assayed in a cohort of 949 individuals using mass spectrometry. DNA samples were genotyped on the Infinium Omni Express bead microarray and imputed up to reference panels from the 1000 Genomes Project. Analyses revealed two regions associated with manganese level at genome-wide significance, mapping to 4q24 and 1q41. The lead single nucleotide polymorphism (SNP) in the 4q24 locus was rs13107325 (P-value = 5.1 × 10(-11), β = -0.77), located in an exon of SLC39A8, which encodes a protein involved in manganese and zinc transport. The lead SNP in the 1q41 locus is rs1776029 (P-value = 2.2 × 10(-14), β = -0.46). The SNP lies within the intronic region of SLC30A10, another transporter protein. Among other metals, the loci 6q14.1 and 3q26.32 were associated with cadmium and mercury levels (P = 1.4 × 10(-10), β = -1.2 and P = 1.8 × 10(-9), β = -1.8, respectively). Whole blood measurements of toxic metals are associated with genetic variants in metal transporter genes and others. This is relevant in inferring metabolic pathways of metals and identifying subsets of individuals who may be more susceptible to metal toxicity. © The Author 2015. Published by Oxford University Press.

  17. Effect of ethnomedicinal plants used in folklore medicine in Jordan as antibiotic resistant inhibitors on Escherichia coli

    Directory of Open Access Journals (Sweden)

    Aburjai Talal A

    2010-02-01

    Full Text Available Abstract Background Escherichia coli occurs naturally in the human gut; however, certain strains that can cause infections, are becoming resistant to antibiotics. Multidrug-resistant E. coli that produce extended-spectrum β lactamases (ESBLs, such as the CTX-M enzymes, have emerged within the community setting as an important cause of urinary tract infections (UTIs and bloodstream infections may be associated with these community-onsets. This is the first report testing the antibiotic resistance-modifying activity of nineteen Jordanian plants against multidrug-resistant E. coli. Methods The susceptibility of bacterial isolates to antibiotics was tested by determining their minimum inhibitory concentrations (MICs using a broth microdilution method. Nineteen Jordanian plant extracts (Capparis spinosa L., Artemisia herba-alba Asso, Echinops polyceras Boiss., Gundelia tournefortii L, Varthemia iphionoides Boiss. & Blanche, Eruca sativa Mill., Euphorbia macroclada L., Hypericum trequetrifolium Turra, Achillea santolina L., Mentha longifolia Host, Origanum syriacum L., Phlomis brachydo(Boiss. Zohary, Teucrium polium L., Anagyris foetida L., Trigonella foenum-graecum L., Thea sinensis L., Hibiscus sabdariffa L., Lepidium sativum L., Pimpinella anisum L. were combined with antibiotics, from different classes, and the inhibitory effect of the combinations was estimated. Results Methanolic extracts of the plant materials enhanced the inhibitory effects of chloramphenicol, neomycin, doxycycline, cephalexin and nalidixic acid against both the standard strain and to a lesser extent the resistant strain of E. coli. Two edible plant extracts (Gundelia tournefortii L. and Pimpinella anisum L. generally enhanced activity against resistant strain. Some of the plant extracts like Origanum syriacum L.(Labiateae, Trigonella foenum- graecum L.(Leguminosae, Euphorbia macroclada (Euphorbiaceae and Hibiscus sabdariffa (Malvaceae did not enhance the activity of

  18. A Pooled Genome-Wide Association Study of Asperger Syndrome.

    Directory of Open Access Journals (Sweden)

    Varun Warrier

    Full Text Available Asperger Syndrome (AS is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC, which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448 were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448 lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

  19. A Pooled Genome-Wide Association Study of Asperger Syndrome.

    Science.gov (United States)

    Warrier, Varun; Chakrabarti, Bhismadev; Murphy, Laura; Chan, Allen; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Peltonen, Leena; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E; Baron-Cohen, Simon

    2015-01-01

    Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

  20. Physical factors associated with fatigue after stroke: an exploratory study.

    Science.gov (United States)

    Hoang, Chi Lan Nguyen; Salle, Jean-Yves; Mandigout, Stéphane; Hamonet, Julia; Macian-Montoro, Francisco; Daviet, Jean-Christophe

    2012-01-01

    To look for a relationship between physical fatigue and physical parameters in patients at least 3 months post stroke. We conducted a prospective cross-sectional study of 32 poststroke patients (average duration of stroke 40 months) who were recruited among in- and outpatients followed by the Department of Physical and Rehabilitation Medicine of a university hospital. Fatigue was defined as a Fatigue Severity Scale (FSS) score of 4 or more. The parameters studied were age, sex, time since stroke, Demeurisse Motor Index, Barthel Index score, new Functional Ambulation Category, Berg Balance Scale, 10-meter walk test, 6-minute walk test, Dijon Physical Activity Score, Montgomery and Asberg Depression Rating Scale, Epworth Sleepiness Scale, presence of pain, and length and area of the center of pressure displacement obtained posturographically. Two-thirds of patients (65.6%) were fatigued. The mean FSS score was 4.3 ± 1.8. Fatigue was not associated with the physical parameters studied; notably, there was no correlation with motor impairment, autonomy and walking capacity, or balance and physical activity. However, after multivariate analysis, we found an association between physical fatigue and time since the occurrence of stroke (P = .05). Our study revealed a relationship between pain and physical fatigue, as reported by 2 other studies. Poststroke fatigue management should include appropriate pain management. Further studies are necessary to determine the causes of physical fatigue after stroke.

  1. Adult Learning Open University Determinants (ALOUD) study: Psychological factors associated with study success

    NARCIS (Netherlands)

    Neroni, Joyce; De Groot, Renate; Kirschner, Paul A.

    2013-01-01

    Neroni, J., De Groot, R. H. M., & Kirschner, P. A. (2012, 7 November). Adult Learning Open University Determinants (ALOUD) study: Psychological factors associated with study success. Poster presentation at the International ICO Fall School, Girona, Spain.

  2. Adult Learning Open University Determinants study (ALOUD): Biological lifestyle factors associated with study success

    NARCIS (Netherlands)

    Gijselaers, Jérôme; De Groot, Renate; Kirschner, Paul A.

    2012-01-01

    Gijselaers, H. J. M., De Groot, R. H. M., & Kirschner, P. A. (2012, 7 November). Adult Learning Open University Determinants study (ALOUD): Biological lifestyle factors associated with study success. Poster presentation at the International ICO Fall School, Girona, Spain.

  3. Multiethnic genetic association studies improve power for locus discovery.

    Directory of Open Access Journals (Sweden)

    Sara L Pulit

    Full Text Available To date, genome-wide association studies have focused almost exclusively on populations of European ancestry. These studies continue with the advent of next-generation sequencing, designed to systematically catalog and test low-frequency variation for a role in disease. A complementary approach would be to focus further efforts on cohorts of multiple ethnicities. This leverages the idea that population genetic drift may have elevated some variants to higher allele frequency in different populations, boosting statistical power to detect an association. Based on empirical allele frequency distributions from eleven populations represented in HapMap Phase 3 and the 1000 Genomes Project, we simulate a range of genetic models to quantify the power of association studies in multiple ethnicities relative to studies that exclusively focus on samples of European ancestry. In each of these simulations, a first phase of GWAS in exclusively European samples is followed by a second GWAS phase in any of the other populations (including a multiethnic design. We find that nontrivial power gains can be achieved by conducting future whole-genome studies in worldwide populations, where, in particular, African populations contribute the largest relative power gains for low-frequency alleles (<5% of moderate effect that suffer from low power in samples of European descent. Our results emphasize the importance of broadening genetic studies to worldwide populations to ensure efficient discovery of genetic loci contributing to phenotypic trait variability, especially for those traits for which large numbers of samples of European ancestry have already been collected and tested.

  4. Poor replication validity of biomedical association studies reported by newspapers

    Science.gov (United States)

    Smith, Andy; Boraud, Thomas; Gonon, François

    2017-01-01

    Objective To investigate the replication validity of biomedical association studies covered by newspapers. Methods We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study. Their replication validity was assessed using a comparison with their corresponding meta-analyses. Results Among the 5029 articles of our database, 156 primary studies (of which 63 were lifestyle studies) and 5 meta-analysis articles were reported in 1561 newspaper articles. The percentage of covered studies and the number of newspaper articles per study strongly increased with the impact factor of the journal that published each scientific study. Newspapers almost equally covered initial (5/39 12.8%) and subsequent (58/600 9.7%) lifestyle studies. In contrast, initial non-lifestyle studies were covered more often (48/366 13.1%) than subsequent ones (45/3718 1.2%). Newspapers never covered initial studies reporting null findings and rarely reported subsequent null observations. Only 48.7% of the 156 studies reported by newspapers were confirmed by the corresponding meta-analyses. Initial non-lifestyle studies were less often confirmed (16/48) than subsequent ones (29/45) and than lifestyle studies (31/63). Psychiatric studies covered by newspapers were less often confirmed (10/38) than the neurological (26/41) or somatic (40/77) ones. This is correlated to an even larger coverage of initial studies in psychiatry. Whereas 234 newspaper articles covered the 35 initial studies that were later disconfirmed, only four press articles covered a subsequent null finding and mentioned the refutation of an initial claim. Conclusion Journalists

  5. Genome-wide association studies of obesity and metabolic syndrome.

    Science.gov (United States)

    Fall, Tove; Ingelsson, Erik

    2014-01-25

    Until just a few years ago, the genetic determinants of obesity and metabolic syndrome were largely unknown, with the exception of a few forms of monogenic extreme obesity. Since genome-wide association studies (GWAS) became available, large advances have been made. The first single nucleotide polymorphism robustly associated with increased body mass index (BMI) was in 2007 mapped to a gene with for the time unknown function. This gene, now known as fat mass and obesity associated (FTO) has been repeatedly replicated in several ethnicities and is affecting obesity by regulating appetite. Since the first report from a GWAS of obesity, an increasing number of markers have been shown to be associated with BMI, other measures of obesity or fat distribution and metabolic syndrome. This systematic review of obesity GWAS will summarize genome-wide significant findings for obesity and metabolic syndrome and briefly give a few suggestions of what is to be expected in the next few years. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  6. A statistical study of post-flare-associated CME events

    Science.gov (United States)

    Youssef, M.; Mawad, R.; shaltout, Mosalam

    2013-04-01

    We present a statistical study of post-flare-associated CMEs (PFA-CMEs) during the period from 1996 to 2010. By investigating all CMEs and X-ray flares, respectively, in the LASCO and GOES archives, we found 15875 CMEs of which masses are well measured and 25112 X-ray flares of which positions are determined from their optical counterparts. Under certain temporal and spatial criteria of these CMEs and solar flare events, 291PFA-CMEs events have been selected. Linking the flare fluxes with CME speeds of these paired events, we found that there is a reasonable positive linear relation between the CME linear speed and associated flare flux. The results show also the CME width increases as the flux of its associated solar flare increases. Besides we found that there is a fine positive linear relation between the CME mass and its width. Matching the flare fluxes with CME masses of these paired events, we find the CME mass increases as the flux of its associated solar flare increases. Finally we find the PFA-CME events are in regular more decelerated than the other CMEs.

  7. [Association study of telomere length with idiopathic male infertility].

    Science.gov (United States)

    Shuyuan, Liu; Changjun, Zhang; Haiying, Peng; Xiaoqin, Huang; Hao, Sun; Keqin, Lin; Kai, Huang; Jiayou, Chu; Zhaoqing, Yang

    2015-11-01

    Telomeres are evolutionary conserved, multifunctional DNA-protein complexes located at the ends of eukaryotic chromosomes. Telomeres maintain chromosome stability and genome integrity and also play an important role in meiosis which aid in synapsis, homologous recombination, and segregation. Sperm telomere has been reported to play an important role in fertilization and embryo development. Nowadays, the association between telomere and reproduction is one of the major areas of interest, however whether sperm telomere associated with male infertility is not clear. In this study, in order to find out the association between Chinese idiopathic infertility and sperm telomere length, we analyzed the difference of sperm telomere length between idiopathic infertile men and normal fertile men, as well as the correlations between sperm telomere length and human semen characteristics. We analyzed 126 Chinese idiopathic infertile men and 138 normal fertile men for sperm telomere length by using quantitative PCR. We found that the relative sperm mean telomere length of infertile men was significantly shorter than that of fertile men (2.894 ± 0.115 vs. 4.016 ± 0.603, P=5.097 x 10⁻⁵). Both sperm count and semen progressive motility are related with telomere length. Our results suggest that sperm telomere length is associated with idiopathic male infertility of China and we proposed the possibility that shorter telomeres in sperm chromosome will reduce spermatogenesis and sperm functions, which finally affected the fertility of male.

  8. A Photometric Study of Stars in the MBM 12 Association

    Science.gov (United States)

    Herbst, William; Williams, Eric C.; Hawley, Wendy P.

    2004-03-01

    We have monitored four fields containing nine previously identified members of the MBM 12 association to search for photometric variability and periodicity in these pre-main-sequence stars. Seven of the nine are found to be variable and definite periodicity (of 1.2, 2.6, and 6.2 days) is found for three of them, including the classical T Tauri star LkHα 264. Two other members are possibly periodic, but each requires confirmation. In addition, a ``field'' star that is associated with the X-ray source RX J0255.9+2005 was discovered to be a variable with a period of 4.2 days. Our results indicate that the photometric variability characteristics of the known MBM 12 association members are typical of what is found in roughly few-million-year-old stellar groups such as IC 348, supporting arguments for a similar age. In particular, there is a mix of periodic and nonperiodic variables with typical amplitudes (in Cousins I) of 0.1-0.5 mag, in addition to a small number of larger amplitude variables. The periods, as a group, are somewhat shorter than in IC 348, but when allowance is made for the known dependence of period on mass in pre-main-sequence stars the difference may not be significant. Our data confirm and illustrate the value of photometric monitoring as a tool for identifying likely association members and for studying rotation in extremely young stellar groups.

  9. Factors associated with incomplete small bowel capsule endoscopy studies

    Institute of Scientific and Technical Information of China (English)

    Mitchell; M; Lee; Andrew; Jacques; Eric; Lam; Ricky; Kwok; Pardis; Lakzadeh; Ajit; Sandhar; Brandon; Segal; Sigrid; Svarta; Joanna; Law; Robert; Enns

    2010-01-01

    AIM:To identify patient risk factors associated with incomplete small bowel capsule endoscopy(CE) studies.METHODS:Data from all CE procedures performed at St.Paul's Hospital in Vancouver,British Columbia,Canada,between December 2001 and June 2008 were collected and analyzed on a retrospective basis.Data collection for complete and incomplete CE study groups included patient demographics as well as a number of potential risk factors for incomplete CE including indication for the procedure,hospitalization,dia...

  10. [Genome-wide association study for adolescent idiopathic scoliosis].

    Science.gov (United States)

    Ogura, Yoji; Kou, Ikuyo; Scoliosis, Japan; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro

    2016-04-01

    Adolescent idiopathic scoliosis(AIS)is a polygenic disease. Genome-wide association studies(GWASs)have been performed for a lot of polygenic diseases. For AIS, we conducted GWAS and identified the first AIS locus near LBX1. After the discovery, we have extended our study by increasing the numbers of subjects and SNPs. In total, our Japanese GWAS has identified four susceptibility genes. GWASs for AIS have also been performed in the USA and China, which identified one and three susceptibility genes, respectively. Here we review GWASs in Japan and abroad and functional analysis to clarify the pathomechanism of AIS.

  11. Genome-wide association study of antisocial personality disorder

    Science.gov (United States)

    Rautiainen, M-R; Paunio, T; Repo-Tiihonen, E; Virkkunen, M; Ollila, H M; Sulkava, S; Jolanki, O; Palotie, A; Tiihonen, J

    2016-01-01

    The pathophysiology of antisocial personality disorder (ASPD) remains unclear. Although the most consistent biological finding is reduced grey matter volume in the frontal cortex, about 50% of the total liability to developing ASPD has been attributed to genetic factors. The contributing genes remain largely unknown. Therefore, we sought to study the genetic background of ASPD. We conducted a genome-wide association study (GWAS) and a replication analysis of Finnish criminal offenders fulfilling DSM-IV criteria for ASPD (N=370, N=5850 for controls, GWAS; N=173, N=3766 for controls and replication sample). The GWAS resulted in suggestive associations of two clusters of single-nucleotide polymorphisms at 6p21.2 and at 6p21.32 at the human leukocyte antigen (HLA) region. Imputation of HLA alleles revealed an independent association with DRB1*01:01 (odds ratio (OR)=2.19 (1.53–3.14), P=1.9 × 10-5). Two polymorphisms at 6p21.2 LINC00951–LRFN2 gene region were replicated in a separate data set, and rs4714329 reached genome-wide significance (OR=1.59 (1.37–1.85), P=1.6 × 10−9) in the meta-analysis. The risk allele also associated with antisocial features in the general population conditioned for severe problems in childhood family (β=0.68, P=0.012). Functional analysis in brain tissue in open access GTEx and Braineac databases revealed eQTL associations of rs4714329 with LINC00951 and LRFN2 in cerebellum. In humans, LINC00951 and LRFN2 are both expressed in the brain, especially in the frontal cortex, which is intriguing considering the role of the frontal cortex in behavior and the neuroanatomical findings of reduced gray matter volume in ASPD. To our knowledge, this is the first study showing genome-wide significant and replicable findings on genetic variants associated with any personality disorder. PMID:27598967

  12. Genome-wide association study and premature ovarian failure.

    Science.gov (United States)

    Christin-Maitre, S; Tachdjian, G

    2010-05-01

    Premature ovarian failure (POF) is defined as an amenorrhea for more than 4months, associated with elevated gonadotropins, usually higher than 20mIU/ml, occurring in a woman before the age of 40. Some candidate genes have been identified in the past 15years, such as FOXL2, FSHR, BMP15, GDF9, Xfra premutation. However, POF etiology remains unknown in more than 90% of cases. The first strategy to identify candidate gene, apart from studying genes involved in ovarian failure in animal models, relies on the study of X chromosome deletions and X;autosome translocations in patients. The second strategy is based on linkage analysis, the third one on Comparative Genomic Hybridization (CGH) array. The latest strategy relies on Genome-Wide Association Studies (GWAS). This technique consists in screening single nucleotide polymorphisms (SNPs) in patients and controls. So far, three studies have been performed and have identified different loci potentially linked to POF, such as PTHB1 and ADAMTS19. However, replications in independent cohorts need to be performed. GWAS studies on large cohorts of women with POF should find new candidate genes in the near future.

  13. STUDY OF ASSOCIATION OF DIABETIC MACULOPATHY WITH HYPERLIPIDEMIA

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    Sivaramareddy

    2015-12-01

    Full Text Available BACKGROUND Diabetic maculopathy is the most common microvascular complication in diabetes, which can produce severe visual loss. Apart from diabetes, a number of systemic factor like hyperlipidemia has an important role in occurrence and progression of Diabetic Macular Edema. Thus control of these factors along with control of blood sugars can prevent or reverse the maculopathy and thereby restore the vision of diabetic patients. OBJECTIVES To study the association of diabetic maculopathy with Hyperlipidemia to highlight the effect of this factor on onset and/or progression of diabetic maculopathy. MATERIALS AND METHODS A cross-sectional comparative study was carried out in 100 diabetic patient with retinopathy more than 18 years attending Department of Ophthalmology. For all patients visual acuity, slit lamp examination, intraocular pressure, fundus examination was conducted. Patients were divided into 2 groups (Group1 - Retinopathy with maculopathy and Group 2 - Retinopathy without maculopathy. A detailed history of duration of diabetes, type of treatment, hyperlipidemia were taken from the patient. The significance of the hyperlipidemia was compared in both the groups involved in the study. RESULTS In the present study of 100 patients diagnosed with diabetic retinopathy, majority were males (54% in study group and 58% in control group by age 51-60 years. In the study group, majority (76% patients had duration of DM>10 years, whereas in control group majority of patients (70% had duration 5-10 years. The mean value of PPBS, HbA1C were significantly higher in study group than in control group. In this study among serum lipids, serum cholesterol, serum triglycerides, VLDL and LDL levels were significantly higher in study group compared to control group. CONCLUSION Diabetic maculopathy was significantly associated with hyperlipidemia. Thus early detection of this risk factor and their control prevent the development and progression of maculopathy

  14. Multiple Sclerosis Associated Risk Factors: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Jalal POOROLAJAL

    2015-11-01

    Full Text Available Background: Hamadan Province is one of the high-risk regions in Iran for Multiple sclerosis (MS. A majority of the epidemiological studies conducted in Iran addressing MS are descriptive. This study was conducted to assess MS and its associated risk factors in Hamadan Province, the west of Iran.Methods: This case-control study compared 100 patients with MS (case group and 100 patients with acute infectious diseases (control group from September 2013 to March 2014. A checklist was used to assess the demographic, medical, and family history of the patients. The Friedman-Rosenman questionnaire was also used to assess personality type. Statistical analysis was performed using logistic regression model with Stata 11 software program.Results: The adjusted odds ratio (OR estimate of MS was 4.37 (95% CI: 2.33, 8.20 for females compared to males; 0.15 (95% CI: 0.06, 0.43 for people aged above 50 years compared to aged 14 to 29 years; 0.44 (95% CI: 0.21, 0.91 for overweight or obese people compared to normal weights. Crude OR indicated a significant association between the occurrence of MS and exclusive breast feeding, season of birth, and smoking. However, the association was not statistically significant after adjustment for other covariates.Conclusion: The risk of MS is significantly lower in male gender, obese/overweight, and old people. Furthermore, non-smoking, non-exclusive breast-feeding, and born in autumn may increase the risk of MS but need further investigation. However, long-term large prospective cohort studies are needed to investigate the true effect of the potential risk factors on MS. Keywords: Multiple sclerosis, Risk factors, Case-control study, Iran

  15. A genome-wide association study of female sexual dysfunction.

    Directory of Open Access Journals (Sweden)

    Andrea Burri

    Full Text Available BACKGROUND: Female sexual dysfunction (FSD is an important but controversial problem with serious negative impact on women's quality of life. Data from twin studies have shown a genetic contribution to the development and maintenance of FSD. METHODOLOGY/PRINCIPAL FINDINGS: We performed a genome-wide association study (GWAS on 2.5 million single-nucleotide polymorphisms (SNPs in 1,104 female twins (25-81 years of age in a population-based register and phenotypic data on lifelong sexual functioning. Although none reached conventional genome-wide level of significance (10 × -8, we found strongly suggestive associations with the phenotypic dimension of arousal (rs13202860, P = 1.2 × 10(-7; rs1876525, P = 1.2 × 10(-7; and rs13209281 P = 8.3 × 10(-7 on chromosome 6, around 500 kb upstream of the locus HTR1E (5-hydroxytryptamine receptor 1E locus, related to the serotonin brain pathways. We could not replicate previously reported candidate SNPs associated with FSD in the DRD4, 5HT2A and IL-1B loci. CONCLUSIONS/SIGNIFICANCE: We report the first GWAS of FSD symptoms in humans. This has pointed to several "risk alleles" and the implication of the serotonin and GABA pathways. Ultimately, understanding key mechanisms via this research may lead to new FSD treatments and inform clinical practice and developments in psychiatric nosology.

  16. Sincipital Encephaloceles: A Study of Associated Brain Malformations

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    Shashidhar Vedavyas Achar

    2016-01-01

    Full Text Available Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%, and corpus callosal agenesis (12 patients was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients, hydrocephalus (7 patients, and agyria-pachygyria complex (2 patients. Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations.

  17. Genetic Association Study of KCNQ5 Polymorphisms with High Myopia

    Directory of Open Access Journals (Sweden)

    Xuan Liao

    2017-01-01

    Full Text Available Identification of genetic variations related to high myopia may advance our knowledge of the etiopathogenesis of refractive error. This study investigated the role of potassium channel gene (KCNQ5 polymorphisms in high myopia. We performed a case-control study of 1563 unrelated Han Chinese subjects (809 cases of high myopia and 754 emmetropic controls. Five tag single-nucleotide polymorphisms (SNPs of KCNQ5 were genotyped, and association testing with high myopia was conducted using logistic regression analysis adjusted for sex and age to give Pasym values, and multiple comparisons were corrected by permutation test to give Pemp values. All five noncoding SNPs were associated with high myopia. The SNP rs7744813, previously shown to be associated with refractive error and myopia in two GWAS, showed an odds ratio of 0.75 (95% CI 0.63–0.90; Pemp = 0.0058 for the minor allele. The top SNP rs9342979 showed an odds ratio of 0.75 (95% CI 0.64–0.89; Pemp = 0.0045 for the minor allele. Both SNPs are located within enhancer histone marks and DNase-hypersensitive sites. Our data support the involvement of KCNQ5 gene polymorphisms in the genetic susceptibility to high myopia and further exploration of KCNQ5 as a risk factor for high myopia.

  18. A genome-wide association study in multiple system atrophy

    Science.gov (United States)

    Sailer, Anna; Nalls, Michael A.; Schulte, Claudia; Federoff, Monica; Price, T. Ryan; Lees, Andrew; Ross, Owen A.; Dickson, Dennis W.; Mok, Kin; Mencacci, Niccolo E.; Schottlaender, Lucia; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean S.; Wood, Nicholas W.; Traynor, Bryan J.; Ferrucci, Luigi; Federoff, Howard J.; Mhyre, Timothy R.; Morris, Huw R.; Deuschl, Günther; Quinn, Niall; Widner, Hakan; Albanese, Alberto; Infante, Jon; Bhatia, Kailash P.; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günter U.; Wüllner, Ullrich; Goldwurm, Stefano; Pellecchia, Maria Teresa; Ferreira, Joaquim; Tolosa, Eduardo; Bloem, Bastiaan R.; Rascol, Olivier; Meissner, Wassilios G.; Hardy, John A.; Revesz, Tamas; Holton, Janice L.; Gasser, Thomas; Wenning, Gregor K.; Singleton, Andrew B.

    2016-01-01

    Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). Methods: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. Results: We found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10−6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA. Conclusions: We present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps. PMID:27629089

  19. Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Giuseppe Matullo

    Full Text Available Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM, a rare aggressive tumor. Nevertheless, only 5-17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia. Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes, causing at most a 2-3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14. Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52-95.28. These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos.

  20. Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

    Science.gov (United States)

    Matullo, Giuseppe; Guarrera, Simonetta; Betti, Marta; Fiorito, Giovanni; Ferrante, Daniela; Voglino, Floriana; Cadby, Gemma; Di Gaetano, Cornelia; Rosa, Fabio; Russo, Alessia; Hirvonen, Ari; Casalone, Elisabetta; Tunesi, Sara; Padoan, Marina; Giordano, Mara; Aspesi, Anna; Casadio, Caterina; Ardissone, Francesco; Ruffini, Enrico; Betta, Pier Giacomo; Libener, Roberta; Guaschino, Roberto; Piccolini, Ezio; Neri, Monica; Musk, Arthur W B; de Klerk, Nicholas H; Hui, Jennie; Beilby, John; James, Alan L; Creaney, Jenette; Robinson, Bruce W; Mukherjee, Sutapa; Palmer, Lyle J; Mirabelli, Dario; Ugolini, Donatella; Bonassi, Stefano; Magnani, Corrado; Dianzani, Irma

    2013-01-01

    Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5-17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia. Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes), causing at most a 2-3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14). Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC) of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52-95.28). These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos.

  1. Pilot Study of Corneal Sensitivity and Its Association in Keratoconus.

    Science.gov (United States)

    Mandathara, Preeji S; Stapleton, Fiona J; Kokkinakis, Jim; Willcox, Mark D P

    2017-02-01

    To evaluate corneal sensitivity and its association with other clinical parameters in keratoconus. Twenty-four subjects with keratoconus aged between 18 and 65 years were recruited in this cross-sectional study. Ocular symptoms, corneal topography, tear variables such as tear osmolarity, volume and lower tear meniscus height, ocular surface staining, central sensitivity threshold (CST), and corneal subepithelial nerve mapping were obtained. Association between central CST and other clinical variables was examined using the Spearman correlation coefficient. Partial correlation was performed to control for effects of confounding factors. Data from the most severe eye of each subject were included in analyses. Based on the maximum simulated keratometry (Kmax) reading, subjects were graded as having mild (N = 11; K max ≤ 52 D) or severe (N = 13; K max > 52 D) keratoconus. Central corneal sensitivity was lower (ie, increased CST) in the severe keratoconus group compared with that in the mild keratoconus group (median, interquartile range: 1.09; 0.60-19.66 vs. 0.51; 0.39-1.51 g/mm, P = 0.035). In bivariate correlations, reduced corneal sensitivity in keratoconus was associated with age (ρ = 0.42, P = 0.040), disease duration (ρ = 0.49, P = 0.015) and severity (ρ = 0.44; P = 0.032), lower central nerve fiber density (ρ = -0.68, P = 0.014), contact lens wear (ρ = 0.44; P = 0.025), and contact lens tolerance (ρ = 0.46; P = 0.033). After adjusting for contact lens wear, reduced corneal sensitivity was negatively associated with ocular symptoms (ρ = -0.426, P = 0.048) and pain sensitivity (ρ = -0.423, P = 0.045) and positively associated with corneal staining (ρ = 0.52, P = 0.011). Altered corneal sensitivity in keratoconus affected ocular symptoms and ocular surface health, which may have significant impact on the success of management options for keratoconus.

  2. Genome-wide association study identifies multiple loci associated with bladder cancer risk

    Science.gov (United States)

    Figueroa, Jonine D.; Ye, Yuanqing; Siddiq, Afshan; Garcia-Closas, Montserrat; Chatterjee, Nilanjan; Prokunina-Olsson, Ludmila; Cortessis, Victoria K.; Kooperberg, Charles; Cussenot, Olivier; Benhamou, Simone; Prescott, Jennifer; Porru, Stefano; Dinney, Colin P.; Malats, Núria; Baris, Dalsu; Purdue, Mark; Jacobs, Eric J.; Albanes, Demetrius; Wang, Zhaoming; Deng, Xiang; Chung, Charles C.; Tang, Wei; Bas Bueno-de-Mesquita, H.; Trichopoulos, Dimitrios; Ljungberg, Börje; Clavel-Chapelon, Françoise; Weiderpass, Elisabete; Krogh, Vittorio; Dorronsoro, Miren; Travis, Ruth; Tjønneland, Anne; Brenan, Paul; Chang-Claude, Jenny; Riboli, Elio; Conti, David; Gago-Dominguez, Manuela; Stern, Mariana C.; Pike, Malcolm C.; Van Den Berg, David; Yuan, Jian-Min; Hohensee, Chancellor; Rodabough, Rebecca; Cancel-Tassin, Geraldine; Roupret, Morgan; Comperat, Eva; Chen, Constance; De Vivo, Immaculata; Giovannucci, Edward; Hunter, David J.; Kraft, Peter; Lindstrom, Sara; Carta, Angela; Pavanello, Sofia; Arici, Cecilia; Mastrangelo, Giuseppe; Kamat, Ashish M.; Lerner, Seth P.; Barton Grossman, H.; Lin, Jie; Gu, Jian; Pu, Xia; Hutchinson, Amy; Burdette, Laurie; Wheeler, William; Kogevinas, Manolis; Tardón, Adonina; Serra, Consol; Carrato, Alfredo; García-Closas, Reina; Lloreta, Josep; Schwenn, Molly; Karagas, Margaret R.; Johnson, Alison; Schned, Alan; Armenti, Karla R.; Hosain, G.M.; Andriole, Gerald; Grubb, Robert; Black, Amanda; Ryan Diver, W.; Gapstur, Susan M.; Weinstein, Stephanie J.; Virtamo, Jarmo; Haiman, Chris A.; Landi, Maria T.; Caporaso, Neil; Fraumeni, Joseph F.; Vineis, Paolo; Wu, Xifeng; Silverman, Debra T.; Chanock, Stephen; Rothman, Nathaniel

    2014-01-01

    Candidate gene and genome-wide association studies (GWAS) have identified 11 independent susceptibility loci associated with bladder cancer risk. To discover additional risk variants, we conducted a new GWAS of 2422 bladder cancer cases and 5751 controls, followed by a meta-analysis with two independently published bladder cancer GWAS, resulting in a combined analysis of 6911 cases and 11 814 controls of European descent. TaqMan genotyping of 13 promising single nucleotide polymorphisms with P < 1 × 10−5 was pursued in a follow-up set of 801 cases and 1307 controls. Two new loci achieved genome-wide statistical significance: rs10936599 on 3q26.2 (P = 4.53 × 10−9) and rs907611 on 11p15.5 (P = 4.11 × 10−8). Two notable loci were also identified that approached genome-wide statistical significance: rs6104690 on 20p12.2 (P = 7.13 × 10−7) and rs4510656 on 6p22.3 (P = 6.98 × 10−7); these require further studies for confirmation. In conclusion, our study has identified new susceptibility alleles for bladder cancer risk that require fine-mapping and laboratory investigation, which could further understanding into the biological underpinnings of bladder carcinogenesis. PMID:24163127

  3. A genome-wide association study of optic disc parameters.

    Directory of Open Access Journals (Sweden)

    Wishal D Ramdas

    2010-06-01

    Full Text Available The optic nerve head is involved in many ophthalmic disorders, including common diseases such as myopia and open-angle glaucoma. Two of the most important parameters are the size of the optic disc area and the vertical cup-disc ratio (VCDR. Both are highly heritable but genetically largely undetermined. We performed a meta-analysis of genome-wide association (GWA data to identify genetic variants associated with optic disc area and VCDR. The gene discovery included 7,360 unrelated individuals from the population-based Rotterdam Study I and Rotterdam Study II cohorts. These cohorts revealed two genome-wide significant loci for optic disc area, rs1192415 on chromosome 1p22 (p = 6.72x10(-19 within 117 kb of the CDC7 gene and rs1900004 on chromosome 10q21.3-q22.1 (p = 2.67x10(-33 within 10 kb of the ATOH7 gene. They revealed two genome-wide significant loci for VCDR, rs1063192 on chromosome 9p21 (p = 6.15x10(-11 in the CDKN2B gene and rs10483727 on chromosome 14q22.3-q23 (p = 2.93x10(-10 within 40 kbp of the SIX1 gene. Findings were replicated in two independent Dutch cohorts (Rotterdam Study III and Erasmus Rucphen Family study; N = 3,612, and the TwinsUK cohort (N = 843. Meta-analysis with the replication cohorts confirmed the four loci and revealed a third locus at 16q12.1 associated with optic disc area, and four other loci at 11q13, 13q13, 17q23 (borderline significant, and 22q12.1 for VCDR. ATOH7 was also associated with VCDR independent of optic disc area. Three of the loci were marginally associated with open-angle glaucoma. The protein pathways in which the loci of optic disc area are involved overlap with those identified for VCDR, suggesting a common genetic origin.

  4. Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma

    Science.gov (United States)

    Yucesoy, Berran; Kaufman, Kenneth M.; Lummus, Zana L.; Weirauch, Matthew T.; Zhang, Ge; Cartier, André; Boulet, Louis-Philippe; Sastre, Joaquin; Quirce, Santiago; Tarlo, Susan M.; Cruz, Maria-Jesus; Munoz, Xavier; Harley, John B.; Bernstein, David I.

    2015-01-01

    Diisocyanates, reactive chemicals used to produce polyurethane products, are the most common causes of occupational asthma. The aim of this study is to identify susceptibility gene variants that could contribute to the pathogenesis of diisocyanate asthma (DA) using a Genome-Wide Association Study (GWAS) approach. Genome-wide single nucleotide polymorphism (SNP) genotyping was performed in 74 diisocyanate-exposed workers with DA and 824 healthy controls using Omni-2.5 and Omni-5 SNP microarrays. We identified 11 SNPs that exceeded genome-wide significance; the strongest association was for the rs12913832 SNP located on chromosome 15, which has been mapped to the HERC2 gene (p = 6.94 × 10−14). Strong associations were also found for SNPs near the ODZ3 and CDH17 genes on chromosomes 4 and 8 (rs908084, p = 8.59 × 10−9 and rs2514805, p = 1.22 × 10−8, respectively). We also prioritized 38 SNPs with suggestive genome-wide significance (p < 1 × 10−6). Among them, 17 SNPs map to the PITPNC1, ACMSD, ZBTB16, ODZ3, and CDH17 gene loci. Functional genomics data indicate that 2 of the suggestive SNPs (rs2446823 and rs2446824) are located within putative binding sites for the CCAAT/Enhancer Binding Protein (CEBP) and Hepatocyte Nuclear Factor 4, Alpha transcription factors (TFs), respectively. This study identified SNPs mapping to the HERC2, CDH17, and ODZ3 genes as potential susceptibility loci for DA. Pathway analysis indicated that these genes are associated with antigen processing and presentation, and other immune pathways. Overlap of 2 suggestive SNPs with likely TF binding sites suggests possible roles in disruption of gene regulation. These results provide new insights into the genetic architecture of DA and serve as a basis for future functional and mechanistic studies. PMID:25918132

  5. Study on acute burn injury survivors and the associated issues

    Institute of Scientific and Technical Information of China (English)

    Jonathan Bayuo; Pius Agbenorku; Richcane Amankwa

    2016-01-01

    Objective: To explore the phenomenon of surviving burn injury and its associated issues and concerns. Methods: A cross sectional survey approach was utilized to obtain data from one hundred burn survivors who were purposely selected. Descriptive statistics and content analysis were used to analyze data. Results: Findings from the study indicate that burns from flames stood out as a major cause of burns. Physical discomfort/pain, anxiety, needing assistance in meeting self-care needs, financial and social limitations were identified as the major impact of the injury. Furthermore, participants perceived the existence of societal stigma. In addition, hope in God or a spiritual being as well as family support were the two key resources participants relied on to cope effectively. Conclusions: Surviving burn injury is associated with varied physical, social and psy-chological factors and survivors may need professional assistance to fully adjust after discharge.

  6. Technological issues and experimental design of gene association studies.

    Science.gov (United States)

    Distefano, Johanna K; Taverna, Darin M

    2011-01-01

    Genome-wide association studies (GWAS), in which thousands of single-nucleotide polymorphisms (SNPs) spanning the genome are genotyped in individuals who are phenotypically well characterized, -currently represent the most popular strategy for identifying gene regions associated with common -diseases and related quantitative traits. Improvements in technology and throughput capability, development of powerful statistical tools, and more widespread acceptance of pooling-based genotyping approaches have led to greater utilization of GWAS in human genetics research. However, important considerations for optimal experimental design, including selection of the most appropriate genotyping platform, can enhance the utility of the approach even further. This chapter reviews experimental and technological issues that may affect the success of GWAS findings and proposes strategies for developing the most comprehensive, logical, and cost-effective approaches for genotyping given the population of interest.

  7. Feasibility study for banking loan using association rule mining classifier

    Directory of Open Access Journals (Sweden)

    Agus Sasmito Aribowo

    2015-03-01

    Full Text Available The problem of bad loans in the koperasi can be reduced if the koperasi can detect whether member can complete the mortgage debt or decline. The method used for identify characteristic patterns of prospective lenders in this study, called Association Rule Mining Classifier. Pattern of credit member will be converted into knowledge and used to classify other creditors. Classification process would separate creditors into two groups: good credit and bad credit groups. Research using prototyping for implementing the design into an application using programming language and development tool. The process of association rule mining using Weighted Itemset Tidset (WIT–tree methods. The results shown that the method can predict the prospective customer credit. Training data set using 120 customers who already know their credit history. Data test used 61 customers who apply for credit. The results concluded that 42 customers will be paying off their loans and 19 clients are decline

  8. Multiple comparison procedures for neuroimaging genomewide association studies.

    Science.gov (United States)

    Hua, Wen-Yu; Nichols, Thomas E; Ghosh, Debashis

    2015-01-01

    Recent research in neuroimaging has focused on assessing associations between genetic variants that are measured on a genomewide scale and brain imaging phenotypes. A large number of works in the area apply massively univariate analyses on a genomewide basis to find single nucleotide polymorphisms that influence brain structure. In this paper, we propose using various dimensionality reduction methods on both brain structural MRI scans and genomic data, motivated by the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. We also consider a new multiple testing adjustment method and compare it with two existing false discovery rate (FDR) adjustment methods. The simulation results suggest an increase in power for the proposed method. The real-data analysis suggests that the proposed procedure is able to find associations between genetic variants and brain volume differences that offer potentially new biological insights. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.

    Directory of Open Access Journals (Sweden)

    Sandosh Padmanabhan

    2010-10-01

    Full Text Available Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%-2% of the population variation in BP and hypertension. This suggests the existence of more undiscovered common variants. We conducted a genome-wide association study in 1,621 hypertensive cases and 1,699 controls and follow-up validation analyses in 19,845 cases and 16,541 controls using an extreme case-control design. We identified a locus on chromosome 16 in the 5' region of Uromodulin (UMOD; rs13333226, combined P value of 3.6 × 10⁻¹¹. The minor G allele is associated with a lower risk of hypertension (OR [95%CI]: 0.87 [0.84-0.91], reduced urinary uromodulin excretion, better renal function; and each copy of the G allele is associated with a 7.7% reduction in risk of CVD events after adjusting for age, sex, BMI, and smoking status (H.R. = 0.923, 95% CI 0.860-0.991; p = 0.027. In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003. In clinical functional studies, we also consistently show the minor G allele is associated with lower urinary uromodulin excretion. The exclusive expression of uromodulin in the thick portion of the ascending limb of Henle suggests a putative role of this variant in hypertension through an effect on sodium homeostasis. The newly discovered UMOD locus for hypertension has the potential to give new insights into the role of uromodulin in BP regulation and to identify novel drugable targets for reducing cardiovascular risk.

  10. A genome-wide association study of heat stress-associated SNPs in catfish.

    Science.gov (United States)

    Jin, Y; Zhou, T; Geng, X; Liu, S; Chen, A; Yao, J; Jiang, C; Tan, S; Su, B; Liu, Z

    2017-04-01

    Heat tolerance is a complex and economically important trait for catfish genetic breeding programs. With global climate change, it is becoming an increasingly important trait. To better understand the molecular basis of heat stress, a genome-wide association study (GWAS) was carried out using the 250 K catfish SNP array with interspecific backcross progenies, which derived from crossing female channel catfish with male F1 hybrid catfish (female channel catfish × male blue catfish). Three significant associated SNPs were detected by performing an EMMAX approach for GWAS. The SNP located on linkage group 14 explained 12.1% of phenotypical variation. The other two SNPs, located on linkage group 16, explained 11.3 and 11.5% of phenotypical variation respectively. A total of 14 genes with heat stress related functions were detected within the significant associated regions. Among them, five genes-TRAF2, FBXW5, ANAPC2, UBR1 and KLHL29- have known functions in the protein degradation process through the ubiquitination pathway. Other genes related to heat stress include genes involved in protein biosynthesis (PRPF4 and SYNCRIP), protein folding (DNAJC25), molecule and iron transport (SLC25A46 and CLIC5), cytoskeletal reorganization (COL12A1) and energy metabolism (COX7A2, PLCB1 and PLCB4) processes. The results provide fundamental information about genes and pathways that is useful for further investigation into the molecular mechanisms of heat stress. The associated SNPs could be promising candidates for selecting heat-tolerant catfish lines after validating their effects on larger and various catfish populations.

  11. Effect of ethnomedicinal plants used in folklore medicine in Jordan as antibiotic resistant inhibitors on Escherichia coli

    OpenAIRE

    2010-01-01

    Abstract Background Escherichia coli occurs naturally in the human gut; however, certain strains that can cause infections, are becoming resistant to antibiotics. Multidrug-resistant E. coli that produce extended-spectrum β lactamases (ESBLs), such as the CTX-M enzymes, have emerged within the community setting as an important cause of urinary tract infections (UTIs) and bloodstream infections may be associated with these community-onsets. This is the first report testing the antibiotic resis...

  12. Facial dermatosis associated with Demodex: a case-control study

    Institute of Scientific and Technical Information of China (English)

    Ya-e ZHAO; Yah PENG; Xiang-lan WANG; Li-ping WU; Mei WANG; Hu-ling YAN; Sheng-xiang XIAO

    2011-01-01

    Demodex has been considered to be related with multiple skin disorders,but controversy persists.In this case-control study,a survey was conducted with 860 dermatosis patients aged 12 to 84 years in Xi'an,China to identify the association between facial dermatosis and Demodex.Amongst the patients,539 suffered from facial dermatosis and 321 suffered from non-facial dermatosis.Demodex mites were sampled and examined using the skin pressurization method.Multivariate regression analysis was applied to analyze the association between facial dermatosis and Demodex infestation,and to identify the risk factors of Demodex infestation.The results showed that total detection rate of Demodex was 43.0%.Patients aged above 30 years had higher odds of Demodex infestation than those under 30 years.Compared to patients with neutral skin,patients with mixed,oily,or dry skin were more likely to be infested with Demodex (odds ratios (ORs) were 2.5,2.4,and 1.6,respectively).Moreover,Demodex infestation was found to be statistically associated with rosacea (OR=8.1),steroid-induced dermatitis (OR=2.7),seborrheic dermatitis (OR=2.2),and primary irritation dermatitis (OR=2.1).In particular,ORs calculated from the severe infestation (≥5 mites/cm2) rate were significantly higher than those of the total rate.Therefore,we concluded that Demodex is associated with rosacea,steroid-induced dermatitis,seborrheic dermatitis,and primary irritation dermatitis.The rate of severe infestation is found to be more correlated with various dermatosis than the total infestation rate.The risk factors of Demodex infestation,age,and skin types were identified.Our study also suggested that good hygiene practice might reduce the chances of demodicosis and Demodex infestation.

  13. Facial dermatosis associated with Demodex: a case-control study.

    Science.gov (United States)

    Zhao, Ya-e; Peng, Yan; Wang, Xiang-lan; Wu, Li-ping; Wang, Mei; Yan, Hu-ling; Xiao, Sheng-xiang

    2011-12-01

    Demodex has been considered to be related with multiple skin disorders, but controversy persists. In this case-control study, a survey was conducted with 860 dermatosis patients aged 12 to 84 years in Xi'an, China to identify the association between facial dermatosis and Demodex. Amongst the patients, 539 suffered from facial dermatosis and 321 suffered from non-facial dermatosis. Demodex mites were sampled and examined using the skin pressurization method. Multivariate regression analysis was applied to analyze the association between facial dermatosis and Demodex infestation, and to identify the risk factors of Demodex infestation. The results showed that total detection rate of Demodex was 43.0%. Patients aged above 30 years had higher odds of Demodex infestation than those under 30 years. Compared to patients with neutral skin, patients with mixed, oily, or dry skin were more likely to be infested with Demodex (odds ratios (ORs) were 2.5, 2.4, and 1.6, respectively). Moreover, Demodex infestation was found to be statistically associated with rosacea (OR=8.1), steroid-induced dermatitis (OR=2.7), seborrheic dermatitis (OR=2.2), and primary irritation dermatitis (OR=2.1). In particular, ORs calculated from the severe infestation (≥5 mites/cm(2)) rate were significantly higher than those of the total rate. Therefore, we concluded that Demodex is associated with rosacea, steroid-induced dermatitis, seborrheic dermatitis, and primary irritation dermatitis. The rate of severe infestation is found to be more correlated with various dermatosis than the total infestation rate. The risk factors of Demodex infestation, age, and skin types were identified. Our study also suggested that good hygiene practice might reduce the chances of demodicosis and Demodex infestation.

  14. Disease-Concordant Twins Empower Genetic Association Studies.

    Science.gov (United States)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case-control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease-concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease-concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost. © 2016 John Wiley & Sons Ltd/University College London.

  15. 论迪士尼动画对民间文学的继承与创新%On the Inheritance and Innovation of the Disney Cartoon from Folklore Literature

    Institute of Scientific and Technical Information of China (English)

    李慧军; 相龙烽; 耿春明

    2012-01-01

    Disney' s animated films have many audiences around the world, one of the principal reasons is that Disney has learned a lot in the film themes from folk cultural elements of nations in the world. In Disney' s adaptation film from folklore literature, they have shaped characters with a passion and spirituality as the primary means, so there has been a highly influential figure in every high reputation and high grossing animated film. At the same time, complicated and full plot is the main focus on folk tales adapted from folklore literature. Expression of the cultural connotations of the United States is also an important basis for adaptation of the folklore literature.%迪士尼的动画电影在全世界拥有众多的观众,其中一个重要的原因是迪士尼在影片题材上大量借鉴了世界各民族的民间文学元素。迪士尼电影作品在对民间文学的改编中,主要以塑造具有激情与灵性的人物为核心手段,所以在每一部高口碑、高票房的动画电影中都会有一个极富影响力的人物形象。复杂与丰满的情节也是其对民间故事改编的主要着力点;当然,对美国的文化内涵表达也是其改编民间文学的重要依据之一。

  16. Female Reading from the View of Folklore as Exemplified by Chiguihua%民俗视阈下的女性阅读——以郁达夫《迟桂花》为例

    Institute of Scientific and Technical Information of China (English)

    毛海莹

    2015-01-01

    Yu Dafu portrays a female literature image named Lian in Chiguihua. Based on the view of female reading, it can provide a reasonable foundation for Lian's abnormal manner through researching the potential identity of a widow. It also deeply discovers female's human nature. Meanwhile, the fiction also makes overturn criticism to male perspective and pays close attention to the relationship between female, language and symbol, which is an important strategy to practice female reading. Furthermore, analysis on the female folklore in other writers' works in southern China can help to explore the relationship between female folklore and female's human nature and discover the inner aesthetic essence of female folklore.%郁达夫的《迟桂花》塑造了"莲"这一女性形象,对其潜在、隐性的"寡妇"民俗身份展开女性阅读为"莲"的反常举止提供了合理的根基,对女性人性的开拓也更为深刻.而对男性视角进行颠覆性批判的同时转而关注女性与语言、符号的关系,也是女性阅读在文中得以实践的一个重要策略.基于此,对其他现代文学江南作家笔下的女性民俗进行解读,可以更深层地探析女性民俗与女性人性开拓之关系,揭示女性民俗的内在审美本质.

  17. Identification of Promising Mutants Associated with Egg Production Traits Revealed by Genome-Wide Association Study.

    Directory of Open Access Journals (Sweden)

    Jingwei Yuan

    Full Text Available Egg number (EN, egg laying rate (LR and age at first egg (AFE are important production traits related to egg production in poultry industry. To better understand the knowledge of genetic architecture of dynamic EN during the whole laying cycle and provide the precise positions of associated variants for EN, LR and AFE, laying records from 21 to 72 weeks of age were collected individually for 1,534 F2 hens produced by reciprocal crosses between White Leghorn and Dongxiang Blue-shelled chicken, and their genotypes were assayed by chicken 600 K Affymetrix high density genotyping arrays. Subsequently, pedigree and SNP-based genetic parameters were estimated and a genome-wide association study (GWAS was conducted on EN, LR and AFE. The heritability estimates were similar between pedigree and SNP-based estimates varying from 0.17 to 0.36. In the GWA analysis, we identified nine genome-wide significant loci associated with EN of the laying periods from 21 to 26 weeks, 27 to 36 weeks and 37 to 72 weeks. Analysis of GTF2A1 and CLSPN suggested that they influenced the function of ovary and uterus, and may be considered as relevant candidates. The identified SNP rs314448799 for accumulative EN from 21 to 40 weeks on chromosome 5 created phenotypic differences of 6.86 eggs between two homozygous genotypes, which could be potentially applied to the molecular breeding for EN selection. Moreover, our finding showed that LR was a moderate polygenic trait. The suggestive significant region on chromosome 16 for AFE suggested the relationship between sex maturity and immune in the current population. The present study comprehensively evaluates the role of genetic variants in the development of egg laying. The findings will be helpful to investigation of causative genes function and future marker-assisted selection and genomic selection in chickens.

  18. Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes

    Science.gov (United States)

    Tin, Adrienne; Sorice, Rossella; Gorski, Mathias; Yeo, Nan Cher; Chu, Audrey Y.; Li, Man; Li, Yong; Mijatovic, Vladan; Ko, Yi-An; Taliun, Daniel; Luciani, Alessandro; Chen, Ming-Huei; Yang, Qiong; Foster, Meredith C.; Olden, Matthias; Hiraki, Linda T.; Tayo, Bamidele O.; Fuchsberger, Christian; Dieffenbach, Aida Karina; Shuldiner, Alan R.; Smith, Albert V.; Zappa, Allison M.; Lupo, Antonio; Kollerits, Barbara; Ponte, Belen; Stengel, Bénédicte; Krämer, Bernhard K.; Paulweber, Bernhard; Mitchell, Braxton D.; Hayward, Caroline; Helmer, Catherine; Meisinger, Christa; Gieger, Christian; Shaffer, Christian M.; Müller, Christian; Langenberg, Claudia; Ackermann, Daniel; Siscovick, David; Boerwinkle, Eric; Kronenberg, Florian; Ehret, Georg B.; Homuth, Georg; Waeber, Gerard; Navis, Gerjan; Gambaro, Giovanni; Malerba, Giovanni; Eiriksdottir, Gudny; Li, Guo; Wichmann, H. Erich; Grallert, Harald; Wallaschofski, Henri; Völzke, Henry; Brenner, Herrmann; Kramer, Holly; Leach, I. Mateo; Rudan, Igor; Hillege, Hans L.; Beckmann, Jacques S.; Lambert, Jean Charles; Luan, Jian'an; Zhao, Jing Hua; Chalmers, John; Coresh, Josef; Denny, Joshua C.; Butterbach, Katja; Launer, Lenore J.; Ferrucci, Luigi; Kedenko, Lyudmyla; Haun, Margot; Metzger, Marie; Woodward, Mark; Hoffman, Matthew J.; Nauck, Matthias; Waldenberger, Melanie; Pruijm, Menno; Bochud, Murielle; Rheinberger, Myriam; Verweij, Niek; Wareham, Nicholas J.; Endlich, Nicole; Soranzo, Nicole; Polasek, Ozren; van der Harst, Pim; Pramstaller, Peter Paul; Vollenweider, Peter; Wild, Philipp S.; Gansevoort, Ron T.; Rettig, Rainer; Biffar, Reiner; Carroll, Robert J.; Katz, Ronit; Loos, Ruth J.F.; Hwang, Shih-Jen; Coassin, Stefan; Bergmann, Sven; Rosas, Sylvia E.; Stracke, Sylvia; Harris, Tamara B.; Corre, Tanguy; Zeller, Tanja; Illig, Thomas; Aspelund, Thor; Tanaka, Toshiko; Lendeckel, Uwe; Völker, Uwe; Gudnason, Vilmundur; Chouraki, Vincent; Koenig, Wolfgang; Kutalik, Zoltan; O'Connell, Jeffrey R.; Parsa, Afshin; Heid, Iris M.; Paterson, Andrew D.; de Boer, Ian H.; Devuyst, Olivier; Lazar, Jozef; Endlich, Karlhans; Susztak, Katalin; Tremblay, Johanne; Hamet, Pavel; Jacob, Howard J.; Böger, Carsten A.

    2016-01-01

    Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted meta-analyses of genome-wide association studies and independent replication in up to 5,825 individuals of European ancestry with diabetes and up to 46,061 without diabetes, followed by functional studies. Known associations of variants in CUBN, encoding cubilin, with the urinary albumin-to-creatinine ratio (UACR) were confirmed in the overall sample (P = 2.4 × 10−10). Gene-by-diabetes interactions were detected and confirmed for variants in HS6ST1 and near RAB38/CTSC. Single nucleotide polymorphisms at these loci demonstrated a genetic effect on UACR in individuals with but not without diabetes. The change in the average UACR per minor allele was 21% for HS6ST1 (P = 6.3 × 10–7) and 13% for RAB38/CTSC (P = 5.8 × 10−7). Experiments using streptozotocin-induced diabetic Rab38 knockout and control rats showed higher urinary albumin concentrations and reduced amounts of megalin and cubilin at the proximal tubule cell surface in Rab38 knockout versus control rats. Relative expression of RAB38 was higher in tubuli of patients with diabetic kidney disease compared with control subjects. The loci identified here confirm known pathways and highlight novel pathways influencing albuminuria. PMID:26631737

  19. Genome-wide association studies in pharmacogenomics of antidepressants.

    Science.gov (United States)

    Lin, Eugene; Lane, Hsien-Yuan

    2015-01-01

    Major depressive disorder (MDD) is one of the most common psychiatric disorders worldwide. Doctors must prescribe antidepressants based on educated guesses due to the fact that it is unmanageable to predict the effectiveness of any particular antidepressant in an individual patient. With the recent advent of scientific research, the genome-wide association study (GWAS) is extensively employed to analyze hundreds of thousands of single nucleotide polymorphisms by high-throughput genotyping technologies. In addition to the candidate-gene approach, the GWAS approach has recently been utilized to investigate the determinants of antidepressant response to therapy. In this study, we reviewed GWAS studies, their limitations and future directions with respect to the pharmacogenomics of antidepressants in MDD.

  20. Detecting rare variants in case-parents association studies.

    Directory of Open Access Journals (Sweden)

    Kuang-Fu Cheng

    Full Text Available Despite the success of genome-wide association studies (GWASs in detecting common variants (minor allele frequency ≥0.05 many suggested that rare variants also contribute to the genetic architecture of diseases. Recently, researchers demonstrated that rare variants can show a strong stratification which may not be corrected by using existing methods. In this paper, we focus on a case-parents study and consider methods for testing group-wise association between multiple rare (and common variants in a gene region and a disease. All tests depend on the numbers of transmitted mutant alleles from parents to their diseased children across variants and hence they are robust to the effect of population stratification. We use extensive simulation studies to compare the performance of four competing tests: the largest single-variant transmission disequilibrium test (TDT, multivariable test, combined TDT, and a likelihood ratio test based on a random-effects model. We find that the likelihood ratio test is most powerful in a wide range of settings and there is no negative impact to its power performance when common variants are also included in the analysis. If deleterious and protective variants are simultaneously analyzed, the likelihood ratio test was generally insensitive to the effect directionality, unless the effects are extremely inconsistent in one direction.

  1. Association of sialolithiasis with cholelithiasis: A population-based study.

    Science.gov (United States)

    Hung, Shih-Han; Lin, Herng-Ching; Su, Chin-Hui; Chung, Shiu-Dong

    2016-04-01

    The purpose of this study was to evaluate the association between cholelithiasis and developing sialolithiasis using a population-based coverage database. The data for this study were sourced from the Taiwan Longitudinal Health Insurance Database. We included 745 subjects with sialolithiasis as cases and 3725 sex-matched and age-matched subjects without sialolithiasis as controls. Chi-square test revealed a significant difference in the prevalence of prior cholelithiasis between the cases and controls (8.6% vs 4.1%; p cholelithiasis for the cases was 2.19 (95% confidence interval [CI] = 1.62-2.98) when compared with the controls after adjusting for monthly income, geographic location, urbanization level, and tobacco use disorder. The adjusted OR of prior cholelithiasis for cases was 2.20 (95% CI = 1.46-3.33) and 2.15 (95% CI = 1.38-3.42) than controls for men and women, respectively. This study demonstrates an association between sialolithiasis and cholelithiasis. © 2015 Wiley Periodicals, Inc.

  2. [Statin associated myopathy in clinical practice. Results of DAMA study].

    Science.gov (United States)

    Millán, Jesús; Pedro-Botet, Juan; Climent, Elisenda; Millán, Joaquín; Rius, Joan

    Muscle symptoms, with or without elevation of creatin kinase are one of the main adverse effects of statin therapy, a fact that sometimes limits their use. The aim of this study was to evaluate the clinical characteristics of patients treated with statins who have complained muscle symptoms and to identify possible predictive factors. A cross-sectional one-visit, non-interventional, national multicenter study including patients of both sexes over 18 years of age referred for past or present muscle symptoms associated with statin therapy was conducted. 3,845 patients were recruited from a one-day record from 2,001 physicians. Myalgia was present in 78.2% of patients included in the study, myositis in 19.3%, and rhabdomyolysis in 2.5%. Patients reported muscle pain in 77.5% of statin-treated individuals, general weakness 42.7%, and cramps 28.1%. Kidney failure, intense physical exercise, alcohol consumption (>30g/d in men and 20g/d in women) and abdominal obesity were the clinical situations associated with statin myopathy. Myalgia followed by myositis are the most frequent statin-related side effects. It should be recommended control environmental factors such as intense exercise and alcohol intake as well as abdominal obesity and renal function of the patient treated with statins. Copyright © 2016 Sociedad Española de Arteriosclerosis. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Association between diabetes and tuberculosis: case-control study

    Science.gov (United States)

    Pereira, Susan Martins; de Araújo, Gleide Santos; Santos, Carlos Antônio de Souza Teles; de Oliveira, Maeli Gomes; Barreto, Maurício Lima

    2016-01-01

    ABSTRACT OBJECTIVE To test the association between diabetes and tuberculosis. METHODS It is a case-control study, matched by age and sex. We included 323 new cases of tuberculosis with positive results for bacilloscopy. The controls were 323 respiratory symptomatic patients with negative bacilloscopy, from the same health services, such as: ambulatory cases from three referral hospitals and six basic health units responsible for the notifications of new cases of tuberculosis in Salvador, Bahia. Data collection occurred between 2008 and 2010. The instruments used were structured interview, including clinical data, capillary blood glucose (during fasting or postprandial), and the CAGE questionnaire for screening of abusive consumption of alcohol. Descriptive, exploratory, and multivariate analysis was performed using conditional logistic regression. RESULTS The average age of the cases was 38.5 (SD = 14.2) years and of the controls, 38.5 (SD = 14.3) years. Among cases and controls, most subjects (61%) were male. In univariate analysis we found association between the occurrence of diabetes and tuberculosis (OR = 2.37; 95%CI 1.04–5.42), which remained statistically significant after adjustment for potential confounders (OR = 3.12; 95%CI 1.12–7.94). CONCLUSIONS The association between diabetes and tuberculosis can hinder the control of tuberculosis, contributing to the maintainance of the disease burden. The situation demands increasing early detection of diabetes among people with tuberculosis, in an attempt to improve disease control strategies. PMID:28099656

  4. Association between diabetes and tuberculosis: case-control study

    Directory of Open Access Journals (Sweden)

    Susan Martins Pereira

    Full Text Available ABSTRACT OBJECTIVE To test the association between diabetes and tuberculosis. METHODS It is a case-control study, matched by age and sex. We included 323 new cases of tuberculosis with positive results for bacilloscopy. The controls were 323 respiratory symptomatic patients with negative bacilloscopy, from the same health services, such as: ambulatory cases from three referral hospitals and six basic health units responsible for the notifications of new cases of tuberculosis in Salvador, Bahia. Data collection occurred between 2008 and 2010. The instruments used were structured interview, including clinical data, capillary blood glucose (during fasting or postprandial, and the CAGE questionnaire for screening of abusive consumption of alcohol. Descriptive, exploratory, and multivariate analysis was performed using conditional logistic regression. RESULTS The average age of the cases was 38.5 (SD = 14.2 years and of the controls, 38.5 (SD = 14.3 years. Among cases and controls, most subjects (61% were male. In univariate analysis we found association between the occurrence of diabetes and tuberculosis (OR = 2.37; 95%CI 1.04–5.42, which remained statistically significant after adjustment for potential confounders (OR = 3.12; 95%CI 1.12–7.94. CONCLUSIONS The association between diabetes and tuberculosis can hinder the control of tuberculosis, contributing to the maintainance of the disease burden. The situation demands increasing early detection of diabetes among people with tuberculosis, in an attempt to improve disease control strategies.

  5. Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies.

    Science.gov (United States)

    Yang, Qiong; Wang, Yuanjia

    2012-05-01

    This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical) or different types of components (e.g., some are continuous and others are categorical). We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

  6. Genome-wide association study identified a narrow chromosome 1 region associated with chicken growth traits.

    Directory of Open Access Journals (Sweden)

    Liang Xie

    Full Text Available Chicken growth traits are important economic traits in broilers. A large number of studies are available on finding genetic factors affecting chicken growth. However, most of these studies identified chromosome regions containing putative quantitative trait loci and finding causal mutations is still a challenge. In this genome-wide association study (GWAS, we identified a narrow 1.5 Mb region (173.5-175 Mb of chicken (Gallus gallus chromosome (GGA 1 to be strongly associated with chicken growth using 47,678 SNPs and 489 F2 chickens. The growth traits included aggregate body weight (BW at 0-90 d of age measured weekly, biweekly average daily gains (ADG derived from weekly body weight, and breast muscle weight (BMW, leg muscle weight (LMW and wing weight (WW at 90 d of age. Five SNPs in the 1.5 Mb KPNA3-FOXO1A region at GGA1 had the highest significant effects for all growth traits in this study, including a SNP at 8.9 Kb upstream of FOXO1A for BW at 22-48 d and 70 d, a SNP at 1.9 Kb downstream of FOXO1A for WW, a SNP at 20.9 Kb downstream of ENSGALG00000022732 for ADG at 29-42 d, a SNP in INTS6 for BW at 90 d, and a SNP in KPNA3 for BMW and LMW. The 1.5 Mb KPNA3-FOXO1A region contained two microRNA genes that could bind to messenger ribonucleic acid (mRNA of IGF1, FOXO1A and KPNA3. It was further indicated that the 1.5 Mb GGA1 region had the strongest effects on chicken growth during 22-42 d.

  7. Association between trochlear morphology and chondromalacia patella: an MRI study.

    Science.gov (United States)

    Duran, Semra; Cavusoglu, Mehtap; Kocadal, Onur; Sakman, Bulent

    This study aimed to compare trochlear morphology seen in magnetic resonance imaging between patients with chondromalacia patella and age-matched control patients without cartilage lesion. Trochlear morphology was evaluated using the lateral trochlear inclination, medial trochlear inclination, sulcus angle and trochlear angle on the axial magnetic resonance images. Consequently, an association between abnormal trochlear morphology and chondromalacia patella was identified in women. In particular, women with flattened lateral trochlea are at an increased risk of patellar cartilage structural damage. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Factors associated with pharmacy student interest in international study.

    Science.gov (United States)

    Owen, Chelsea; Breheny, Patrick; Ingram, Richard; Pfeifle, William; Cain, Jeff; Ryan, Melody

    2013-04-12

    OBJECTIVES. To examine the interest of pharmacy students in international study, the demographic factors and involvement characteristics associated with that interest, and the perceived advantages and barriers of engaging in international opportunities during pharmacy school. METHODS. A self-administered electronic survey instrument was distributed to first-, second-, and third-year pharmacy students at the University of Kentucky College of Pharmacy. RESULTS. There were 192 total respondents, for a response rate of 50.9%. Seventy-two percent reported interest in international study. Previous international study experience (p=0.001), previous international travel experience (p=0.002), year in pharmacy school (p=0.03), level of academic involvement (pinternational study interest. Positive influences to international study included desire to travel and availability of scholarships. Perceived barriers included an inability to pay expenses and lack of foreign language knowledge. CONCLUSIONS. The needs and interests of pharmacy students should be considered in the development and expansion of internationalization programs in order to effectively optimize global partnerships and available international experiences. Colleges and schools of pharmacy should engage students early in the curriculum when interest in study-abroad opportunities is highest and seek to alleviate concerns about expenses as a primary influence on study-abroad decisions through provision of financial assistance.

  9. A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study.

    Directory of Open Access Journals (Sweden)

    Simon Baron-Cohen

    Full Text Available Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419 versus low (n = 183 mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10(-5, 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 ×10(-6. In this analysis, one of the SNPs (rs789859 showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115 were nominally significant (lowest p-value 3.278 × 10(-4. Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64. The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.

  10. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

    DEFF Research Database (Denmark)

    Evangelou, Evangelos; Kerkhof, Hanneke J; Styrkarsdottir, Unnur

    2014-01-01

    Osteoarthritis (OA) is the most common form of arthritis with a clear genetic component. To identify novel loci associated with hip OA we performed a meta-analysis of genome-wide association studies (GWAS) on European subjects.......Osteoarthritis (OA) is the most common form of arthritis with a clear genetic component. To identify novel loci associated with hip OA we performed a meta-analysis of genome-wide association studies (GWAS) on European subjects....

  11. [Immigration and factors associated with breastfeeding. CALINA study].

    Science.gov (United States)

    Oves Suárez, B; Escartín Madurga, L; Samper Villagrasa, M P; Cuadrón Andrés, L; Alvarez Sauras, M L; Lasarte Velillas, J J; Moreno Aznar, L A; Rodríguez Martínez, G

    2014-07-01

    To identify socio-cultural, obstetric and perinatal characteristics associated with complete breastfeeding (CBF) during the first 4 months of age, depending on maternal origin. Socio-cultural, obstetric and perinatal aspects associated with breastfeeding depending on maternal origin were evaluated in a longitudinal study in a representative infant population from Aragon (n = 1452). The prevalence of CBF was higher in immigrant mothers than in those from Spain. CBF was maintained in 37.2% of mothers from Spain at 4 months, compared with 43% of immigrants (P=.039) (RR Spanish/immigrants=0.76; 95% CI: 0.58-0.99); at 6 months this occurred in 13.9% vs. 23.8%, respectively (P<.001) (RR Spanish/immigrants=0.52; 95% CI: 0.37-0.72). The factors associated with CBF at 4 months are different between both groups. Mothers born in Spain are older (P=.002), have higher academic level (P=.001), greater parity (P=.003), and a higher probability of vaginal delivery (P=.005); and their children have the highest anthropometric values at birth. However, in immigrant mothers, the maintenance of CBF was associated with a higher maternal body mass index and with working at home. In both groups, CBF remains more frequently in those mothers who do not smoke (P=.001). The prevalence of CBF during the first months of life is higher in immigrant mothers than in those from Spain, and socio-cultural, obstetric and perinatal factors are different, depending on maternal origin. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  12. Longitudinal associations between objective sleep and lipids: the CARDIA study.

    Science.gov (United States)

    Petrov, Megan E Ruiter; Kim, Yongin; Lauderdale, Diane; Lewis, Cora E; Reis, Jared P; Carnethon, Mercedes R; Knutson, Kristen; Glasser, Stephen J

    2013-11-01

    To investigate the longitudinal relationships between actigraph-derived sleep duration, fragmentation, and lipid levels. Longitudinal data from the Coronary Artery Risk Development in Young Adults Sleep Study (2003-05), an observational cohort at the Chicago site. There were 503 black and white adults, ages 32-51 years, with no prior history of cardiovascular disease. N/A. Sleep duration and fragmentation were measured using 6 days of wrist actigraphy. Sleep quality was measured with the Pittsburgh Sleep Quality Index. The outcome variables, measured at 3 examinations over 10 years (Baseline [2000-01], 5-year [2005-06], and 10-year follow-up [2010-11]), were total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL), triglycerides (TG), and TC/HDL ratio. The associations between each sleep parameter and 10-year change in lipids were analyzed with generalized estimating equation models adjusting for relevant confounders. After adjustment, each hour increase in sleep duration was significantly associated with higher TC (5.2 mg/dL, 95%CI: 1.7, 8.6) and LDL (3.4 mg/dL, 95%CI: 0.2, 6.6) in the total sample, a 1.1 mg/dL increase in TG (95%CI: 1.0, 1.1) among men, and a borderline significant greater odds for a TC/HDL ratio ≥ 5 among men (OR: 1.37, 95%CI: 0.99, 1.90). Overall, sleep fragmentation and sleep quality scores were not associated with change in lipids. Beyond relevant covariates, over a 10-year follow-up, longer objective sleep duration was longitudinally and significantly associated with a poorer lipid profile. Greater objective sleep fragmentation and self-reported poor sleep quality were not related to a poorer lipid profile.

  13. A STUDY OF ASSOCIATION OF FLUOROQUINOLONES IN TENDINITIS AND ASSOCIATED COMPLICATIONS

    Directory of Open Access Journals (Sweden)

    Aakash Jaiswal

    2017-04-01

    Full Text Available BACKGROUND Fluoroquinolones are the quinolone antimicrobials, which are known to have one or more fluorine substitutions. The first generation fluoroquinolones, which was introduced in 1980s have one fluoro substitution. This was very affective in cases of gram-negative bacterias. 1 In the 1990s, compounds with additional fluoro and other substitutions have been developed further extending antimicrobial activity to gram-positive cocci and also anaerobes, which also has higher metabolic stability. 2,3,4 It also has a higher half-life. These are referred to as second generation fluoroquinolones. The first generation fluoroquinolone includes norfloxacin, ciprofloxacin, ofloxacin and pefloxacin. Second generation fluoroquinolone includes levofloxacin, lomefloxacin, sparfloxacin, moxifloxacin, gemifloxacin and prulifloxacin. The present topic of controversy is tendinopathy and tendon rupture induced by fluoroquinolone. There is enough data, which suggest that fluoroquinolones should be used with utmost care in population of patients. That means, not all the patients with gram-negative infections can be given this antibiotic as it has its own side effects. The first one to publish report was that of a fifty-six-year-old patient who had urinary tract infection and was treated with norfloxacin. The patient developed Achilles tendinopathy and the associated rupture was reported in New Zealand in the year 1983. Subsequently, there were many other case reports and case-controlled studies reporting similar findings. Fluoroquinolone are commonly prescribed to treat community-acquired infections involving the respiratory, urogenital and gastrointestinal tracts. Fluoroquinolone concentration is seen on a higher scale in bones and joints when compared to the serum levels. So, it is ideal to treat the bones and joint infections. The cartilage infections is also treated with fluoroquinolone. Achilles tendinitis or rupture is among the most serious side effects

  14. Genome-wide association study of colorectal cancer in Hispanics

    Science.gov (United States)

    Schmit, Stephanie L.; Schumacher, Fredrick R.; Edlund, Christopher K.; Conti, David V.; Ihenacho, Ugonna; Wan, Peggy; Van Den Berg, David; Casey, Graham; Fortini, Barbara K.; Lenz, Heinz-Josef; Tusié-Luna, Teresa; Aguilar-Salinas, Carlos A.; Moreno-Macías, Hortensia; Huerta-Chagoya, Alicia; Ordóñez-Sánchez, María Luisa; Rodríguez-Guillén, Rosario; Cruz-Bautista, Ivette; Rodríguez-Torres, Maribel; Muñóz-Hernández, Linda Liliana; Arellano-Campos, Olimpia; Gómez, Donají; Alvirde, Ulices; González-Villalpando, Clicerio; González-Villalpando, María Elena; Le Marchand, Loic; Haiman, Christopher A.; Figueiredo, Jane C.

    2016-01-01

    Genome-wide association studies (GWAS) have identified 58 susceptibility alleles across 37 regions associated with the risk of colorectal cancer (CRC) with P < 5×10−8. Most studies have been conducted in non-Hispanic whites and East Asians; however, the generalizability of these findings and the potential for ethnic-specific risk variation in Hispanic and Latino (HL) individuals have been largely understudied. We describe the first GWAS of common genetic variation contributing to CRC risk in HL (1611 CRC cases and 4330 controls). We also examine known susceptibility alleles and implement imputation-based fine-mapping to identify potential ethnicity-specific association signals in known risk regions. We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10−6) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47–2.36); P = 2.5×10−7], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21–1.55); P = 4.0×10−7), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36–2.01); P = 4.1×10−7) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37–2.08); P=7.8×10−7]. Among the 57 previously published CRC susceptibility alleles with minor allele frequency ≥1%, 76.5% of SNPs had a consistent direction of effect and 19 (33.3%) were nominally statistically significant (P < 0.05). Further, rs185423955 and rs60892987 were identified as novel secondary susceptibility variants at 3q26.2 (P = 5.3×10–5) and 11q12.2 (P = 6.8×10−5), respectively. Our findings demonstrate the importance of fine mapping in HL. These results are informative for variant prioritization in functional studies and future risk prediction modeling in minority populations. PMID:27207650

  15. Genome Wide Association Study Identifies New Loci Associated with Undesired Coat Color Phenotypes in Saanen Goats.

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    Pauline Marie Martin

    Full Text Available This paper reports a quantitative genetics and genomic analysis of undesirable coat color patterns in goats. Two undesirable coat colors have routinely been recorded for the past 15 years in French Saanen goats. One fifth of Saanen females have been phenotyped "pink" (8.0% or "pink neck" (11.5% and consequently have not been included in the breeding program as elite animals. Heritability of the binary "pink" and "pink neck" phenotype, estimated from 103,443 females was 0.26 for "pink" and 0.21 for "pink neck". Genome wide association studies (using haplotypes or single SNPs were implemented using a daughter design of 810 Saanen goats sired by 9 Artificial Insemination bucks genotyped with the goatSNP50 chip. A highly significant signal (-log10pvalue = 10.2 was associated with the "pink neck" phenotype on chromosome 11, suggesting the presence of a major gene. Highly significant signals for the "pink" phenotype were found on chromosomes 5 and 13 (-log10p values of 7.2 and, 7.7 respectively. The most significant SNP on chromosome 13 was in the ASIP gene region, well known for its association with coat color phenotypes. Nine significant signals were also found for both traits. The highest signal for each trait was detected by both single SNP and haplotype approaches, whereas the smaller signals were not consistently detected by the two methods. Altogether these results demonstrated a strong genetic control of the "pink" and "pink neck" phenotypes in French Saanen goats suggesting that SNP information could be used to identify and remove undesired colored animals from the breeding program.

  16. Association of croup with asthma in children: A cohort study.

    Science.gov (United States)

    Lin, Sheng-Chieh; Lin, Hui-Wen; Chiang, Bor-Luen

    2017-09-01

    Asthma and croup are common inflammatory airway diseases involving the bronchus in children. However, no study has reported the effects of urbanization, sex, age, and bronchiolitis on the association of croup and its duration with asthma development. We used the Taiwan Longitudinal Health Insurance Database (LHID) to perform this population-based cohort study; here, the cluster effect caused by hospitalization was considered to evaluate the association between croup and asthma development and the risk factors for asthma in children of different age groups. We evaluated children with croup aged asthma during the 5-year follow-up period. During the 5-year follow-up period, the hazard ratios (HRs [95% CIs]) for asthma were 2.10 (1.81-2.44) in all children with croup, 2.13 (1.85-2.46) in those aged 0 to 5 years, and 2.22 (1.87-2.65) in those aged 6 to 12 years. Children with croup aged 7 to 9 years had a higher HR for asthma than did those in other age groups. Boys with croup had a higher HR for asthma. The adjusted HR for asthma was 1.78 times higher in children with croup living in urban areas than in those living in rural areas. In conclusion, our analyses indicated that sex, age, bronchiolitis, and urbanization level are significantly associated with croup and asthma development. According to our cumulative hazard rate curves, younger children with croup should be closely monitored for asthma development for at least 3 years.

  17. A genome-wide association study of anorexia nervosa

    Science.gov (United States)

    Boraska, Vesna; Franklin, Christopher S; Floyd, James AB; Thornton, Laura M; Huckins, Laura M; Southam, Lorraine; Rayner, N William; Tachmazidou, Ioanna; Klump, Kelly L; Treasure, Janet; Lewis, Cathryn M; Schmidt, Ulrike; Tozzi, Federica; Kiezebrink, Kirsty; Hebebrand, Johannes; Gorwood, Philip; Adan, Roger AH; Kas, Martien JH; Favaro, Angela; Santonastaso, Paolo; Fernández-Aranda, Fernando; Gratacos, Monica; Rybakowski, Filip; Dmitrzak-Weglarz, Monika; Kaprio, Jaakko; Keski-Rahkonen, Anna; Raevuori, Anu; Van Furth, Eric F; Landt, Margarita CT Slof-Op t; Hudson, James I; Reichborn-Kjennerud, Ted; Knudsen, Gun Peggy S; Monteleone, Palmiero; Kaplan, Allan S; Karwautz, Andreas; Hakonarson, Hakon; Berrettini, Wade H; Guo, Yiran; Li, Dong; Schork, Nicholas J.; Komaki, Gen; Ando, Tetsuya; Inoko, Hidetoshi; Esko, Tõnu; Fischer, Krista; Männik, Katrin; Metspalu, Andres; Baker, Jessica H; Cone, Roger D; Dackor, Jennifer; DeSocio, Janiece E; Hilliard, Christopher E; O'Toole, Julie K; Pantel, Jacques; Szatkiewicz, Jin P; Taico, Chrysecolla; Zerwas, Stephanie; Trace, Sara E; Davis, Oliver SP; Helder, Sietske; Bühren, Katharina; Burghardt, Roland; de Zwaan, Martina; Egberts, Karin; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Herzog, Wolfgang; Imgart, Hartmut; Scherag, André; Scherag, Susann; Zipfel, Stephan; Boni, Claudette; Ramoz, Nicolas; Versini, Audrey; Brandys, Marek K; Danner, Unna N; de Kovel, Carolien; Hendriks, Judith; Koeleman, Bobby PC; Ophoff, Roel A; Strengman, Eric; van Elburg, Annemarie A; Bruson, Alice; Clementi, Maurizio; Degortes, Daniela; Forzan, Monica; Tenconi, Elena; Docampo, Elisa; Escaramís, Geòrgia; Jiménez-Murcia, Susana; Lissowska, Jolanta; Rajewski, Andrzej; Szeszenia-Dabrowska, Neonila; Slopien, Agnieszka; Hauser, Joanna; Karhunen, Leila; Meulenbelt, Ingrid; Slagboom, P Eline; Tortorella, Alfonso; Maj, Mario; Dedoussis, George; Dikeos, Dimitris; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Tsitsika, Artemis; Papezova, Hana; Slachtova, Lenka; Martaskova, Debora; Kennedy, James L.; Levitan, Robert D.; Yilmaz, Zeynep; Huemer, Julia; Koubek, Doris; Merl, Elisabeth; Wagner, Gudrun; Lichtenstein, Paul; Breen, Gerome; Cohen-Woods, Sarah; Farmer, Anne; McGuffin, Peter; Cichon, Sven; Giegling, Ina; Herms, Stefan; Rujescu, Dan; Schreiber, Stefan; Wichmann, H-Erich; Dina, Christian; Sladek, Rob; Gambaro, Giovanni; Soranzo, Nicole; Julia, Antonio; Marsal, Sara; Rabionet, Raquel; Gaborieau, Valerie; Dick, Danielle M; Palotie, Aarno; Ripatti, Samuli; Widén, Elisabeth; Andreassen, Ole A; Espeseth, Thomas; Lundervold, Astri; Reinvang, Ivar; Steen, Vidar M; Le Hellard, Stephanie; Mattingsdal, Morten; Ntalla, Ioanna; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Navratilova, Marie; Gallinger, Steven; Pinto, Dalila; Scherer, Stephen; Aschauer, Harald; Carlberg, Laura; Schosser, Alexandra; Alfredsson, Lars; Ding, Bo; Klareskog, Lars; Padyukov, Leonid; Finan, Chris; Kalsi, Gursharan; Roberts, Marion; Logan, Darren W; Peltonen, Leena; Ritchie, Graham RS; Barrett, Jeffrey C; Estivill, Xavier; Hinney, Anke; Sullivan, Patrick F; Collier, David A; Zeggini, Eleftheria; Bulik, Cynthia M

    2015-01-01

    Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2,907 cases with AN from 14 countries (15 sites) and 14,860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery datasets. Seventy-six (72 independent) SNPs were taken forward for in silico (two datasets) or de novo (13 datasets) replication genotyping in 2,677 independent AN cases and 8,629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication datasets comprised 5,551 AN cases and 21,080 controls. AN subtype analyses (1,606 AN restricting; 1,445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01×10-7) in SOX2OT and rs17030795 (P=5.84×10-6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76×10-6) between CUL3 and FAM124B and rs1886797 (P=8.05×10-6) near SPATA13. Comparing discovery to replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P=4×10-6), strongly suggesting that true findings exist but that our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field. PMID:24514567

  18. A genome-wide association study of anorexia nervosa.

    Science.gov (United States)

    Boraska, V; Franklin, C S; Floyd, J A B; Thornton, L M; Huckins, L M; Southam, L; Rayner, N W; Tachmazidou, I; Klump, K L; Treasure, J; Lewis, C M; Schmidt, U; Tozzi, F; Kiezebrink, K; Hebebrand, J; Gorwood, P; Adan, R A H; Kas, M J H; Favaro, A; Santonastaso, P; Fernández-Aranda, F; Gratacos, M; Rybakowski, F; Dmitrzak-Weglarz, M; Kaprio, J; Keski-Rahkonen, A; Raevuori, A; Van Furth, E F; Slof-Op 't Landt, M C T; Hudson, J I; Reichborn-Kjennerud, T; Knudsen, G P S; Monteleone, P; Kaplan, A S; Karwautz, A; Hakonarson, H; Berrettini, W H; Guo, Y; Li, D; Schork, N J; Komaki, G; Ando, T; Inoko, H; Esko, T; Fischer, K; Männik, K; Metspalu, A; Baker, J H; Cone, R D; Dackor, J; DeSocio, J E; Hilliard, C E; O'Toole, J K; Pantel, J; Szatkiewicz, J P; Taico, C; Zerwas, S; Trace, S E; Davis, O S P; Helder, S; Bühren, K; Burghardt, R; de Zwaan, M; Egberts, K; Ehrlich, S; Herpertz-Dahlmann, B; Herzog, W; Imgart, H; Scherag, A; Scherag, S; Zipfel, S; Boni, C; Ramoz, N; Versini, A; Brandys, M K; Danner, U N; de Kovel, C; Hendriks, J; Koeleman, B P C; Ophoff, R A; Strengman, E; van Elburg, A A; Bruson, A; Clementi, M; Degortes, D; Forzan, M; Tenconi, E; Docampo, E; Escaramís, G; Jiménez-Murcia, S; Lissowska, J; Rajewski, A; Szeszenia-Dabrowska, N; Slopien, A; Hauser, J; Karhunen, L; Meulenbelt, I; Slagboom, P E; Tortorella, A; Maj, M; Dedoussis, G; Dikeos, D; Gonidakis, F; Tziouvas, K; Tsitsika, A; Papezova, H; Slachtova, L; Martaskova, D; Kennedy, J L; Levitan, R D; Yilmaz, Z; Huemer, J; Koubek, D; Merl, E; Wagner, G; Lichtenstein, P; Breen, G; Cohen-Woods, S; Farmer, A; McGuffin, P; Cichon, S; Giegling, I; Herms, S; Rujescu, D; Schreiber, S; Wichmann, H-E; Dina, C; Sladek, R; Gambaro, G; Soranzo, N; Julia, A; Marsal, S; Rabionet, R; Gaborieau, V; Dick, D M; Palotie, A; Ripatti, S; Widén, E; Andreassen, O A; Espeseth, T; Lundervold, A; Reinvang, I; Steen, V M; Le Hellard, S; Mattingsdal, M; Ntalla, I; Bencko, V; Foretova, L; Janout, V; Navratilova, M; Gallinger, S; Pinto, D; Scherer, S W; Aschauer, H; Carlberg, L; Schosser, A; Alfredsson, L; Ding, B; Klareskog, L; Padyukov, L; Courtet, P; Guillaume, S; Jaussent, I; Finan, C; Kalsi, G; Roberts, M; Logan, D W; Peltonen, L; Ritchie, G R S; Barrett, J C; Estivill, X; Hinney, A; Sullivan, P F; Collier, D A; Zeggini, E; Bulik, C M

    2014-10-01

    Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for in silico (two data sets) or de novo (13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01 × 10(-7)) in SOX2OT and rs17030795 (P=5.84 × 10(-6)) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76 × 10(-)(6)) between CUL3 and FAM124B and rs1886797 (P=8.05 × 10(-)(6)) near SPATA13. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P=4 × 10(-6)), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field.

  19. A genome-wide association study of aging.

    Science.gov (United States)

    Walter, Stefan; Atzmon, Gil; Demerath, Ellen W; Garcia, Melissa E; Kaplan, Robert C; Kumari, Meena; Lunetta, Kathryn L; Milaneschi, Yuri; Tanaka, Toshiko; Tranah, Gregory J; Völker, Uwe; Yu, Lei; Arnold, Alice; Benjamin, Emelia J; Biffar, Reiner; Buchman, Aron S; Boerwinkle, Eric; Couper, David; De Jager, Philip L; Evans, Denis A; Harris, Tamara B; Hoffmann, Wolfgang; Hofman, Albert; Karasik, David; Kiel, Douglas P; Kocher, Thomas; Kuningas, Maris; Launer, Lenore J; Lohman, Kurt K; Lutsey, Pamela L; Mackenbach, Johan; Marciante, Kristin; Psaty, Bruce M; Reiman, Eric M; Rotter, Jerome I; Seshadri, Sudha; Shardell, Michelle D; Smith, Albert V; van Duijn, Cornelia; Walston, Jeremy; Zillikens, M Carola; Bandinelli, Stefania; Baumeister, Sebastian E; Bennett, David A; Ferrucci, Luigi; Gudnason, Vilmundur; Kivimaki, Mika; Liu, Yongmei; Murabito, Joanne M; Newman, Anne B; Tiemeier, Henning; Franceschini, Nora

    2011-11-01

    Human longevity and healthy aging show moderate heritability (20%-50%). We conducted a meta-analysis of genome-wide association studies from 9 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium for 2 outcomes: (1) all-cause mortality, and (2) survival free of major disease or death. No single nucleotide polymorphism (SNP) was a genome-wide significant predictor of either outcome (p < 5 × 10(-8)). We found 14 independent SNPs that predicted risk of death, and 8 SNPs that predicted event-free survival (p < 10(-5)). These SNPs are in or near genes that are highly expressed in the brain (HECW2, HIP1, BIN2, GRIA1), genes involved in neural development and function (KCNQ4, LMO4, GRIA1, NETO1) and autophagy (ATG4C), and genes that are associated with risk of various diseases including cancer and Alzheimer's disease. In addition to considerable overlap between the traits, pathway and network analysis corroborated these findings. These findings indicate that variation in genes involved in neurological processes may be an important factor in regulating aging free of major disease and achieving longevity.

  20. Bipolar disorder and the pseudoautosomal region: An association study

    Energy Technology Data Exchange (ETDEWEB)

    Parsian, A.; Todd, R.D. [Washington Univ. School of Medicine, St. Louis, MO (United States)

    1994-03-15

    From family, adoption, and twin studies it is clear that genetic factors play an important role in the etiology of bipolar disorder (McGuffin and Katz: The Biology of Depression, Gaskell, London, 1986). Recently Yoneda et al. reported an association between an allele (A4) of a VNTR marker (DXYS20) for the pseudoautosomal region and bipolar disorder in a Japanese population. In order to test for this association in a Caucasian population, we have typed a sample of 52 subjects with bipolar disorder and 61 normal controls. The bipolar subjects are probands of multiple incidence families. The normal controls are an epidemiologically ascertained sample of middle-aged, unrelated individuals. The two groups were matched for sex and ethnic background. There were no significant differences in the allele or genotype frequencies of DXYS20 between the two groups. In particular, there was no significant difference in the frequency of the A4 allele in normal controls and bipolar patients (0.377 vs. 0.317, respectively). The prevalence of the A4 allele in bipolar patients and normal controls was 0.567 and 0.622, respectively. We were not able to replicate the results of the 1992 Yoneda et al. study. 15 refs., 2 tabs.

  1. GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.

    Science.gov (United States)

    Uebe, Steffen; Pasutto, Francesca; Krumbiegel, Mandy; Schanze, Denny; Ekici, Arif B; Reis, André

    2010-09-21

    Most software packages for whole genome association studies are non-graphical, purely text based programs originally designed to run with UNIX-like operating systems. Graphical output is often not intended or supposed to be performed with other command line tools, e.g. gnuplot. Using the Microsoft .NET 2.0 platform and Visual Studio 2005, we have created a graphical software package to analyze data from microarray whole genome association studies, both for a DNA-pooling based approach as well as regular single sample data. Part of this package was made to integrate with GenePool 0.8.2, a previously existing software suite for GNU/Linux systems, which we have modified to run in a Microsoft Windows environment. Further modifications cause it to generate some additional data. This enables GenePool to interact with the .NET parts created by us. The programs we developed are GPFrontend, a graphical user interface and frontend to use GenePool and create metadata files for it, and GPGraphics, a program to further analyze and graphically evaluate output of different WGA analysis programs, among them also GenePool. Our programs enable regular MS Windows users without much experience in bioinformatics to easily visualize whole genome data from a variety of sources.

  2. An evolutionary framework for association testing in resequencing studies.

    Directory of Open Access Journals (Sweden)

    C Ryan King

    2010-11-01

    Full Text Available Sequencing technologies are becoming cheap enough to apply to large numbers of study participants and promise to provide new insights into human phenotypes by bringing to light rare and previously unknown genetic variants. We develop a new framework for the analysis of sequence data that incorporates all of the major features of previously proposed approaches, including those focused on allele counts and allele burden, but is both more general and more powerful. We harness population genetic theory to provide prior information on effect sizes and to create a pooling strategy for information from rare variants. Our method, EMMPAT (Evolutionary Mixed Model for Pooled Association Testing, generates a single test per gene (substantially reducing multiple testing concerns, facilitates graphical summaries, and improves the interpretation of results by allowing calculation of attributable variance. Simulations show that, relative to previously used approaches, our method increases the power to detect genes that affect phenotype when natural selection has kept alleles with large effect sizes rare. We demonstrate our approach on a population-based re-sequencing study of association between serum triglycerides and variation in ANGPTL4.

  3. GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

    Directory of Open Access Journals (Sweden)

    Schanze Denny

    2010-09-01

    Full Text Available Abstract Background Most software packages for whole genome association studies are non-graphical, purely text based programs originally designed to run with UNIX-like operating systems. Graphical output is often not intended or supposed to be performed with other command line tools, e.g. gnuplot. Results Using the Microsoft .NET 2.0 platform and Visual Studio 2005, we have created a graphical software package to analyze data from microarray whole genome association studies, both for a DNA-pooling based approach as well as regular single sample data. Part of this package was made to integrate with GenePool 0.8.2, a previously existing software suite for GNU/Linux systems, which we have modified to run in a Microsoft Windows environment. Further modifications cause it to generate some additional data. This enables GenePool to interact with the .NET parts created by us. The programs we developed are GPFrontend, a graphical user interface and frontend to use GenePool and create metadata files for it, and GPGraphics, a program to further analyze and graphically evaluate output of different WGA analysis programs, among them also GenePool. Conclusions Our programs enable regular MS Windows users without much experience in bioinformatics to easily visualize whole genome data from a variety of sources.

  4. AWS certified solutions architect official study guide associate exam

    CERN Document Server

    Baron, Joe; Bixler, Tim; Gaut, Biff; Kelly, Kevin E; Senior, Sean; Stamper, John

    2017-01-01

    This is your opportunity to take the next step in your career by expanding and validating your skills on the AWS cloud. AWS has been the frontrunner in cloud computing products and services, and the AWS Certified Solutions Architect Official Study Guide for the Associate exam will get you fully prepared through expert content, and real-world knowledge, key exam essentials, chapter review questions, access to Sybex's interactive online learning environment, and much more. This official study guide, written by AWS experts, covers exam concepts, and provides key review on exam topics, including: * Mapping Multi-Tier Architectures to AWS Services, such as web/app servers, firewalls, caches and load balancers * Understanding managed RDBMS through AWS RDS (MySQL, Oracle, SQL Server, Postgres, Aurora) * Understanding Loose Coupling and Stateless Systems * Comparing Different Consistency Models in AWS Services * Understanding how AWS CloudFront can make your application more cost efficient, faster and secure * Implem...

  5. Family Stigma Associated With Epilepsy: A Qualitative Study

    Science.gov (United States)

    Nabi Amjad, Reza; Nikbakht Nasrabadi, Alireza; Navab, Elham

    2017-01-01

    Introduction: Harmful nature of epilepsy can affect the patient and their parent. Stigma, arising from it, affects the patient and their family. To relieve it understanding the experiences of the parent are useful. This study was aimed at understanding the experiences of parent of child with epilepsy in Iran. Methods: In this interpretative phenomenological study, 10 parents who took care of their child with epilepsy were participated. Data were collected through in-depth semi-structured interviews. After transcription, data were analyzed using Van Manen’s method. Results: Family stigma emerged as a main theme in data analysis with three subthemes including becoming verbally abusive, a dull and heavy shadowed look, and associates interference. Conclusion: Family stigma is a major challenge for parents of child with epilepsy need to special attention by health system. Nurses, as a big part of the system, can play an important role to manage this problem. PMID:28299298

  6. Prevalence of obesity and associated cardiovascular risk: the DARIOS study.

    Science.gov (United States)

    Félix-Redondo, Francisco Javier; Grau, María; Baena-Díez, José Miguel; Dégano, Irene R; de León, Antonio Cabrera; Guembe, Maria Jesús; Alzamora, María Teresa; Vega-Alonso, Tomás; Robles, Nicolás R; Ortiz, Honorato; Rigo, Fernando; Mayoral-Sanchez, Eduardo; Tormo, Maria José; Segura-Fragoso, Antonio; Fernández-Bergés, Daniel

    2013-06-05

    To estimate the prevalence of overweight and obesity in the Spanish population as measured with body mass index (BMI), waist circumference (WC) and waist to height ratio (WHtR) and to determine the associated cardiovascular risk factors. Pooled analysis with individual data from 11 studies conducted in the first decade of the 21st century. Participants aged 35-74 years were asked about the history of cardiovascular diseases, hypertension, diabetes and hypercholesterolemia. Height, weight, WC, blood pressure, glycaemia, total cholesterol, low-density and high-density lipoprotein cholesterol and coronary risk were measured. The prevalence of overweight (BMI 25-29.9 kg/m(2)), general obesity (BMI ≥ 30 kg/m(2)), suboptimal WC (≥ 80 cm and European population. We included 28,743 individuals. The prevalence of overweight and suboptimal WC was 51% and 30% in men and 36% and 22% in women, respectively; general obesity was 28% in both sexes and abdominal obesity 36% in men and 55% in women. The prevalence of WHtR ≥0.5 was 89% and 77% in men and women, respectively. All cardiovascular risk factors were significantly associated with abnormal increased values of BMI, WC and WHtR. Hypertension showed the strongest association with overweight [OR = 1.99 (95% confidence interval 1.81-2.21) and OR = 2.10 (1.91-2.31)]; suboptimal WC [OR = 1.78 (1.60-1.97) and OR = 1.45 (1.26-1.66)], with general obesity [OR = 4.50 (4.02-5.04), and OR = 5.20 (4.70-5.75)] and with WHtR ≥0.5 [OR = 2.94 (2.52-3.43), and OR = 3.02 (2.66-3.42)] in men and women respectively, besides abdominal obesity in men only [OR = 3.51 (3.18-3.88)]. Diabetes showed the strongest association with abdominal obesity in women [OR = 3,86 (3,09-4,89). The prevalence of obesity in Spain was high. Overweight, suboptimal WC, general, abdominal obesity and WHtR ≥0.5 was significantly associated with diabetes, hypertension, hypercholesterolemia and coronary risk. The use of lower cut-off points for both BMI and

  7. STUDY OF ASSOCIATION OF DIABETIC MACULOPATHY WITH HYPERTENSION

    Directory of Open Access Journals (Sweden)

    Sivaramareddy

    2015-12-01

    Full Text Available BACKGROUND Diabetic retinopathy is a leading cause of blindness in adults and is unique in displaying a uniform epidemiology profile worldwide. Diabetic maculopathy is the most common microvascular complication in diabetes which can produce severe visual loss. Apart from diabetes, a number of systemic factor like hypertension, has an important role in occurrence and progression of DME. Thus control of these factors along with control of blood sugars can prevent or reverse the maculopathy and there by restore the vision of diabetic patients. OBJECTIVE To study the association of diabetic maculopathy with hypertension and to highlight the effect of this factor on onset and/or progression of diabetic maculopathy. METHODS A cross sectional two group comparative study was carried out in 100 diabetic patients with retinopathy more than 18 years attending the department of ophthalmology (Katuri medical college in the period of September 2012 to April 2014. For all patients, visual acuity with Snellen’s chart, slit lamp examination, intraocular pressure by applanation tonometry, fundus examination with direct, indirect ophthalmoscopy and 90D lens was conducted. Patients were divided into 2 groups (group1-Retinopathy with maculopathy and group 2- retinopathy without maculopathy. A detailed history of duration of diabetes, type of treatment, hypertension, taken from the patient. The significance of the hypertension was compared in both the groups involved in the study. RESULTS In the present study of 100 patients diagnosed with diabetic retinopathy, majority were males (54% in study group and 58% in control group by age 51-60 years. There was no significant difference in the age and gender distribution among two groups. Majority of the patients in the both groups were on treatment with anti-hypertensives (64% in the study group and 74% in control group. In this study, the mean value of SBP and DBP were significantly higher in study group compared to

  8. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

    Directory of Open Access Journals (Sweden)

    Ayşe Demirkan

    Full Text Available Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034 on plasma levels of 24 sphingomyelins (SPM, 9 ceramides (CER, 57 phosphatidylcholines (PC, 20 lysophosphatidylcholines (LPC, 27 phosphatidylethanolamines (PE, and 16 PE-based plasmalogens (PLPE, as well as their proportions in each major class. This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88×10(-204 and 10 loci for sphingolipids (smallest P-value = 3.10×10(-57. After a correction for multiple comparisons (P-value<2.2×10(-9, we observed four novel loci significantly associated with phospholipids (PAQR9, AGPAT1, PKD2L1, PDXDC1 and two with sphingolipids (PLD2 and APOE explaining up to 3.1% of the variance. Further analysis of the top findings with respect to within class molar proportions uncovered three additional loci for phospholipids (PNLIPRP2, PCDH20, and ABDH3 suggesting their involvement in either fatty acid elongation/saturation processes or fatty acid specific turnover mechanisms. Among those, 14 loci (KCNH7, AGPAT1, PNLIPRP2, SYT9, FADS1-2-3, DLG2, APOA1, ELOVL2, CDK17, LIPC, PDXDC1, PLD2, LASS4, and APOE mapped into the glycerophospholipid and 12 loci (ILKAP, ITGA9, AGPAT1, FADS1-2-3, APOA1, PCDH20, LIPC, PDXDC1, SGPP1, APOE, LASS4, and PLD2 to the sphingolipid pathways. In large meta-analyses, associations between FADS1-2-3 and carotid intima media thickness, AGPAT1 and type 2 diabetes, and APOA1 and coronary artery disease were observed. In conclusion, our

  9. Comorbidities Associated with Obstructive Sleep Apnea: a Retrospective Study

    Science.gov (United States)

    Pinto, José Antonio; Ribeiro, Davi Knoll; Cavallini, Andre Freitas da Silva; Duarte, Caue; Freitas, Gabriel Santos

    2016-01-01

    Introduction Obstructive sleep apnea (OSA) is characterized by partial or complete recurrent upper airway obstruction during sleep. OSA brings many adverse consequences, such as hypertension, obesity, diabetes mellitus, cardiac and encephalic alterations, behavioral, among others, resulting in a significant source of public health care by generating a high financial and social impact. The importance of this assessment proves to be useful, because the incidence of patients with comorbidities associated with AOS has been increasing consistently and presents significant influence in natural disease history. Objective The objective of this study is to assess major comorbidities associated with obstructive sleep apnea (OSA) and prevalence in a group of patients diagnosed clinically and polysomnographically with OSA. Methods This is a retrospective study of 100 charts from patients previously diagnosed with OSA in our service between October 2010 and January 2013. Results We evaluated 100 patients with OSA (84 men and 16 women) with a mean age of 50.05 years (range 19–75 years). The prevalence of comorbidities were hypertension (39%), obesity (34%), depression (19%), gastroesophageal reflux disease (GERD) (18%), diabetes mellitus (15%), hypercholesterolemia (10%), asthma (4%), and no comorbidities (33%). Comorbidities occurred in 56.2% patients diagnosed with mild OSA, 67.6% with moderate OSA, and 70% of patients with severe OSA. Conclusion According to the current literature data and the values obtained in our paper, we can correlate through expressive values obesity with OSA and their apnea hypopnea index (AHI) values. However, despite significant prevalence of OSA with other comorbidities, our study could not render expressive significance values able to justify their correlations. PMID:27096019

  10. Comorbidities Associated with Obstructive Sleep Apnea: a Retrospective Study

    Directory of Open Access Journals (Sweden)

    Pinto, José Antonio

    2016-03-01

    Full Text Available Introduction Obstructive sleep apnea (OSA is characterized by partial or complete recurrent upper airway obstruction during sleep. OSA brings many adverse consequences, such as hypertension, obesity, diabetes mellitus, cardiac and encephalic alterations, behavioral, among others, resulting in a significant source of public health care by generating a high financial and social impact. The importance of this assessment proves to be useful, because the incidence of patients with comorbidities associated with AOS has been increasing consistently and presents significant influence in natural disease history. Objective The objective of this study is to assess major comorbidities associated with obstructive sleep apnea (OSA and prevalence in a group of patients diagnosed clinically and polysomnographically with OSA. Methods This is a retrospective study of 100 charts from patients previously diagnosed with OSA in our service between October 2010 and January 2013. Results We evaluated 100 patients with OSA (84 men and 16 women with a mean age of 50.05 years (range 19–75 years. The prevalence of comorbidities were hypertension (39%, obesity (34%, depression (19%, gastroesophageal reflux disease (GERD (18%, diabetes mellitus (15%, hypercholesterolemia (10%, asthma (4%, and no comorbidities (33%. Comorbidities occurred in 56.2% patients diagnosed with mild OSA, 67.6% with moderate OSA, and 70% of patients with severe OSA. Conclusion According to the current literature data and the values obtained in our paper, we can correlate through expressive values obesity with OSA and their apnea hypopnea index (AHI values. However, despite significant prevalence of OSA with other comorbidities, our study could not render expressive significance values able to justify their correlations.

  11. Tomographic Study of Ionospheric Effects Associated with a Solar Eclipse

    Institute of Scientific and Technical Information of China (English)

    Wu Xiong-bin; Xu Ji-sheng; Ma Shu-ying; Tian Mao

    2003-01-01

    This paper studies the ionospheric effects associ-ated with the solar eclipse of October 24th, 1995 by means of Computerized Ionospheric Tomography (CIT). Since the re-constructed profiles from experimental CIT are sporadically located in time, a time domain interpolation method based onSingular Value Decomposition (SVD) technique is proposed and applied to extract the ionospheric effects. The effects canbe extracted by comparison analysis between the interpolated CIT profiles of the eclipse days and that of the reference day that are time-aligned. A series of figs have been obtained showing the attenuation of photonization effect at low alti-tudes and the weakening of plasma's transportation process athigh altitudes, etc. The photonization effect recovered to nor-mal level soon after the last contact. The maximum electron density diminishing is observed about 2 h after the eclipse maximum and the effects seem vanished in the hours fol-lowed. Analysis on vertical TEC's latitudinal temporal variation gives similar conclusions.

  12. Study of enteropathogens associated with paediatric gastroen-teritis

    Institute of Scientific and Technical Information of China (English)

    Maysaa El; Sayed Zaki

    2009-01-01

    Objective:To determine the etiology of acute diarrhea in children under 5 years of age and to improve knowl-edge of the etiology of gastrointestinal pathogens using traditional and molecular diagnostic techniques.Meth-ods:Various common enteropathogens (viral,bacterial and parasites)associated with diarrhea were investiga-ted by conventional and molecular techniques (PCR)for verotoxin present in Escherichia coli in 218 children less than 5 years of age admitted to Mansoura University Children hospital-Egypt.Results:The occurrence of enteropathogens identified was as follows:E.coli O157∶H7 38.8% followed by Salmonella Spp 29.4%,Aero-monas 20% and Shigella Spp 11.8%.Rotavirus was found in of samples 17.1%.Rotavirus was statistically significant in age <2 years old.The commonest parasites found were E.histolytica followed by Enterobius ver-micularis,Giardia lambia,Hymenolepis nana and Ascaries.Shigella and Salmonella isolates were tested for their susceptibility to common antimicrobial agents and most of the isolates were resistant to ampicillin and tri-methoprim /sulfamethoxazole.Conculsion:This study demonstrated that rotavirus,E.coli O157∶H7,Salmo-nella Spp,and Aeromonas were significant enteropathogens.Rotavirus was significantly associated with infan-tile gastroenteritis.The results highlight the value of using a combination of traditional and PCR techniques in the diagnosis of enteropathogens related to acute gastroenteritis in children.

  13. Mechanism study of goldenseal-associated DNA damage.

    Science.gov (United States)

    Chen, Si; Wan, Liqing; Couch, Letha; Lin, Haixia; Li, Yan; Dobrovolsky, Vasily N; Mei, Nan; Guo, Lei

    2013-07-31

    Goldenseal has been used for the treatment of a wide variety of ailments including gastrointestinal disturbances, urinary tract disorders, and inflammation. The five major alkaloid constituents in goldenseal are berberine, palmatine, hydrastine, hydrastinine, and canadine. When goldenseal was evaluated by the National Toxicology Program (NTP) in the standard 2-year bioassay, goldenseal induced an increase in liver tumors in rats and mice; however, the mechanism of goldenseal-associated liver carcinogenicity remains unknown. In this study, the toxicity of the five goldenseal alkaloid constituents was characterized, and their toxic potencies were compared. As measured by the Comet assay and the expression of γ-H2A.X, berberine, followed by palmatine, appeared to be the most potent DNA damage inducer in human hepatoma HepG2 cells. Berberine and palmatine suppressed the activities of both topoisomerase (Topo) I and II. In berberine-treated cells, DNA damage was shown to be directly associated with the inhibitory effect of Topo II, but not Topo I by silencing gene of Topo I or Topo II. In addition, DNA damage was also observed when cells were treated with commercially available goldenseal extracts and the extent of DNA damage was positively correlated to the berberine content. Our findings suggest that the Topo II inhibitory effect may contribute to berberine- and goldenseal-induced genotoxicity and tumorigenicity.

  14. Genome-wide association study identifies five new schizophrenia loci.

    LENUS (Irish Health Repository)

    Ripke, Stephan

    2011-10-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 × 10(-11)) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)).

  15. Semantically enabling a genome-wide association study database

    Directory of Open Access Journals (Sweden)

    Beck Tim

    2012-12-01

    Full Text Available Abstract Background The amount of data generated from genome-wide association studies (GWAS has grown rapidly, but considerations for GWAS phenotype data reuse and interchange have not kept pace. This impacts on the work of GWAS Central – a free and open access resource for the advanced querying and comparison of summary-level genetic association data. The benefits of employing ontologies for standardising and structuring data are widely accepted. The complex spectrum of observed human phenotypes (and traits, and the requirement for cross-species phenotype comparisons, calls for reflection on the most appropriate solution for the organisation of human phenotype data. The Semantic Web provides standards for the possibility of further integration of GWAS data and the ability to contribute to the web of Linked Data. Results A pragmatic consideration when applying phenotype ontologies to GWAS data is the ability to retrieve all data, at the most granular level possible, from querying a single ontology graph. We found the Medical Subject Headings (MeSH terminology suitable for describing all traits (diseases and medical signs and symptoms at various levels of granularity and the Human Phenotype Ontology (HPO most suitable for describing phenotypic abnormalities (medical signs and symptoms at the most granular level. Diseases within MeSH are mapped to HPO to infer the phenotypic abnormalities associated with diseases. Building on the rich semantic phenotype annotation layer, we are able to make cross-species phenotype comparisons and publish a core subset of GWAS data as RDF nanopublications. Conclusions We present a methodology for applying phenotype annotations to a comprehensive genome-wide association dataset and for ensuring compatibility with the Semantic Web. The annotations are used to assist with cross-species genotype and phenotype comparisons. However, further processing and deconstructions of terms may be required to facilitate automatic

  16. Statistical study of seismicity associated with geothermal reservoirs in California

    Energy Technology Data Exchange (ETDEWEB)

    Hadley, D.M.; Cavit, D.S.

    1982-01-01

    Statistical methods are outlined to separate spatially, temporally, and magnitude-dependent portions of both the random and non-random components of the seismicity. The methodology employed compares the seismicity distributions with a generalized Poisson distribution. Temporally related events are identified by the distribution of the interoccurrence times. The regions studied to date include the Imperial Valley, Coso, The Geysers, Lassen, and the San Jacinto fault. The spatial characteristics of the random and clustered components of the seismicity are diffuse and appear unsuitable for defining the areal extent of the reservoir. However, from the temporal characteristics of the seismicity associated with these regions a general discriminant was constructed that combines several physical parameters for identifying the presence of a geothermal system.

  17. Tomographic Study of Ionospheric Effects Associated with a Solar Eclipse

    Institute of Scientific and Technical Information of China (English)

    WuXiong-bin; XuJi-sheng; MaShu-ying; TianMao

    2003-01-01

    This paper studies the ionospheric effects associated with the solar eclipse of October 24th, 1995 by means of Computerized Ionospheric Tomography (CIT). Since the reconstructed profiles from experimental CIT are sporadically located in time, a time domain interpolation method based on Singular Value Decomposition (SVD) technique is proposed and applied to extract the ionospheric effects. The effects can be extracted by comparison analysis between the interpolated CIT profiles of the eclipse days and that of the reference day that are time-aligned. A series of figs have been obtained showing the attenuation of photonization effect at low altitudes and the weakening of plasma's transportation process at high altitudes, etc. The photonization effect recovered to normal level soon after the last contact. The maximum electron density diminishing is observed about 2 h after the eclipse maximum and the effects seem vanished in the hours followed. Analysis on vertical TEC's latitudinal-temporal variation gives similar conclusions.

  18. Interleukin-1 gene complex in schizophrenia: an association study.

    Science.gov (United States)

    Saiz, Pilar A; Garcia-Portilla, Maria P; Arango, Celso; Morales, Blanca; Martinez-Barrondo, Sara; Alvarez, Victoria; Coto, Eliecer; Fernandez, Juan; Bousono, Manuel; Bobes, Julio

    2006-09-01

    The aim of this study is to investigate the association between three polymorphisms of the interleukin-1 (IL-1) gene complex and schizophrenia. We genotyped 228 outpatients with schizophrenia (DSM-IV criteria) and 419 unrelated healthy controls. The following polymorphisms were analyzed: IL-1alpha -889 C/T, IL-1beta +3953 C/T, and IL-1RA (86 bp)n. No significant differences in genotype or in allelic distribution of the Il-1alpha, IL-1beta, and IL-1RA polymorphisms were found. Estimated haplotype frequencies were similar in both groups. Our data do not suggest that genetically determined changes in the IL-1 gene complex confer increased susceptibility for schizophrenia.

  19. Community-Associated Methicillin-Resistant Staphylococcus aureus Case Studies

    Science.gov (United States)

    Sowash, Madeleine G.; Uhlemann, Anne-Catrin

    2014-01-01

    Over the past decade, the emergence of community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has changed the landscape of S. aureus infections around the globe. Initially recognized for its ability to cause disease in young and healthy individuals without healthcare exposures as well as for its distinct genotype and phenotype, this original description no longer fully encompasses the diversity of CA-MRSA as it continues to expand its niche. Using four case studies, we highlight a wide range of the clinical presentations and challenges of CA-MRSA. Based on these cases we further explore the globally polygenetic background of CA-MRSA with a special emphasis on generally less characterized populations. PMID:24085688

  20. Sequence imputation of HPV16 genomes for genetic association studies.

    Directory of Open Access Journals (Sweden)

    Benjamin Smith

    Full Text Available BACKGROUND: Human Papillomavirus type 16 (HPV16 causes over half of all cervical cancer and some HPV16 variants are more oncogenic than others. The genetic basis for the extraordinary oncogenic properties of HPV16 compared to other HPVs is unknown. In addition, we neither know which nucleotides vary across and within HPV types and lineages, nor which of the single nucleotide polymorphisms (SNPs determine oncogenicity. METHODS: A reference set of 62 HPV16 complete genome sequences was established and used to examine patterns of evolutionary relatedness amongst variants using a pairwise identity heatmap and HPV16 phylogeny. A BLAST-based algorithm was developed to impute complete genome data from partial sequence information using the reference database. To interrogate the oncogenic risk of determined and imputed HPV16 SNPs, odds-ratios for each SNP were calculated in a case-control viral genome-wide association study (VWAS using biopsy confirmed high-grade cervix neoplasia and self-limited HPV16 infections from Guanacaste, Costa Rica. RESULTS: HPV16 variants display evolutionarily stable lineages that contain conserved diagnostic SNPs. The imputation algorithm indicated that an average of 97.5±1.03% of SNPs could be accurately imputed. The VWAS revealed specific HPV16 viral SNPs associated with variant lineages and elevated odds ratios; however, individual causal SNPs could not be distinguished with certainty due to the nature of HPV evolution. CONCLUSIONS: Conserved and lineage-specific SNPs can be imputed with a high degree of accuracy from limited viral polymorphic data due to the lack of recombination and the stochastic mechanism of variation accumulation in the HPV genome. However, to determine the role of novel variants or non-lineage-specific SNPs by VWAS will require direct sequence analysis. The investigation of patterns of genetic variation and the identification of diagnostic SNPs for lineages of HPV16 variants provides a valuable

  1. Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

    NARCIS (Netherlands)

    Natarajan, Pradeep; Bis, Joshua C; Bielak, Lawrence F; Cox, Amanda J; Dörr, Marcus; Feitosa, Mary F; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; Isaacs, Aaron; Jhun, Min A; Kavousi, Maryam; Li-Gao, Ruifang; Lyytikäinen, Leo-Pekka; Marioni, Riccardo E; Schminke, Ulf; Stitziel, Nathan O; Tada, Hayato; van Setten, Jessica; Smith, Albert V; Vojinovic, Dina; Yanek, Lisa R; Yao, Jie; Yerges-Armstrong, Laura M; Amin, Najaf; Baber, Usman; Borecki, Ingrid B; Carr, J Jeffrey; Chen, Yii-Der Ida; Cupples, L Adrienne; de Jong, Pim A; de Koning, Harry; de Vos, Bob D; Demirkan, Ayse; Fuster, Valentin; Franco, Oscar H; Goodarzi, Mark O; Harris, Tamara B; Heckbert, Susan R; Heiss, Gerardo; Hoffmann, Udo; Hofman, Albert; Išgum, Ivana; Jukema, J Wouter; Kähönen, Mika; Kardia, Sharon L R; Kral, Brian G; Launer, Lenore J; Massaro, Joseph; Mehran, Roxana; Mitchell, Braxton D; Mosley, Thomas H; de Mutsert, Renée; Newman, Anne B; Nguyen, Khanh-Dung; North, Kari E; O'Connell, Jeffrey R; Oudkerk, Matthijs; Pankow, James S; Peloso, Gina M; Post, Wendy; Province, Michael A; Raffield, Laura M; Raitakari, Olli T; Reilly, Dermot F; Rivadeneira, Fernando; Rosendaal, Frits; Sartori, Samantha; Taylor, Kent D; Teumer, Alexander; Trompet, Stella; Turner, Stephen T; Uitterlinden, André G; Vaidya, Dhananjay; van der Lugt, Aad; Völker, Uwe; Wardlaw, Joanna M; Wassel, Christina L; Weiss, Stefan; Wojczynski, Mary K; Becker, Diane M; Becker, Lewis C; Boerwinkle, Eric; Bowden, Donald W; Deary, Ian J; Dehghan, Abbas; Felix, Stephan B; Gudnason, Vilmundur; Lehtimäki, Terho; Mathias, Rasika; Mook-Kanamori, Dennis O; Psaty, Bruce M; Rader, Daniel J; Rotter, Jerome I; Wilson, James G; van Duijn, Cornelia M; Völzke, Henry; Kathiresan, Sekar; Peyser, Patricia A; O'Donnell, Christopher J

    2016-01-01

    BACKGROUND: -The burden of subclinical atherosclerosis in asymptomatic individuals is heritable and associated with elevated risk of developing clinical coronary heart disease (CHD). We sought to identify genetic variants in protein-coding regions associated with subclinical atherosclerosis and the

  2. Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

    NARCIS (Netherlands)

    Natarajan, Pradeep; Bis, Joshua C; Bielak, Lawrence F; Cox, Amanda J; Dörr, Marcus; Feitosa, Mary F; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; Isaacs, Aaron; Jhun, Min A; Kavousi, Maryam; Li-Gao, Ruifang; Lyytikäinen, Leo-Pekka; Marioni, Riccardo E; Schminke, Ulf; Stitziel, Nathan O; Tada, Hayato; van Setten, Jessica|info:eu-repo/dai/nl/345493990; Smith, Albert V; Vojinovic, Dina; Yanek, Lisa R; Yao, Jie; Yerges-Armstrong, Laura M; Amin, Najaf; Baber, Usman; Borecki, Ingrid B; Carr, J Jeffrey; Chen, Yii-Der Ida; Cupples, L Adrienne; de Jong, Pim A|info:eu-repo/dai/nl/287955672; de Koning, Harry; de Vos, Bob D; Demirkan, Ayse; Fuster, Valentin; Franco, Oscar H; Goodarzi, Mark O; Harris, Tamara B; Heckbert, Susan R; Heiss, Gerardo; Hoffmann, Udo; Hofman, Albert; Išgum, Ivana|info:eu-repo/dai/nl/31484984X; Jukema, J Wouter; Kähönen, Mika; Kardia, Sharon L R; Kral, Brian G; Launer, Lenore J; Massaro, Joseph; Mehran, Roxana; Mitchell, Braxton D; Mosley, Thomas H; de Mutsert, Renée; Newman, Anne B; Nguyen, Khanh-Dung; North, Kari E; O'Connell, Jeffrey R; Oudkerk, Matthijs; Pankow, James S; Peloso, Gina M; Post, Wendy; Province, Michael A; Raffield, Laura M; Raitakari, Olli T; Reilly, Dermot F; Rivadeneira, Fernando; Rosendaal, Frits; Sartori, Samantha; Taylor, Kent D; Teumer, Alexander; Trompet, Stella; Turner, Stephen T; Uitterlinden, André G; Vaidya, Dhananjay; van der Lugt, Aad; Völker, Uwe; Wardlaw, Joanna M; Wassel, Christina L; Weiss, Stefan; Wojczynski, Mary K; Becker, Diane M; Becker, Lewis C; Boerwinkle, Eric; Bowden, Donald W; Deary, Ian J; Dehghan, Abbas; Felix, Stephan B; Gudnason, Vilmundur; Lehtimäki, Terho; Mathias, Rasika; Mook-Kanamori, Dennis O; Psaty, Bruce M; Rader, Daniel J; Rotter, Jerome I; Wilson, James G; van Duijn, Cornelia M; Völzke, Henry; Kathiresan, Sekar; Peyser, Patricia A; O'Donnell, Christopher J

    2016-01-01

    BACKGROUND: -The burden of subclinical atherosclerosis in asymptomatic individuals is heritable and associated with elevated risk of developing clinical coronary heart disease (CHD). We sought to identify genetic variants in protein-coding regions associated with subclinical atherosclerosis and the

  3. A genome-wide association study of pulmonary function measures in the Framingham Heart Study.

    Directory of Open Access Journals (Sweden)

    Jemma B Wilk

    2009-03-01

    Full Text Available The ratio of forced expiratory volume in one second to forced vital capacity (FEV(1/FVC is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 Framingham Heart Study participants to identify single-nucleotide polymorphisms (SNPs associated with the FEV(1/FVC ratio, analyzed as a percent of the predicted value. Identified SNPs were examined in an independent set of 835 Family Heart Study participants enriched for airflow obstruction. Four SNPs in tight linkage disequilibrium on chromosome 4q31 were associated with the percent predicted FEV(1/FVC ratio with p-values of genome-wide significance in the Framingham sample (best p-value = 3.6e-09. One of the four chromosome 4q31 SNPs (rs13147758; p-value 2.3e-08 in Framingham was genotyped in the Family Heart Study and produced evidence of association with the same phenotype, percent predicted FEV(1/FVC (p-value = 2.0e-04. The effect estimates for association in the Framingham and Family Heart studies were in the same direction, with the minor allele (G associated with higher FEV(1/FVC ratio levels. Results from the Family Heart Study demonstrated that the association extended to FEV(1 and dichotomous airflow obstruction phenotypes, particularly among smokers. The SNP rs13147758 was associated with the percent predicted FEV(1/FVC ratio in independent samples from the Framingham and Family Heart Studies producing a combined p-value of 8.3e-11, and this region of chromosome 4 around 145.68 megabases was associated with COPD in three additional populations reported in the accompanying manuscript. The associated SNPs do not lie within a gene transcript but are near the hedgehog-interacting protein (HHIP gene and several expressed sequence tags cloned from fetal lung. Though it is unclear what gene or regulatory effect explains the association, the region warrants further investigation.

  4. A strategy analysis for genetic association studies with known inbreeding

    Directory of Open Access Journals (Sweden)

    del Giacco Stefano

    2011-07-01

    Full Text Available Abstract Background Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees. This type of studies has been very successful in the case of Mendelian monogenic disorders while it has been less successful in identifying genetic variants related to complex diseases where the insurgence depends on the interactions between different genes and the environment. The current technology allows to genotype more than a million of markers and this number has been rapidly increasing in the last years with the imputation based on templates sets and whole genome sequencing. This type of data introduces a great amount of noise in the statistical analysis and usually requires a great number of samples. Current methods seldom take into account gene-gene and gene-environment interactions which are fundamental especially in complex diseases. In this paper we propose to use a non-parametric additive model to detect the genetic variants related to diseases which accounts for interactions of unknown order. Although this is not new to the current literature, we show that in an isolated population, where the most related subjects share also most of their genetic code, the use of additive models may be improved if the available genealogical tree is taken into account. Specifically, we form a sample of cases and controls with the highest inbreeding by means of the Hungarian method, and estimate the set of genes/environmental variables, associated with the disease, by means of Random Forest. Results We have evidence, from statistical theory, simulations and two applications, that we build a suitable procedure to eliminate stratification between cases and controls and that it also has enough precision in identifying genetic variants responsible for a disease. This procedure has been successfully used for the beta-thalassemia, which is

  5. Epigenome-Wide Association Study of Tic Disorders.

    Science.gov (United States)

    Zilhão, Nuno R; Padmanabhuni, Shanmukha S; Pagliaroli, Luca; Barta, Csaba; Smit, Dirk J A; Cath, Danielle; Nivard, Michel G; Baselmans, Bart M L; van Dongen, Jenny; Paschou, Peristera; Boomsma, Dorret I

    2015-12-01

    Tic disorders are moderately heritable common psychiatric disorders that can be highly troubling, both in childhood and in adulthood. In this study, we report results obtained in the first epigenome-wide association study (EWAS) of tic disorders. The subjects are participants in surveys at the Netherlands Twin Register (NTR) and the NTR biobank project. Tic disorders were measured with a self-report version of the Yale Global Tic Severity Scale Abbreviated version (YGTSS-ABBR), included in the 8th wave NTR data collection (2008). DNA methylation data consisted of 411,169 autosomal methylation sites assessed by the Illumina Infinium HumanMethylation450 BeadChip Kit (HM450k array). Phenotype and DNA methylation data were available in 1,678 subjects (mean age = 41.5). No probes reached genome-wide significance (p tic disorders. The top significantly enriched gene ontology (GO) terms among higher ranking methylation sites included anatomical structure morphogenesis (GO:0009653, p = 4.6 × 10-(15)) developmental process (GO:0032502, p = 2.96 × 10(-12)), and cellular developmental process (GO:0048869, p = 1.96 × 10(-12)). Overall, these results provide a first insight into the epigenetic mechanisms of tic disorders. This first study assesses the role of DNA methylation in tic disorders, and it lays the foundations for future work aiming to unravel the biological mechanisms underlying the architecture of this disorder.

  6. Systematics of flux tubes in the dual Ginzburg-Landau theory and Casimir scaling hypothesis: folklore and lattice facts

    CERN Document Server

    Koma, Y

    2003-01-01

    The ratios between the string tensions sigma sub D of color-electric flux tubes in higher and fundamental SU(3) representations, d sub D ident to sigma sub D /sigma sub 3 , are systematically studied in a Weyl symmetric formulation of the DGL theory. The ratio is found to depend on the Ginzburg-Landau (GL) parameter, kappa ident to m subchi/m sub B , the mass ratio between the monopoles (m subchi) and the masses of the dual gauge bosons (m sub B). While the ratios d sub D follow a simple flux counting rule in the Bogomol'nyi limit, kappa=1.0, systematic deviations appear with increasing kappa due to interactions between the fundamental flux inside a higher representation flux tube. We find that in a type-II dual superconducting vacuum near kappa= 3.0 this leads to a consistent description of the ratios d sub D as observed in lattice QCD simulations. (orig.)

  7. Genome-wide Association Study of Personality Traits in the Long Life Family Study

    Directory of Open Access Journals (Sweden)

    Harold T Bae

    2013-05-01

    Full Text Available Personality traits have been shown to be associated with longevity and healthy aging. In order to discover novel genetic modifiers associated with personality traits as related with longevity, we performed a genome-wide association study (GWAS on personality factors assessed by NEO-FFI in individuals enrolled in the Long Life Family Study (LLFS, a study of 583 families (N up to 4595 with clustering for longevity in the United States and Denmark. Three SNPs, in almost perfect LD, associated with agreeableness reached genome-wide significance (p<10-8 and replicated in an additional sample of 1279 LLFS subjects, although one (rs9650241 failed to replicate and the other two were not available in two independent replication cohorts, the Baltimore Longitudinal Study of Aging and the New England Centenarian Study. Based on 10,000,000 permutations, the empirical p-value of 2X10-7 was observed for the genome-wide significant SNPs. Seventeen SNPs that reached marginal statistical significance in the two previous GWASs (p-value < 10-4 and 10-5, were also marginally significantly associated in this study (p-value < 0.05, although none of the associations passed the Bonferroni correction. In addition, we tested age-by-SNP interactions and found some significant associations. Since scores of personality traits in LLFS subjects change in the oldest ages, and genetic factors outweigh environmental factors to achieve extreme ages, these age-by-SNP interactions could be a proxy for complex gene-gene interactions affecting personality traits and longevity.

  8. Adult Learning Open University Determinants study (ALOUD): physical activity associated with study success

    NARCIS (Netherlands)

    Gijselaers, Jérôme; De Groot, Renate; Kirschner, Paul A.

    2013-01-01

    Gijselaers, H. J. M., De Groot, R. H. M., & Kirschner, P. A. (2013, 23 May). Adult Learning Open University Determinants study (ALOUD): physical activity associated with study success. Poster presentation at the annual meeting of the International Society for Behaviour on Nutrition and Physical Acti

  9. Systematics of flux tubes in the dual Ginzburg-Landau theory and Casimir scaling hypothesis: folklore and lattice facts

    Energy Technology Data Exchange (ETDEWEB)

    Koma, Y. [Institute for Theoretical Physics, Kanazawa University, Kanazawa, Ishikawa 920-1192 (Japan); Koma, M. [Research Center for Nuclear Physics (RCNP), Osaka University, Mihogaoka 10-1, Ibaraki, Osaka 567-0047 (Japan)

    2003-01-01

    The ratios between the string tensions {sigma}{sub D} of color-electric flux tubes in higher and fundamental SU(3) representations, d{sub D} {identical_to}{sigma}{sub D}/{sigma}{sub 3}, are systematically studied in a Weyl symmetric formulation of the DGL theory. The ratio is found to depend on the Ginzburg-Landau (GL) parameter, {kappa}{identical_to}m{sub {chi}}/m{sub B}, the mass ratio between the monopoles (m{sub {chi}}) and the masses of the dual gauge bosons (m{sub B}). While the ratios d{sub D} follow a simple flux counting rule in the Bogomol'nyi limit, {kappa}=1.0, systematic deviations appear with increasing {kappa} due to interactions between the fundamental flux inside a higher representation flux tube. We find that in a type-II dual superconducting vacuum near {kappa}= 3.0 this leads to a consistent description of the ratios d{sub D} as observed in lattice QCD simulations. (orig.)

  10. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

    DEFF Research Database (Denmark)

    Yang, Xiaohong R; Chang-Claude, Jenny; Goode, Ellen L;

    2011-01-01

    Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors.......Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors....

  11. Methylome-wide Association Study of Atrial Fibrillation in Framingham Heart Study

    Science.gov (United States)

    Lin, Honghuang; Yin, Xiaoyan; Xie, Zhijun; Lunetta, Kathryn L.; Lubitz, Steven A.; Larson, Martin G.; Ko, Darae; Magnani, Jared W.; Mendelson, Michael M.; Liu, Chunyu; McManus, David D.; Levy, Daniel; Ellinor, Patrick T.; Benjamin, Emelia J.

    2017-01-01

    Atrial fibrillation (AF) is the most common cardiac arrhythmia, but little is known about the molecular mechanisms associated with AF arrhythmogenesis. DNA methylation is an important epigenetic mechanism that regulates gene expression and downstream biological processes. We hypothesize that DNA methylation might play an important role in the susceptibility to develop AF. A total of 2,639 participants from the Offspring Cohort of Framingham Heart Study were enrolled in the current study. These participants included 183 participants with prevalent AF and 220 with incident AF during up to 9 years follow up. Genome-wide methylation was profiled using the Illumina Infinium HumanMethylation450 BeadChip on blood-derived DNA collected during the eighth examination cycle (2005–2008). Two CpG sites were significantly associated with prevalent AF, and five CpGs were associated with incident AF after correction for multiple testing (FDR < 0.05). Fourteen previously reported genome-wide significant AF-related SNP were each associated with at least one CpG site; the most significant association was rs6490029 at the CUX2 locus and cg10833066 (P = 9.5 × 10−279). In summary, we performed genome-wide methylation profiling in a community-based cohort and identified seven methylation signatures associated with AF. Our study suggests that DNA methylation might play an important role in AF arrhythmogenesis. PMID:28067321

  12. [Pregnancy-Associated Breast Cancer: An analytical observational study].

    Science.gov (United States)

    Baulies, Sonia; Cusidó, Maite; Tresserra, Francisco; Rodríguez, Ignacio; Ubeda, Belén; Ara, Carmen; Fábregas, Rafael

    2014-03-04

    Pregnancy-associated breast cancer is defined as breast cancer diagnosed during pregnancy and up to one year postpartum. A retrospective, analytical, observational study comparing 56 cases of breast cancer and pregnancy (PABC) diagnosed 1976-2008 with 73 patients with breast cancer not associated with pregnancy (non-PABC) was performed. Demographic data, prognostic factors, treatment and survival were reviewed and compared. The prevalence of PABC in our center is 8.3/10,000. The highest frequency (62%) appeared during the postpartum period. The stages are higher in PABC, being 31.3% advanced (EIII and EIV) in PABC versus 13.3% in non-PABC (P < .05). Regarding prognostic factors, 27.3% in PABC had a tumoral grade 3 versus 15.8% of non-PABC. Among women with PABC, 33.3% had negative estrogen receptors, 48.7% negative progesterone receptors and 34.5% positive Her2Neu compared with 22.2, 24.1 and 31%, respectively of non-PABC patients. Finally, positive lymph nodes were found in 52.8% of PABC, versus 33.8% non-PABC (P < .05). Overall and disease-free survival rate at 5 years for PABC was 63.7 and 74.2%, respectively. The poorer survival observed is possibly due to the presence of adverse prognostic features such as lymph node metastases, negative hormone receptors, tumoral grade iii, as well as a delay in diagnosis with a higher rate of advanced stages. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  13. Genome-Wide Association Study of Schizophrenia in Japanese Population

    Science.gov (United States)

    Yamada, Kazuo; Iwayama, Yoshimi; Hattori, Eiji; Iwamoto, Kazuya; Toyota, Tomoko; Ohnishi, Tetsuo; Ohba, Hisako; Maekawa, Motoko; Kato, Tadafumi; Yoshikawa, Takeo

    2011-01-01

    Schizophrenia is a devastating neuropsychiatric disorder with genetically complex traits. Genetic variants should explain a considerable portion of the risk for schizophrenia, and genome-wide association study (GWAS) is a potentially powerful tool for identifying the risk variants that underlie the disease. Here, we report the results of a three-stage analysis of three independent cohorts consisting of a total of 2,535 samples from Japanese and Chinese populations for searching schizophrenia susceptibility genes using a GWAS approach. Firstly, we examined 115,770 single nucleotide polymorphisms (SNPs) in 120 patient-parents trio samples from Japanese schizophrenia pedigrees. In stage II, we evaluated 1,632 SNPs (1,159 SNPs of p<0.01 and 473 SNPs of p<0.05 that located in previously reported linkage regions). The second sample consisted of 1,012 case-control samples of Japanese origin. The most significant p value was obtained for the SNP in the ELAVL2 [(embryonic lethal, abnormal vision, Drosophila)-like 2] gene located on 9p21.3 (p = 0.00087). In stage III, we scrutinized the ELAVL2 gene by genotyping gene-centric tagSNPs in the third sample set of 293 family samples (1,163 individuals) of Chinese descent and the SNP in the gene showed a nominal association with schizophrenia in Chinese population (p = 0.026). The current data in Asian population would be helpful for deciphering ethnic diversity of schizophrenia etiology. PMID:21674006

  14. Genome-wide association study of schizophrenia in Japanese population.

    Directory of Open Access Journals (Sweden)

    Kazuo Yamada

    Full Text Available Schizophrenia is a devastating neuropsychiatric disorder with genetically complex traits. Genetic variants should explain a considerable portion of the risk for schizophrenia, and genome-wide association study (GWAS is a potentially powerful tool for identifying the risk variants that underlie the disease. Here, we report the results of a three-stage analysis of three independent cohorts consisting of a total of 2,535 samples from Japanese and Chinese populations for searching schizophrenia susceptibility genes using a GWAS approach. Firstly, we examined 115,770 single nucleotide polymorphisms (SNPs in 120 patient-parents trio samples from Japanese schizophrenia pedigrees. In stage II, we evaluated 1,632 SNPs (1,159 SNPs of p<0.01 and 473 SNPs of p<0.05 that located in previously reported linkage regions. The second sample consisted of 1,012 case-control samples of Japanese origin. The most significant p value was obtained for the SNP in the ELAVL2 [(embryonic lethal, abnormal vision, Drosophila-like 2] gene located on 9p21.3 (p = 0.00087. In stage III, we scrutinized the ELAVL2 gene by genotyping gene-centric tagSNPs in the third sample set of 293 family samples (1,163 individuals of Chinese descent and the SNP in the gene showed a nominal association with schizophrenia in Chinese population (p = 0.026. The current data in Asian population would be helpful for deciphering ethnic diversity of schizophrenia etiology.

  15. Incidence of Pneumonia After Videofluoroscopic Swallowing Study and Associated Factors.

    Science.gov (United States)

    Jo, Hannae; Park, Jung-Gyoo; Min, David; Park, Hee-Won; Kang, Eun Kyoung; Lee, Kun-Jai; Baek, Sora

    2016-02-01

    Pneumonia after videofluoroscopic swallow study (VFSS) is sometimes considered to be caused by aspiration during VFSS; however, to our knowledge, a relationship between these events has not been clearly investigated. The aim of this study was to assess the incidence of VFSS-related pneumonia and related factors. Overall, 696 VFSS cases were retrospectively reviewed. Cases in which blood culture was performed within 3 days after VFSS due to newly developed infectious signs were considered as post-VFSS infection cases. Pneumonia was suspected when there was some evidence of respiratory infectious signs in clinical, radiological, and laboratory findings. The underlying disease, clinical signs, and VFSS findings of the pneumonia group were assessed. Among 696 cases, pneumonia was diagnosed in 15 patients. The patients in the pneumonia group tended to be older and had higher aspiration rate on VFSS than those in the non-pneumonia group. In the pneumonia group, 2 patients showed no aspiration during VFSS. In 6 patients, pneumonia developed after massive aspiration of gastric content in 5 patients and inappropriate oral feeding with risk of aspiration before VFSS in 1 patient. Only 7 patients (1.0 %) were finally determined as having VFSS-related pneumonia. In conclusion, the 72-h incidence of VFSS-related pneumonia was 1.0 %. Old age and severity of swallowing difficulty are associated with occurrence of pneumonia.

  16. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    Science.gov (United States)

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  17. Highway Expenditures and Associated Customer Satisfaction: A Case Study

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    Alexander Paz

    2016-01-01

    Full Text Available This study analyzes the satisfaction of the Nevadans with respect to their highway transportation system and the corresponding expenditures of Nevada Department of Transportation (NDOT. A survey questionnaire was designed to capture the opinions of the Nevadans (customers about a number of characteristics of their transportation system. Data from the financial data warehouse of the NDOT was used to evaluate expenditures. Multinomial probit models were estimated to study the correlations between customers’ opinion and the government expenditures in transportation. The results indicate the customer satisfaction is decreasing with respect to traffic safety throughout Northwestern and Southern Nevada highways. In addition, users of Northwestern highways are more likely to be satisfied, compared to their counterparts, with increasing construction spending to reduce the time taken to complete construction projects. In Southern Nevada highways, customers’ satisfaction increases with the expenditures associated with reduction of congestion. These insights are examples of the conclusions that were obtained as a consequence of simultaneously considering customer satisfaction and the corresponding expenditures in transportation.

  18. Genome-wide association study of proneness to anger.

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    Eric Mick

    Full Text Available BACKGROUND: Community samples suggest that approximately 1 in 20 children and adults exhibit clinically significant anger, hostility, and aggression. Individuals with dysregulated emotional control have a greater lifetime burden of psychiatric morbidity, severe impairment in role functioning, and premature mortality due to cardiovascular disease. METHODS: With publically available data secured from dbGaP, we conducted a genome-wide association study of proneness to anger using the Spielberger State-Trait Anger Scale in the Atherosclerosis Risk in Communities (ARIC study (n = 8,747. RESULTS: Subjects were, on average, 54 (range 45-64 years old at baseline enrollment, 47% (n = 4,117 were male, and all were of European descent by self-report. The mean Angry Temperament and Angry Reaction scores were 5.8 ± 1.8 and 7.6 ± 2.2. We observed a nominally significant finding (p = 2.9E-08, λ = 1.027 - corrected pgc = 2.2E-07, λ = 1.0015 on chromosome 6q21 in the gene coding for the non-receptor protein-tyrosine kinase, Fyn. CONCLUSIONS: Fyn interacts with NDMA receptors and inositol-1,4,5-trisphosphate (IP3-gated channels to regulate calcium influx and intracellular release in the post-synaptic density. These results suggest that signaling pathways regulating intracellular calcium homeostasis, which are relevant to memory, learning, and neuronal survival, may in part underlie the expression of Angry Temperament.

  19. [Creativity and Character Traits of University Students: Transversal Association Study].

    Science.gov (United States)

    Santamaría, Hernando; Sánchez, Ricardo

    2012-06-01

    This study was carried out to assess the relationship between character traits and creativity in a sample of students from a public university in Bogotá. A random sample of 157 students from the Universidad Nacional de Colombia. The two instruments used for measuring character traits and creativity were the International Personality Disorder Examination (IPDE) and the Abbreviated Torrance Test for Adults (ATTA). Additional information about gender, psychopathological antecedents, current academic period and academic average have been recorded. Robust regression methods have been used to analyze the relationship between creativity and character traits. Creativity and narcissistic traits were associated. In a multivariate model, other variables showing a relationship with creativity were found, i.e., male gender, mental illness family antecedents, number of academic periods completed, and a high academic average. Relationship between creativity and narcissistic traits had not been reported in previous. Longitudinal studies using more accurate scales should be undertaken to determine the validity of these findings. Copyright © 2012 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  20. Study of Myelin Basic Protein Associated with Pediatric Systematic Epilepsy

    Institute of Scientific and Technical Information of China (English)

    Yang Sida; He Xin; Yang Yiyu; Zhu Huihua; He Dansha; Deng Weiyi

    2000-01-01

    Objective: To investigate the quantitative myelin basic protein (MBP) in cerebrospinal fluid (CSF) and serum in pediatric systematic epilepsy (SEP), study the relation between SEP and MBP, and the possibility predicating'the injury of myelin and blood-brain barrier (BBB) from pediatric SEP. Background: While tactors induced destroy of cerebral and Myelin, MBP was released out into CSF to increase its concentration. On the other hand, the BBB was involved to make serum MBP increased. The related studies had confirmed these viewpoints above. The test for quantitative MBP was recognized as the specific biochemical index, which diagnose if there is or not organic injury of cerebral and myelin. There was few reports about the studies of quantitative MBP in CSF and serum of EP, not mention to those published in domestic pediatric academia. Methods: 47 cases were studied during one month after the SEP attack, whose MBP in serum were quantitatively and 31 inside in CSF were also tested by easy MBP-ELISA method; the quantitative MBP in serum of 30 control cases and 10 in CSF were tested, too. Results: MBP values in CSF and serum of SEP pediatric patients were 2.95±0.61 ng/ml and 3.17±0.53 ng/ml; whereas 1.41 ±0.19 ng/ml and 1.30±0.04 ng/ml in control group. Both mean valves of MBP in CSF and serum in study group were significantly higher than control group (either P< 0.01). Discussion: In general, electrophysiological evidences supported the issue that epileptic episode was originated from abnormal electrical activities of nervous cells. Pathological studies revealed degeneration and necrosis of nerve existed in temporal epileptic focus, where there was morphological change of myelin. This study showed MBP values in CSF and serum of SEEP, during one month after attack, increased significantly; suggested there was changed component of MBP, while SEP could not be controled. Those above indicated the destroy of myelin, increasing of BBB permeability that induced its

  1. A study of Helicobacter pylori -associated gastritis patterns in Iraq and their association with strain virulence

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    Hussein Nawfal

    2009-01-01

    Full Text Available Background/Aim: Helicobacter pylori ( H. pylori infection causes peptic ulceration and gastric adenocarcinoma. In Iraq, gastric cancer is rare. We investigated whether infected adults had the antral-predominant pattern of H. pylori -associated gastritis, which does not predispose to cancer. Materials and Methods: We evaluated histopathological changes by the Sydney scoring system in gastric biopsies taken from 30 H. pylori -infected adults and studied the correlation of these changes with the virulence factors. The Mann-Whitney test was used for the comparison of histopathological data. The presence or absence of each pathological index was evaluated with respect to the possession of virulence factors by the infecting H. pylori strain using the χ2 test. Results: Gastric lymphocyte infiltration was more prominent in the antrum ( P = 0.01. Neutrophil infiltration was mild and gastric mucosal atrophy was rare. No relationship was found between virulence factors and histopathological changes. Conclusions: The mild pathology and antral-predominant gastritis help explain the low cancer rate in Iraq.

  2. Prevalence of anaemia associated with chronic obstructive pulmonary disease. Study of associated variables.

    Science.gov (United States)

    Comeche Casanova, Lorena; Echave-Sustaeta, Jose María; García Luján, Ricardo; Albarrán Lozano, Irene; Alonso González, Pablo; Llorente Alonso, María Jesús

    2013-09-01

    Anaemia is one of the extrapulmonary manifestations of chronic obstructive pulmonary disease (COPD). Its real prevalence, physiopathology and clinical repercussion are unknown. The objectives of our study were: to determine the prevalence of anaemia in patients with stable COPD not attributable to other causes and to establish the relationship of anaemia with clinical, prognostic and inflammatory markers with an important role in COPD. The study included stable COPD patients with no other known causes of anaemia. The following tests were carried out: respiratory function tests; serum determination of erythropoietin and inflammatory markers: high sensitivity C-reactive protein (hs-CRP), fibrinogen, interleukin 6 (IL-6), interleukin 8 (IL-8) and tumour necrosis factor α (TNF-α). Body mass index (BMI), Charlson and BODE indices, the number of exacerbations in the previous year, dyspnoea and quality of life were also calculated. One hundred and thirty patients were included. Anaemia prevalence was 6.2%. Mean haemoglobin value in anaemic patients was 11.9±0.95g/dL. Patients with anaemia had a lower BMI (P=.03), higher Charlson index (P=.002), more elevated erythropoietin levels (P=.016), a tendency to present a lower FEV1% value (P=.08) and significantly lower IL-6 values when compared to non-anaemic patients (P=.003). In our series, the anaemia associated with COPD was less prevalent than that published in the literature to date, and was related to certain clinical and inflammatory markers. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

  3. A identidade capixaba em questão: uma análise psicossocial The capixaba's identity in question: a psychosocial study

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    Aldemir Luiz Garcia

    2004-12-01

    Full Text Available Buscou-se o desenvolvimento de um estudo abarcando as representações sociais de professores sobre o folclore, verificando-se as conexões destas com a construção da identidade social. A pesquisa abarcou 32 docentes do ensino fundamental da rede pública municipal de Vitória. A coleta de dados realizou-se por meio de um questionário semi-estruturado que versou sobre temas relativos à problemática folclore capixaba e identidade. As questões estruturadas tiveram suas respostas tabuladas com o intuito de fornecerem dados quantitativos, já as respostas livres foram organizadas tendo em vista a construção de um corpus representacional que permitisse a aplicação de uma análise temática de conteúdo. Os resultados indicaram que os sujeitos associam o folclore à cultura espontânea e o caracterizam como o principal indicador de uma identidade social local (capixaba, que se constrói por meio da comunicação social, cotidianamente e constitui-se das tradições culturais em geral, tanto materiais quanto imateriais.Searched the development of a study on the social representations of teachers about the folklore, verifying the connections of these with the construction of the social identity. The research comprise 32 teachers of the basic education of the public municipal net of Vitória The collection of data was carried through by a half-structuralized questionnaire that turned on the problematic of folklore and identity. The structuralized questions had its answers tabulated with intention to supply quantitative information, already the free answers had been organized in view of the construction of a corpus that allowed the application of a thematic analysis of content. The results had indicated that teachers associate the folklore to the spontaneous culture and they characterize it as the main pointer of a local social identity (capixaba, that is constructed by means of the social communication, daily, and consists of the cultural

  4. Goitrogens And Goitre— A Clinicosocial Study Of Association

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    M Athar Ansari

    2003-06-01

    Full Text Available Research Problem : Is there any role of goitrogens in the causation of goitre?Objectives :    (1     To describe the intake of goitrogenic substances in goitrous and non-goitrous patients.(2 To find out the types and frequency of goitrogenic subtanccs in these patients.Study Design : Hospital-based Study by Questionnaire Method.                            •Setting : Endocrinology Out Patients Department, J.N.Medical college Hospital, A.M.U., Aligarh.Participants : Cases were patients having clinical features of iodine deficiency disorders (IDD and controls were not having goiter but they had other endocrinological disorders in the Endocrinology O.P.D. at J.N. Medical College Hospital, A.M.U., Aligarh.Study variables : Intake, type and frequency of goitrogenic substances.Outcome variables : Percentage of goitrous and nongoitrous patients consuming goitrogenic substances.Statistical Analysis : Chi-Square Test.Result : In goitrous patients, a dietary' history' of goitrogen intake was found in 93.85% patients while in nongoitrous patients, it was 76.92%, Commonly consumed vegetables having goitrogenic properties were Cabbage, Cauliflower and Lady’s finger. Intake was frequent (once a week in most of the goitrous patients while it was taken occasional (once fortnightly in most of the nongoitrous patients.Conclusion : Majority of the goitrous patients were consuming goitrogenic substances. Their role in the causation of goiter is clearly understood. However, for this further research activities should be carried out to find out the strength of association.

  5. Study of polypharmacy and associated problems among elderly patients

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    Shalini

    2012-01-01

    Full Text Available The study aims at the assessment of prescribing pattern for elderly patients, since they are more prone to prescription of multiple medications. The prescription of multiple medications leads to polypharmacy, more adverse drug reactions and non-adherence to treatment. The study was conducted on OPD basis in a rural health centre for a period of six months. Information pertaining to the age, sex, religion, monthly income, education level, any previous illnesses, or any chronic diseases, any drug treatment, adherence to the treatment, and self medication or non-allopathic treatment was collected. The study included 310 elderly patients, among which 51.9% were males and 48.1% were females. The prevalence of polypharmacy was 25.20%, more among elderly men (26.10% than women (24.20%, the odds ratio (OR was 1.11. The major fraction 35.81% of the patients was in the age group of 60-64 years. Only 59.3% were literate. 64.41% belonged to lower socioeconomic status. The cardiovascular diseases 139 (44.83 % followed by arthritis 121 (39.03%, and diabetes 58 (18.71% were the most common ailments. Anti-hypertensive drugs were prescribed in 26.13%, analgesics/antipyretics in 19.68%, and anti-diabetic drugs in 18.71%. Non-adherence to therapy was seen in 49.68%. Self medication habits were seen in 23.90% patients, who most commonly used analgesics/antipyretics and antacids/anti-ulcer drugs. Polypharmacy is very common among elderly and interventions to improve the optimal use of medication in elderly could lead to reduction in the problems associated with polypharmacy.

  6. An ecophysiological study of the Azolla filiculoides- Anabaena azollae association

    Science.gov (United States)

    van Kempen, Monique; Smolders, Fons; Speelman, Eveline; Reichart, Gert Jan; Barke, Judith; Brinkhuis, Henk; Lotter, Andy; Roelofs, Jan

    2010-05-01

    The long term effects of salinity stress on the growth, nutrient content and amino acid composition of the Azolla filiculoides - Anabaena azollae association was studied in a laboratory experiment. It was demonstrated that the symbiosis could tolerate salt stress up to 90 mM NaCl, even after a 100 day period of preconditioning at salt concentrations that were 30 mM NaCl lower. In the 120 mM NaCl treatment the Azolla filiculoides survived, but hardly any new biomass was produced. It was shown that during the experiment, A. filiculoides became increasingly efficient in excluding salt ions from the plant tissue and was thus able to increase its salt tolerance. The amino acid analysis revealed that the naturally occurring high glutamine concentration in the plants was strongly reduced at salt concentrations of 120 mM NaCl and higher. This was the result of the reduced nitrogenase activity at these salt concentrations, as was demonstrated in an acetylene reduction assay. We suggest that the high glutamine concentration in the plants might play a role in the osmoregulatory response against salt stress, enabling growth of the A. filiculoides -Anabaena azollae association up to 90 mM NaCl. In a mesocosm experiment it furthermore was demonstrated that Azolla might manipulate its own microenvironment when grown at elevated salt concentration (up to ~50 mmol•L-1) by promoting salinity stratification, especially when it has formed a dense cover at the water surface. Beside salt stress, we also studied the growth of Azolla filiculoides in response to elevated atmospheric carbon dioxide concentration, in combination with different light intensities and different pH of the nutrient solution. The results demonstrated that as compared to the control (ambient pCO2 concentrations), Azolla filiculoides was able to produce twice as much biomass at carbon dioxide concentrations that were five times as high as the ambient pCO2 concentration. However, it was also shown that this

  7. ‘Smoking Genes’: A Genetic Association Study

    Science.gov (United States)

    Rodríguez González-Moro, José Miguel; de Lucas Ramos, Pilar; López Martín, Soledad; Bandrés, Fernando; Lucia, Alejandro; Gómez-Gallego, Félix

    2011-01-01

    Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence) with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A) [rs1801272], CYP2A6*9 (−48T>G) [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T) [rs8192789], CYP2A13*3 (7520C>G), CYP2A13*4 (579G>A), CYP2A13*7 (578C>T) [rs72552266], CYP2B6*4 (785A>G), CYP2B6*9 (516G>T), CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A) [rs1800497], 5HTT LPR, HTR2A −1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126) and ethnically matched never smokers (controls, N = 80). The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A) polymorphisms was 3.60 (95%CI: 1.75, 7.44) and 2.63 (95%CI: 1.41, 4.89) respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65). We found a significant genotype effect (all P≤0.017) for the following smoking-related phenotypes: (i) cigarettes smoked per day and CYP2A13*3; (ii) pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A); (iii) nicotine dependence (assessed with the Fagestrom test) and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms) are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5), serotoninergic (HTR2A), opioid (OPRM1) or cannabinoid receptors (CNR1). PMID:22046326

  8. Study of acoustic correlates associate with emotional speech

    Science.gov (United States)

    Yildirim, Serdar; Lee, Sungbok; Lee, Chul Min; Bulut, Murtaza; Busso, Carlos; Kazemzadeh, Ebrahim; Narayanan, Shrikanth

    2004-10-01

    This study investigates the acoustic characteristics of four different emotions expressed in speech. The aim is to obtain detailed acoustic knowledge on how a speech signal is modulated by changes from neutral to a certain emotional state. Such knowledge is necessary for automatic emotion recognition and classification and emotional speech synthesis. Speech data obtained from two semi-professional actresses are analyzed and compared. Each subject produces 211 sentences with four different emotions; neutral, sad, angry, happy. We analyze changes in temporal and acoustic parameters such as magnitude and variability of segmental duration, fundamental frequency and the first three formant frequencies as a function of emotion. Acoustic differences among the emotions are also explored with mutual information computation, multidimensional scaling and acoustic likelihood comparison with normal speech. Results indicate that speech associated with anger and happiness is characterized by longer duration, shorter interword silence, higher pitch and rms energy with wider ranges. Sadness is distinguished from other emotions by lower rms energy and longer interword silence. Interestingly, the difference in formant pattern between [happiness/anger] and [neutral/sadness] are better reflected in back vowels such as /a/(/father/) than in front vowels. Detailed results on intra- and interspeaker variability will be reported.

  9. Suprathermal helium associated with corotating interaction regions: A case study

    Science.gov (United States)

    Yu, J.; Berger, L.; Wimmer-Schweingruber, R. F.; Hilchenbach, M.; Kallenbach, R.; Klecker, B.; Guo, J.

    2016-03-01

    Enhancements of suprathermal particles observed at 1AU often can be related to Corotating Interaction Regions (CIRs). The compression regions associated with CIRs and their driven shocks which typically form at a few AU distance to the Sun can efficiently accelerate particles. If accelerated at the trailing edge of a CIR these particles can travel sunward along the ambient magnetic field and thus enhanced fluxes can be observed even if the acceleration region has passed over the spacecraft. We have analysed a CIR that has been observed at L1 by ACE/SWICS and SOHO/CELIAS/STOF on days 207 and 208 in 2003. The combination of SWICS and STOF data allowed us to study suprathermal Helium ranging from its onset at solar wind bulk energies up to 330 keV/nuc. Here we present our results for the temporal evolution of the flux, energy spectra and the He+/He++ ratio. In particular we present observational evidence for a turnover of the energy spectra at lower energies after the CIR passage which has been theoretically predicted but never been observed so far.

  10. Genome-wide association study identifies 74 loci associated with educational attainment

    DEFF Research Database (Denmark)

    Okbay, Aysu; P. Beauchamp, Jonathan; Alan Fontana, Mark;

    2016-01-01

    -nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural...

  11. Discovering Folklore Through Community Resources.

    Science.gov (United States)

    Sumpter, Magdalena Benavides, Ed.

    The folkways and cultural heritage of the Mexican Americans of South Texas are explored in this volume which is designed to provide the student with the opportunity for cultural enrichment, oral language development, and vocabulary expansion. The first chapter deals with "Creencias" which are common beliefs handed down from generation to…

  12. Los pasos del folklore colombiano

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    Manuel Zapata Olivella

    1960-08-01

    Full Text Available Cuenta Fray Pedro Simón, el gran cronista de la Conquista, que cuando los feroces indios y urbacos (de Cartagena entraban en guazabaras o combates, lo hacían al son de potentes chirimías que exaltaban su valor y coraje en la lucha. Se puede afirmar con testimonios fidedignos, que las llamadas gaitas son las mismas flautas de los antiguos yurbacos. Las actuales tribus motilonas, que como aquellas son de origen caribe, confeccionan en igual forma estos instrumentos musicales.

  13. POLTERGEIST PHENOMENA IN CONTEMPORARY FOLKLORE

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    Oana VOICHICI

    2017-05-01

    Full Text Available The article deals with instances of the supernatural in Romanian urban legends, namely what we call the strigoi , or poltergeist. Usually, folklorists tend to exclude the supernatural f rom the category of urban legends, however we have decided to take these accounts into consideration based on the fact that the transmitter, the narrators do not distinguish between these elements and the rest of contemporary legends and today’s popular cu lture abounds in such accounts.

  14. Susceptibility to Chronic Mucus Hypersecretion, a Genome Wide Association Study

    DEFF Research Database (Denmark)

    Dijkstra, Akkelies E; Smolonska, Joanna; van den Berge, Maarten

    2014-01-01

    BACKGROUND: Chronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of sm...

  15. Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

    NARCIS (Netherlands)

    Natarajan, Pradeep; Bis, Joshua C.; Bielak, Lawrence F.; Cox, Amanda J.; Dorr, Marcus; Feitosa, Mary F.; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; Isaacs, Aaron; Jhun, Min A.; Kavousi, Maryam; Li-Gao, Ruifang; Lyytikainen, Leo-Pekka; Marioni, Riccardo E.; Schminke, Ulf; Stitziel, Nathan O.; Tada, Hayato; van Setten, Jessica; Smith, Albert V.; Vojinovic, Dina; Yanek, Lisa R.; Yao, Jie; Yerges-Armstrong, Laura M.; Amin, Najaf; Baber, Usman; Borecki, Ingrid B.; Carr, J. Jeffrey; Chen, Yii-Der Ida; Cupples, L. Adrienne; de Jong, Pim A.; de Koning, Harry; de Vos, Bob D.; Demirkan, Ayse; Fuster, Valentin; Franco, Oscar H.; Goodarzi, Mark O.; Harris, Tamara B.; Heckbert, Susan R.; Heiss, Gerardo; Hoffmann, Udo; Hofman, Albert; Isgum, Ivana; Jukema, J. Wouter; Kahonen, Mika; Kardia, Sharon L. R.; Kral, Brian G.; Launer, Lenore J.; Massaro, Joe; Mehran, Roxana; Mitchell, Braxton D.; Jr, Thomas H. Mosley; de Mutsert, Renee; Newman, Anne B.; Nguyen, Khanh-dung; North, Kari E.; O'Connell, Jeffrey R.; Oudkerk, Matthijs; Pankow, James S.; Peloso, Gina M.; Post, Wendy; Province, Michael A.; Raffield, Laura M.; Raitakari, Olli T.; Reilly, Dermot F.; Rivadeneira, Fernando; Rosendaal, Frits; Sartori, Samantha; Taylor, Kent D.; Teumer, Alexander; Trompet, Stella; Turner, Stephen T.; Uitterlinden, Andre G.; Vaidya, Dhananjay; van der Lugt, Aad; Volker, Uwe; Wardlaw, Joanna M.; Wassel, Christina L.; Weiss, Stefan; Wojczynski, Mary K.; Becker, Diane M.; Becker, Lewis C.; Boerwinkle, Eric; Bowden, Donald W.; Deary, Ian J.; Dehghan, Abbas; Felix, Stephan B.; Gudnason, Vilmundur; Lehtimaki, Terho; Mathias, Rasika; Mook-Kanamori, Dennis O.; Psaty, Bruce M.; Rader, Daniel J.; Rotter, Jerome I.; Wilson, James G.; van Duijn, Cornelia M.; Volzke, Henry; Kathiresan, Sekar; Peyser, Patricia A.; O'Donnell, Christopher J.

    2016-01-01

    Background-The burden of subclinical atherosclerosis in asymptomatic individuals is heritable and associated with elevated risk of developing clinical coronary heart disease. We sought to identify genetic variants in protein-coding regions associated with subclinical atherosclerosis and the risk of

  16. Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

    NARCIS (Netherlands)

    Natarajan, Pradeep; Bis, Joshua C.; Bielak, Lawrence F.; Cox, Amanda J.; Dorr, Marcus; Feitosa, Mary F.; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; Isaacs, Aaron; Jhun, Min A.; Kavousi, Maryam; Li-Gao, Ruifang; Lyytikainen, Leo-Pekka; Marioni, Riccardo E.; Schminke, Ulf; Stitziel, Nathan O.; Tada, Hayato; van Setten, Jessica; Smith, Albert V.; Vojinovic, Dina; Yanek, Lisa R.; Yao, Jie; Yerges-Armstrong, Laura M.; Amin, Najaf; Baber, Usman; Borecki, Ingrid B.; Carr, J. Jeffrey; Chen, Yii-Der Ida; Cupples, L. Adrienne; de Jong, Pim A.; de Koning, Harry; de Vos, Bob D.; Demirkan, Ayse; Fuster, Valentin; Franco, Oscar H.; Goodarzi, Mark O.; Harris, Tamara B.; Heckbert, Susan R.; Heiss, Gerardo; Hoffmann, Udo; Hofman, Albert; Isgum, Ivana; Jukema, J. Wouter; Kahonen, Mika; Kardia, Sharon L. R.; Kral, Brian G.; Launer, Lenore J.; Massaro, Joe; Mehran, Roxana; Mitchell, Braxton D.; Jr, Thomas H. Mosley; de Mutsert, Renee; Newman, Anne B.; Nguyen, Khanh-dung; North, Kari E.; O'Connell, Jeffrey R.; Oudkerk, Matthijs; Pankow, James S.; Peloso, Gina M.; Post, Wendy; Province, Michael A.; Raffield, Laura M.; Raitakari, Olli T.; Reilly, Dermot F.; Rivadeneira, Fernando; Rosendaal, Frits; Sartori, Samantha; Taylor, Kent D.; Teumer, Alexander; Trompet, Stella; Turner, Stephen T.; Uitterlinden, Andre G.; Vaidya, Dhananjay; van der Lugt, Aad; Volker, Uwe; Wardlaw, Joanna M.; Wassel, Christina L.; Weiss, Stefan; Wojczynski, Mary K.; Becker, Diane M.; Becker, Lewis C.; Boerwinkle, Eric; Bowden, Donald W.; Deary, Ian J.; Dehghan, Abbas; Felix, Stephan B.; Gudnason, Vilmundur; Lehtimaki, Terho; Mathias, Rasika; Mook-Kanamori, Dennis O.; Psaty, Bruce M.; Rader, Daniel J.; Rotter, Jerome I.; Wilson, James G.; van Duijn, Cornelia M.; Volzke, Henry; Kathiresan, Sekar; Peyser, Patricia A.; O'Donnell, Christopher J.

    2016-01-01

    Background-The burden of subclinical atherosclerosis in asymptomatic individuals is heritable and associated with elevated risk of developing clinical coronary heart disease. We sought to identify genetic variants in protein-coding regions associated with subclinical atherosclerosis and the risk of

  17. Association between cancer and contact allergy: a linkage study

    DEFF Research Database (Denmark)

    Engkilde, Kaare; Thyssen, Jacob P; Menné, Torkil

    2011-01-01

    and cancer, few have looked into the association between cancer and contact allergy, a type IV allergy. By linking two clinical databases, the authors investigate the possible association between contact allergy and cancer. Methods Record linkage of two different registers was performed: (1) a tertiary...... hospital register of dermatitis patients patch tested for contact allergy and (2) a nationwide cancer register (the Danish Cancer Register). After linking the two registers, only cancer subtypes with 40 or more patients registered were included in the analysis. The final associations were evaluated...... by logistic regression analysis. Results An inverse association between contact allergy and non-melanoma skin- and breast cancer, respectively, was identified in both sexes, and an inverse trend for brain cancer was found in women with contact allergy. Additionally, a positive association between contact...

  18. Association between cancer and contact allergy: a linkage study

    DEFF Research Database (Denmark)

    Engkilde, Kaare; Thyssen, Jacob P; Menné, Torkil

    2011-01-01

    hospital register of dermatitis patients patch tested for contact allergy and (2) a nationwide cancer register (the Danish Cancer Register). After linking the two registers, only cancer subtypes with 40 or more patients registered were included in the analysis. The final associations were evaluated...... by logistic regression analysis. Results An inverse association between contact allergy and non-melanoma skin- and breast cancer, respectively, was identified in both sexes, and an inverse trend for brain cancer was found in women with contact allergy. Additionally, a positive association between contact...... and cancer, few have looked into the association between cancer and contact allergy, a type IV allergy. By linking two clinical databases, the authors investigate the possible association between contact allergy and cancer. Methods Record linkage of two different registers was performed: (1) a tertiary...

  19. Association between diabetes and tuberculosis: case-control study.

    Science.gov (United States)

    Pereira, Susan Martins; Araújo, Gleide Santos de; Santos, Carlos Antônio de Souza Teles; Oliveira, Maeli Gomes de; Barreto, Maurício Lima

    2016-12-22

    To test the association between diabetes and tuberculosis. It is a case-control study, matched by age and sex. We included 323 new cases of tuberculosis with positive results for bacilloscopy. The controls were 323 respiratory symptomatic patients with negative bacilloscopy, from the same health services, such as: ambulatory cases from three referral hospitals and six basic health units responsible for the notifications of new cases of tuberculosis in Salvador, Bahia. Data collection occurred between 2008 and 2010. The instruments used were structured interview, including clinical data, capillary blood glucose (during fasting or postprandial), and the CAGE questionnaire for screening of abusive consumption of alcohol. Descriptive, exploratory, and multivariate analysis was performed using conditional logistic regression. The average age of the cases was 38.5 (SD = 14.2) years and of the controls, 38.5 (SD = 14.3) years. Among cases and controls, most subjects (61%) were male. In univariate analysis we found association between the occurrence of diabetes and tuberculosis (OR = 2.37; 95%CI 1.04-5.42), which remained statistically significant after adjustment for potential confounders (OR = 3.12; 95%CI 1.12-7.94). The association between diabetes and tuberculosis can hinder the control of tuberculosis, contributing to the maintainance of the disease burden. The situation demands increasing early detection of diabetes among people with tuberculosis, in an attempt to improve disease control strategies. Testar a associação entre diabetes e tuberculose. Trata-se de estudo caso-controle, pareado por idade e sexo. Foram incluídos 323 casos novos de tuberculose com resultados positivos à baciloscopia. Os controles foram 323 sintomáticos respiratórios com baciloscopia negativa, oriundos dos mesmos serviços de saúde dos casos: ambulatórios de três hospitais de referência e seis unidades básicas de saúde responsáveis pelas notificações dos casos novos de

  20. [Arteriovenous malformation-glioma association: study of four cases].

    Science.gov (United States)

    Borges, Lia Raquel R; Malheiros, Suzana M F; Pelaez, Maria Paula; Stávale, João Norberto; Santos, Adrialdo J; Carrete, Henrique; Nogueira, Roberto Gomes; Ferraz, Fernando A P; Gabbai, Alberto A

    2003-06-01

    We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years) presented with progressive headache with clinical evidence of intracranial hypertension (in 3) and partial seizures (in 1). CT scan showed a brain tumor without any detectable pathologic vessels. Histologic examination revealed astrocytic tumors associated with arteriovenous malformation. No patient presented the vascular component intermixed with the tumor. The arteriovenous-glioma association is rare and must be identified by a clear demarcation between the malformation and the tumor.

  1. Genome-wide association study identifies eight loci associated with blood pressure.

    Science.gov (United States)

    Newton-Cheh, Christopher; Johnson, Toby; Gateva, Vesela; Tobin, Martin D; Bochud, Murielle; Coin, Lachlan; Najjar, Samer S; Zhao, Jing Hua; Heath, Simon C; Eyheramendy, Susana; Papadakis, Konstantinos; Voight, Benjamin F; Scott, Laura J; Zhang, Feng; Farrall, Martin; Tanaka, Toshiko; Wallace, Chris; Chambers, John C; Khaw, Kay-Tee; Nilsson, Peter; van der Harst, Pim; Polidoro, Silvia; Grobbee, Diederick E; Onland-Moret, N Charlotte; Bots, Michiel L; Wain, Louise V; Elliott, Katherine S; Teumer, Alexander; Luan, Jian'an; Lucas, Gavin; Kuusisto, Johanna; Burton, Paul R; Hadley, David; McArdle, Wendy L; Brown, Morris; Dominiczak, Anna; Newhouse, Stephen J; Samani, Nilesh J; Webster, John; Zeggini, Eleftheria; Beckmann, Jacques S; Bergmann, Sven; Lim, Noha; Song, Kijoung; Vollenweider, Peter; Waeber, Gerard; Waterworth, Dawn M; Yuan, Xin; Groop, Leif; Orho-Melander, Marju; Allione, Alessandra; Di Gregorio, Alessandra; Guarrera, Simonetta; Panico, Salvatore; Ricceri, Fulvio; Romanazzi, Valeria; Sacerdote, Carlotta; Vineis, Paolo; Barroso, Inês; Sandhu, Manjinder S; Luben, Robert N; Crawford, Gabriel J; Jousilahti, Pekka; Perola, Markus; Boehnke, Michael; Bonnycastle, Lori L; Collins, Francis S; Jackson, Anne U; Mohlke, Karen L; Stringham, Heather M; Valle, Timo T; Willer, Cristen J; Bergman, Richard N; Morken, Mario A; Döring, Angela; Gieger, Christian; Illig, Thomas; Meitinger, Thomas; Org, Elin; Pfeufer, Arne; Wichmann, H Erich; Kathiresan, Sekar; Marrugat, Jaume; O'Donnell, Christopher J; Schwartz, Stephen M; Siscovick, David S; Subirana, Isaac; Freimer, Nelson B; Hartikainen, Anna-Liisa; McCarthy, Mark I; O'Reilly, Paul F; Peltonen, Leena; Pouta, Anneli; de Jong, Paul E; Snieder, Harold; van Gilst, Wiek H; Clarke, Robert; Goel, Anuj; Hamsten, Anders; Peden, John F; Seedorf, Udo; Syvänen, Ann-Christine; Tognoni, Giovanni; Lakatta, Edward G; Sanna, Serena; Scheet, Paul; Schlessinger, David; Scuteri, Angelo; Dörr, Marcus; Ernst, Florian; Felix, Stephan B; Homuth, Georg; Lorbeer, Roberto; Reffelmann, Thorsten; Rettig, Rainer; Völker, Uwe; Galan, Pilar; Gut, Ivo G; Hercberg, Serge; Lathrop, G Mark; Zelenika, Diana; Deloukas, Panos; Soranzo, Nicole; Williams, Frances M; Zhai, Guangju; Salomaa, Veikko; Laakso, Markku; Elosua, Roberto; Forouhi, Nita G; Völzke, Henry; Uiterwaal, Cuno S; van der Schouw, Yvonne T; Numans, Mattijs E; Matullo, Giuseppe; Navis, Gerjan; Berglund, Göran; Bingham, Sheila A; Kooner, Jaspal S; Connell, John M; Bandinelli, Stefania; Ferrucci, Luigi; Watkins, Hugh; Spector, Tim D; Tuomilehto, Jaakko; Altshuler, David; Strachan, David P; Laan, Maris; Meneton, Pierre; Wareham, Nicholas J; Uda, Manuela; Jarvelin, Marjo-Riitta; Mooser, Vincent; Melander, Olle; Loos, Ruth J F; Elliott, Paul; Abecasis, Gonçalo R; Caulfield, Mark; Munroe, Patricia B

    2009-06-01

    Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N ≤ 71,225 European ancestry, N ≤ 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N = 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10(-24)), CYP1A2 (P = 1 × 10(-23)), FGF5 (P = 1 × 10(-21)), SH2B3 (P = 3 × 10(-18)), MTHFR (P = 2 × 10(-13)), c10orf107 (P = 1 × 10(-9)), ZNF652 (P = 5 × 10(-9)) and PLCD3 (P = 1 × 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.

  2. A refined study of FCRL genes from a genome-wide association study for Graves' disease

    National Research Council Canada - National Science Library

    Zhao, Shuang-Xia; Liu, Wei; Zhan, Ming; Song, Zhi-Yi; Yang, Shao-Ying; Xue, Li-Qiong; Pan, Chun-Ming; Gu, Zhao-Hui; Liu, Bing-Li; Wang, Hai-Ning; Liang, Liming; Liang, Jun; Zhang, Xiao-Mei; Yuan, Guo-Yue; Li, Chang-Gui; Chen, Ming-Dao; Chen, Jia-Lun; Gao, Guan-Qi; Song, Huai-Dong

    2013-01-01

    To pinpoint the exact location of the etiological variant/s present at 1q21.1 harboring FCRL1-5 and CD5L genes, we carried out a refined association study in the entire FCRL region in 1,536 patients with Graves' disease (GD...

  3. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

    NARCIS (Netherlands)

    E. Evangelou (Evangelos); J.M. Kerkhof (Hanneke); U. Styrkarsdottir (Unnur); E.E. Ntzani (Evangelia); S.D. Bos (Steffan); T. Esko (Tõnu); D.S. Evans (Daniel); S. Metrustry (Sarah); K. Panoutsopoulou (Kalliope); Y.F.M. Ramos (Yolande); G. Thorleifsson (Gudmar); K.K. Tsilidis (Konstantinos); N.K. Arden (Nigel); N. Aslam (Nadim); N. Bellamy (Nicholas); F. Birrell (Fraser); F.J. Blanco; A.J. Carr (Andrew Jonathan); K. Chapman (Kay); A.G. Day-Williams (Aaron); P. Deloukas (Panagiotis); M. Doherty (Michael); G. Engström; H.T. Helgadottir (Hafdis); A. Hofman (Albert); T. Ingvarsson (Torvaldur); H. Jonsson (Helgi); A. Keis (Aime); J.C. Keurentjes (J. Christiaan); M. Kloppenburg (Margreet); P.A. Lind (Penelope); A. McCaskie (Andrew); N.G. Martin; A.L. Milani (Alfredo); G.W. Montgomery; R.G.H.H. Nelissen (Rob); M.C. Nevitt (Michael); P. Nilsson (Peter); W.E.R. Ollier (William); N. Parimi (Neeta); A. Rai (Ashok); S.H. Ralston; M.R. Reed (Mike); J.A. Riancho (José); F. Rivadeneira Ramirez (Fernando); C. Rodriguez-Fontenla (Cristina); L. Southam (Lorraine); U. Thorsteinsdottir (Unnur); A. Tsezou (Aspasia); G.A. Wallis (Gillian); J.M. Wilkinson (Mark); A. Gonzalez (Antonio); N.E. Lane; L.S. Lohmander (Stefan); J. Loughlin (John); A. Metspalu (Andres); A.G. Uitterlinden (André); I. Jonsdottir (Ingileif); J-A. Zwart (John-Anker); P.E. Slagboom (Eline); E. Zeggini (Eleftheria); I. Meulenbelt (Ingrid); J.P.A. Ioannidis (John); T.D. Spector (Timothy); J.B.J. van Meurs (Joyce); A.M. Valdes (Ana Maria)

    2013-01-01

    textabstractObjectives: Osteoarthritis (OA) is the most common form of arthritis with a clear genetic component. To identify novel loci associated with hip OA we performed a meta-analysis of genome-wide association studies (GWAS) on European subjects. Methods: We performed a two-stage meta-analysis

  4. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

    NARCIS (Netherlands)

    Rafnar, T.; Sulem, P.; Thorleifsson, G.; Vermeulen, S.; Helgason, H.; Saemundsdottir, J.; Gudjonsson, S.A.; Sigurdsson, A.; Stacey, S.N.; Gudmundsson, J.; Johannsdottir, H.; Alexiusdottir, K.; Petursdottir, V.; Nikulasson, S.; Geirsson, G.; Jonsson, T.; Aben, K.K.H.; Grotenhuis, A.J.; Verhaegh, G.W.C.T.; Dudek, A.M.D.; Witjes, J.A.; Heijden, A.G. van der; Vrieling, A.; Galesloot, T.E.; Juan, A. de; Panadero, A.; Rivera, F.; Hurst, C.; Bishop, D.T.; Sak, S.C.; Choudhury, A.; Teo, M.T.; Arici, C.; Carta, A.; Toninelli, E.; Verdier, P. de; Rudnai, P.; Gurzau, E; Koppova, K.; Keur, K.A. van der; Lurkin, I.; Goossens, M.; Kellen, E.; Guarrera, S.; Russo, A.; Critelli, R.; Sacerdote, C.; Vineis, P.; Krucker, C.; Zeegers, M.P.; Gerullis, H.; Ovsiannikov, D.; Volkert, F.; Hengstler, J.G.; Selinski, S.; Magnusson, O.T.; Masson, G.; Kong, A.; Gudbjartsson, D.; Lindblom, A.; Zwarthoff, E.; Porru, S.; Golka, K.; Buntinx, F.; Matullo, G.; Kumar, R.; Mayordomo, J.I.; Steineck, D.G.; Kiltie, A.E.; Jonsson, E.; Radvanyi, F.; Knowles, M.A.; Thorsteinsdottir, U.; Kiemeney, B.; Stefansson, K.

    2014-01-01

    Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC ca

  5. Loci associated with ischaemic stroke and its subtypes (SiGN) : A genome-wide association study

    NARCIS (Netherlands)

    Pulit, SL; Algra, A; de Bakker, Paul I W

    2016-01-01

    Background: The discovery of disease-associated loci through genome-wide association studies (GWAS) is the leading genetic approach to the identification of novel biological pathways underlying diseases in humans. Until recently, GWAS in ischaemic stroke have been limited by small sample sizes and

  6. Association of genetic variation with systolic and diastolic blood pressure among African Americans : the Candidate Gene Association Resource study

    NARCIS (Netherlands)

    Fox, Ervin R.; Young, J. Hunter; Li, Yali; Dreisbach, Albert W.; Keating, Brendan J.; Musani, Solomon K.; Liu, Kiang; Morrison, Alanna C.; Ganesh, Santhi; Kutlar, Abdullah; Ramachandran, Vasan S.; Polak, Josef F.; Fabsitz, Richard R.; Dries, Daniel L.; Farlow, Deborah N.; Redline, Susan; Adeyemo, Adebowale; Hirschorn, Joel N.; Sun, Yan V.; Wyatt, Sharon B.; Penman, Alan D.; Palmas, Walter; Rotter, Jerome I.; Townsend, Raymond R.; Doumatey, Ayo P.; Tayo, Bamidele O.; Mosley, Thomas H.; Lyon, Helen N.; Kang, Sun J.; Rotimi, Charles N.; Cooper, Richard S.; Franceschini, Nora; Curb, J. David; Martin, Lisa W.; Eaton, Charles B.; Kardia, Sharon L. R.; Taylor, Herman A.; Caulfield, Mark J.; Ehret, Georg B.; Johnson, Toby; Chakravarti, Aravinda; Zhu, Xiaofeng; Levy, Daniel

    2011-01-01

    The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is unkno

  7. Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

    DEFF Research Database (Denmark)

    Orr, Nick; Lemnrau, Alina; Cooke, Rosie

    2012-01-01

    We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P...

  8. Evaluating variations of genotype calling: a potential source of spurious associations in genome-wide association studies

    Indian Academy of Sciences (India)

    Xuixiao Hong; Zhenqiang Su; Weigong Ge; Leming Shi; Roger Perkins; Hong Fang; Donna Mendrick; Weida Tong

    2010-04-01

    Genome-wide association studies (GWAS) examine the entire human genome with the goal of identifying genetic variants (usually single nucleotide polymorphisms (SNPs)) that are associated with phenotypic traits such as disease status and drug response. The discordance of significantly associated SNPs for the same disease identified from different GWAS indicates that false associations exist in such results. In addition to the possible sources of spurious associations that have been investigated and discussed intensively, such as sample size and population stratification, an accurate and reproducible genotype calling algorithm is required for concordant GWAS results from different studies. However, variations of genotype calling of an algorithm and their effects on significantly associated SNPs identified in downstream association analyses have not been systematically investigated. In this paper, the variations of genotype calling using the Bayesian Robust Linear Model with Mahalanobis distance classifier (BRLMM) algorithm and the resulting influence on the lists of significantly associated SNPs were evaluated using the raw data of 270 HapMap samples analysed with the Affymetrix Human Mapping 500K Array Set (Affy500K) by changing algorithmic parameters. Modified were the Dynamic Model (DM) call confidence threshold (threshold) and the number of randomly selected SNPs (size). Comparative analysis of the calling results and the corresponding lists of significantly associated SNPs identified through association analysis revealed that algorithmic parameters used in BRLMM affected the genotype calls and the significantly associated SNPs. Both the threshold and the size affected the called genotypes and the lists of significantly associated SNPs in association analysis. The effect of the threshold was much larger than the effect of the size. Moreover, the heterozygous calls had lower consistency compared to the homozygous calls.

  9. A Genomewide Association Study of Early Spontaneous Preterm Delivery

    Science.gov (United States)

    Zhang, Heping; Baldwin, Don A.; Bukowski, Radek K.; Parry, Samuel; Xu, Yaji; Song, Chi; Andrews, William W.; Saade, George R.; Esplin, M. Sean; Sadovsky, Yoel; Reddy, Uma M.; Ilekis, John; Varner, Michael; Biggio, Joseph R.

    2015-01-01

    Preterm birth is the leading cause of infant morbidity and mortality. Despite extensive research, the genetic contributions to spontaneous preterm birth (SPTB) are not well understood. Term controls were matched with cases by race/ethnicity, maternal age, and parity prior to recruitment. Genotyping was performed using Affymetrix SNP Array 6.0 assays. Statistical analyses utilized PLINK to compare allele occurrence rates between case and control groups, and incorporated quality control and multiple-testing adjustments. We analyzed DNA samples from mother-infant pairs from early SPTB cases (200/7 to 336/7 weeks, 959 women and 979 neonates) and term delivery controls (390/7 to 416/7 weeks, 960 women and 985 neonates). For validation purposes, we included an independent validation cohort consisting of early SPTB cases (293 mothers and 243 infants) and term controls (200 mothers and 149 infants). Clustering analysis revealed no population stratification. Multiple maternal SNPs were identified with association p-values between 10E-5 and 10E-6. The most significant maternal SNP was rs17053026 on chromosome 3 with an odds ratio (OR) 0.44 with a p-value of 1.0E-06. Two neonatal SNPs reached the genome-wide significance threshold, including rs17527054 on chromosome 6p22 with a p-value of 2.7E-12 and rs3777722 on chromosome 6q27 with a p-value of 1.4E-10. However, we could not replicate these findings after adjusting for multiple comparisons in a validation cohort. This is the first report of a genomewide case-control study to identify single nucleotide polymorphisms (SNPs) that correlate with SPTB. PMID:25599974

  10. Study of Associated α Particle Imaging Technique for Explosives Detection

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    The explosive detecting technique about neutron mainly include the thermal neutron analysis (TNA), the fast neutron analysis (FNA), the pulse fast and thermal neutron analysis (PFTNA) and the associated α particle imaging technique about fast neutron (API).

  11. Further studies on HTLV-I associated myelopathy in Argentina.

    Science.gov (United States)

    Gonzalez, L A; Villa, A M; Kohler, G; Garcea, O; Kremenchutzky, M; Caceres, F; Sanz, O P; Sica, R E

    1998-01-01

    We report 10 HTLV-I virus seropositive subjects, eight of them with HTLV-I associated myelopathy (HAM), two of them also infected with HIV as well as two asymptomatic HTLV-I+ relatives of two unrelated patients. HTLV-I is endemic in several tropical areas, where it causes different neurological diseases. Only few patients have been reported in our country since 1994. We studied 8 patients, who fulfilled the clinical criteria for chronic spastic paraplegia, and 2 other non-symptomatic HTLV-I seropositive relatives, with electromyography (EMG), motor and sensory conduction velocities (NCV), somatosensory, visual and brainstem auditory evoked potentials (SSEP, VEP and BAEP), Magnetic Resonance Images (MRI) and cerobrospinal fluid (CSF) analysis. The latter was carried out only in seven symptomatic patients. In every case positive ELISA tests for HTLV-I/II were confirmed by Western Blot. The two asymptomatic persons were clinically and electromyographically assessed, one of them was also submitted to SSEPs studies. Three patients were males. Patient's ages ranged from 5 to 65 years old. All symptomatic patients showed muscular weakness, spasticity with pyramidal signs and sphincter disturbances. Five of them had paresthesias and 2 had burning pain on their feet. The EMGs and the NCVs were normal in 7 patients and in the 2 asymptomatic ones. SSEPs, obtained by stimulating the posterior tibial nerves, were impaired in 7 patients and in the asymptomatic person who received the procedure. The 7 symptomatic patients who underwent lumbar puncture had positive tests for HTLV-I in CSF, 3 out of these 7 patients had also high protein levels and 4 had increased number of lymphocytes. In 2 patients intrathecal IgG production could also be demonstrated. MRI were normal in 7 patients and in the 2 asymptomatics, the exception being a female who had bilateral hyperintense lesions in cerebral white matter in T2. In conclusion, tropical spastic paraparesis is apparently a rare disorder

  12. Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes

    NARCIS (Netherlands)

    Teumer, Alexander; Tin, Adrienne; Sorice, Rossella; Gorski, Mathias; Yeo, Nan Cher; Chu, Audrey Y; Li, Man; Li, Yong; Mijatovic, Vladan; Ko, Yi-An; Taliun, Daniel; Luciani, Alessandro; Chen, Ming-Huei; Yang, Qiong; Foster, Meredith C; Olden, Matthias; Hiraki, Linda T; Tayo, Bamidele O; Fuchsberger, Christian; Dieffenbach, Aida Karina; Shuldiner, Alan R; Smith, Albert V; Zappa, Allison M; Lupo, Antonio; Kollerits, Barbara; Ponte, Belen; Stengel, Bénédicte; Krämer, Bernhard K; Paulweber, Bernhard; Mitchell, Braxton D; Hayward, Caroline; Helmer, Catherine; Meisinger, Christa; Gieger, Christian; Shaffer, Christian M; Müller, Christian; Langenberg, Claudia; Ackermann, Daniel; Siscovick, David; Boerwinkle, Eric; Kronenberg, Florian; Ehret, Georg B; Homuth, Georg; Waeber, Gerard; Navis, Gerjan; Gambaro, Giovanni; Malerba, Giovanni; Eiriksdottir, Gudny; Li, Guo; Wichmann, H Erich; Grallert, Harald; Wallaschofski, Henri; Völzke, Henry; Brenner, Herrmann; Kramer, Holly; Mateo Leach, I; Rudan, Igor; Hillege, Hans L; Beckmann, Jacques S; Lambert, Jean Charles; Luan, Jian'an; Zhao, Jing Hua; Chalmers, John; Coresh, Josef; Denny, Joshua C; Butterbach, Katja; Launer, Lenore J; Ferrucci, Luigi; Kedenko, Lyudmyla; Haun, Margot; Metzger, Marie; Woodward, Mark; Hoffman, Matthew J; Nauck, Matthias; Waldenberger, Melanie; Pruijm, Menno; Bochud, Murielle; Rheinberger, Myriam; Verweij, Niek; Wareham, Nicholas J; Endlich, Nicole; Soranzo, Nicole; Polasek, Ozren; van der Harst, Pim; Pramstaller, Peter Paul; Vollenweider, Peter; Wild, Philipp S; Gansevoort, Ron T; Rettig, Rainer; Biffar, Reiner; Carroll, Robert J; Katz, Ronit; Loos, Ruth J F; Hwang, Shih-Jen; Coassin, Stefan; Bergmann, Sven; Rosas, Sylvia E; Stracke, Sylvia; Harris, Tamara B; Corre, Tanguy; Zeller, Tanja; Illig, Thomas; Aspelund, Thor; Tanaka, Toshiko; Lendeckel, Uwe; Völker, Uwe; Gudnason, Vilmundur; Chouraki, Vincent; Koenig, Wolfgang; Kutalik, Zoltan; O'Connell, Jeffrey R; Parsa, Afshin; Heid, Iris M; Paterson, Andrew D; de Boer, Ian H; Devuyst, Olivier; Lazar, Jozef; Endlich, Karlhans; Susztak, Katalin; Tremblay, Johanne; Hamet, Pavel; Jacob, Howard J; Böger, Carsten A; Fox, Caroline S; Pattaro, Cristian; Köttgen, Anna

    2016-01-01

    Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted meta-an

  13. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    NARCIS (Netherlands)

    Lanktree, Matthew B.; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T.; Bailey, Swneke D.; Onland-Moret, N. Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P.; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S.; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J.; Maloney, Cliona M.; Lobmeyer, Maximilian T.; Stanton, Alice; Zafarmand, M. Hadi; Romaine, Simon P. R.; Mehta, Amar; van Iperen, Erik P. A.; Gong, Yan; Price, Tom S.; Smith, Erin N.; Kim, Cecilia E.; Li, Yun R.; Asselbergs, Folkert W.; Atwood, Larry D.; Bailey, Kristian M.; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R.; Bhangale, Tushar; Boer, Jolanda M. A.; Boehm, Bernhard O.; Bradfield, Jonathan P.; Brown, Morris; Braund, Peter S.; Burton, Paul R.; Carty, Cara; Chandrupatla, Hareesh R.; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; de Boer, Anthonius; Drenos, Fotios; Elbers, Clara C.; Fang, James C.; Fox, Caroline S.; Frackelton, Edward C.; Fuchs, Barry; Furlong, Clement E.; Gibson, Quince; Gieger, Christian; Goe, Anuj; Grobbee, Diederik E.; Hastie, Claire; Howard, Philip J.; Huang, Guan-Hua; Johnson, W. Craig; Li, Qing; Kleber, Marcus E.; Klein, Barbara E. K.; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; LaCroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshal, Vanessa; Melander, Olle; Mentch, Frank D.; Meyer, Nuala J.; Monda, Keri L.; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondah, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J.; Otieno, F. George; Patel, Sanjey R.; Putt, Mary E.; Rodriguez, Santiago; Safa, Radwan N.; Sawyer, Douglas B.; Schreiner, Pamela J.; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R.; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K.; Thomas, Kelly A.; Thorand, Barbara; Timpson, Nicholas J.; Tischfield, Sam; Tobin, Martin; Tomaszweski, Maciej; Verschuren, W. M. Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M.; Clarke, Robert; Balmforth, Anthony J.; Danesh, John; Day, Ian N.; Schork, Nicholas J.; de Bakker, Paul I. W.; Delles, Christian; Duggan, David; Hingorani, Aroon D.; Hirschhorn, Joel N.; Hofker, Marten H.; Humphries, Steve E.; Kivimaki, Mika; Lawlor, Debbie A.; Kottke-Marchant, Kandice; Mega, Jessica L.; Mitchell, Braxton D.; Morrow, David A.; Palmen, Jutta; Redline, Susan; Shields, Denis C.; Shuldiner, Alan R.; Sleiman, Patrick M.; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C.; Casas, Juan P.; Hall, Alistair S.; Doevendans, Pieter A.; Christie, Jason D.; Berenson, Gerald S.; Murray, Sarah S.; Illig, Thomas; Dorn, Gerald W.; Cappola, Thomas P.; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J.; Reilly, Muredach P.; Caulfield, Mark; Talmud, Philippa J.; Topol, Eric; Engert, James C.; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P.; Silverstein, Roy L.; Lange, Leslie A.; Sabatine, Marc S.; Trip, Mieke; Saleheen, Danish; Peden, John F.; Cruickshanks, Karen J.; Maerz, Winfried; O'Connell, Jeffrey R.; Klungel, Olaf H.; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E.; Johnson, Julie A.; Jarvik, Gail P.; Papanicolaou, George J.; Watkins, Hugh; Grant, Struan F. A.; Munroe, Patricia B.; North, Kari E.; Samani, Nilesh J.; Koenig, Wolfgang; Gaunt, Tom R.; Anand, Sonia S.; van der Schouw, Yvonne T.; Kumari, Meena; Soranzo, Nicole; FitzGerald, Garret A.; Reiner, Alex; Hegele, Robert A.; Hakonarson, Hakon; Keating, Brendan J.

    2011-01-01

    Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and

  14. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    NARCIS (Netherlands)

    Lanktree, Matthew B.; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T.; Bailey, Swneke D.; Onland-Moret, N. Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P.; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S.; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J.; Maloney, Cliona M.; Lobmeyer, Maximilian T.; Stanton, Alice; Zafarmand, M. Hadi; Romaine, Simon P. R.; Mehta, Amar; van Iperen, Erik P. A.; Gong, Yan; Price, Tom S.; Smith, Erin N.; Kim, Cecilia E.; Li, Yun R.; Asselbergs, Folkert W.; Atwood, Larry D.; Bailey, Kristian M.; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R.; Bhangale, Tushar; Boer, Jolanda M. A.; Boehm, Bernhard O.; Bradfield, Jonathan P.; Brown, Morris; Braund, Peter S.; Burton, Paul R.; Carty, Cara; Chandrupatla, Hareesh R.; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; de Boer, Anthonius; Drenos, Fotios; Elbers, Clara C.; Fang, James C.; Fox, Caroline S.; Frackelton, Edward C.; Fuchs, Barry; Furlong, Clement E.; Gibson, Quince; Gieger, Christian; Goe, Anuj; Grobbee, Diederik E.; Hastie, Claire; Howard, Philip J.; Huang, Guan-Hua; Johnson, W. Craig; Li, Qing; Kleber, Marcus E.; Klein, Barbara E. K.; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; LaCroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshal, Vanessa; Melander, Olle; Mentch, Frank D.; Meyer, Nuala J.; Monda, Keri L.; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondah, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J.; Otieno, F. George; Patel, Sanjey R.; Putt, Mary E.; Rodriguez, Santiago; Safa, Radwan N.; Sawyer, Douglas B.; Schreiner, Pamela J.; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R.; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K.; Thomas, Kelly A.; Thorand, Barbara; Timpson, Nicholas J.; Tischfield, Sam; Tobin, Martin; Tomaszweski, Maciej; Verschuren, W. M. Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M.; Clarke, Robert; Balmforth, Anthony J.; Danesh, John; Day, Ian N.; Schork, Nicholas J.; de Bakker, Paul I. W.; Delles, Christian; Duggan, David; Hingorani, Aroon D.; Hirschhorn, Joel N.; Hofker, Marten H.; Humphries, Steve E.; Kivimaki, Mika; Lawlor, Debbie A.; Kottke-Marchant, Kandice; Mega, Jessica L.; Mitchell, Braxton D.; Morrow, David A.; Palmen, Jutta; Redline, Susan; Shields, Denis C.; Shuldiner, Alan R.; Sleiman, Patrick M.; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C.; Casas, Juan P.; Hall, Alistair S.; Doevendans, Pieter A.; Christie, Jason D.; Berenson, Gerald S.; Murray, Sarah S.; Illig, Thomas; Dorn, Gerald W.; Cappola, Thomas P.; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J.; Reilly, Muredach P.; Caulfield, Mark; Talmud, Philippa J.; Topol, Eric; Engert, James C.; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P.; Silverstein, Roy L.; Lange, Leslie A.; Sabatine, Marc S.; Trip, Mieke; Saleheen, Danish; Peden, John F.; Cruickshanks, Karen J.; Maerz, Winfried; O'Connell, Jeffrey R.; Klungel, Olaf H.; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E.; Johnson, Julie A.; Jarvik, Gail P.; Papanicolaou, George J.; Watkins, Hugh; Grant, Struan F. A.; Munroe, Patricia B.; North, Kari E.; Samani, Nilesh J.; Koenig, Wolfgang; Gaunt, Tom R.; Anand, Sonia S.; van der Schouw, Yvonne T.; Kumari, Meena; Soranzo, Nicole; FitzGerald, Garret A.; Reiner, Alex; Hegele, Robert A.; Hakonarson, Hakon; Keating, Brendan J.

    2011-01-01

    Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and

  15. Genome-wide association study identifies eight loci associated with blood pressure

    NARCIS (Netherlands)

    Newton-Cheh, Christopher; Johnson, Toby; Gateva, Vesela; Tobin, Martin D.; Bochud, Murielle; Coin, Lachlan; Najjar, Samer S.; Zhao, Jing Hua; Heath, Simon C.; Eyheramendy, Susana; Papadakis, Konstantinos; Voight, Benjamin F.; Scott, Laura J.; Zhang, Feng; Farrall, Martin; Tanaka, Toshiko; Wallace, Chris; Chambers, John C.; Khaw, Kay-Tee; Nilsson, Peter; van der Harst, Pim; Polidoro, Silvia; Grobbee, Diederick E.; Onland-Moret, N. Charlotte; Bots, Michiel L.; Wain, Louise V.; Elliott, Katherine S.; Teumer, Alexander; Luan, Jian'an; Lucas, Gavin; Kuusisto, Johanna; Burton, Paul R.; Hadley, David; McArdle, Wendy L.; Brown, Morris; Dominiczak, Anna; Newhouse, Stephen J.; Samani, Nilesh J.; Webster, John; Zeggini, Eleftheria; Beckmann, Jacques S.; Bergmann, Sven; Lim, Noha; Song, Kijoung; Vollenweider, Peter; Waeber, Gerard; Waterworth, Dawn M.; Yuan, Xin; Groop, Leif; Orho-Melander, Marju; Allione, Alessandra; Di Gregorio, Alessandra; Guarrera, Simonetta; Panico, Salvatore; Ricceri, Fulvio; Romanazzi, Valeria; Sacerdote, Carlotta; Vineis, Paolo; Barroso, Ines; Sandhu, Manjinder S.; Luben, Robert N.; Crawford, Gabriel J.; Jousilahti, Pekka; Perola, Markus; Boehnke, Michael; Bonnycastle, Lori L.; Collins, Francis S.; Jackson, Anne U.; Mohlke, Karen L.; Stringham, Heather M.; Valle, Timo T.; Willer, Cristen J.; Bergman, Richard N.; Morken, Mario A.; Doering, Angela; Gieger, Christian; Illig, Thomas; Meitinger, Thomas; Org, Elin; Pfeufer, Arne; Wichmann, H. Erich; Kathiresan, Sekar; Marrugat, Jaume; O'Donnell, Christopher J.; Schwartz, Stephen M.; Siscovick, David S.; Subirana, Isaac; Freimer, Nelson B.; Hartikainen, Anna-Liisa; McCarthy, Mark I.; O'Reilly, Paul F.; Peltonen, Leena; Pouta, Anneli; de Jong, Paul E.; Snieder, Harold; van Gilst, Wiek H.; Clarke, Robert; Goel, Anuj; Hamsten, Anders; Peden, John F.; Seedorf, Udo; Syvanen, Ann-Christine; Tognoni, Giovanni; Lakatta, Edward G.; Sanna, Serena; Scheet, Paul; Schlessinger, David; Scuteri, Angelo; Doerr, Marcus; Ernst, Florian; Felix, Stephan B.; Homuth, Georg; Lorbeer, Roberto; Reffelmann, Thorsten; Rettig, Rainer; Voelker, Uwe; Galan, Pilar; Gut, Ivo G.; Hercberg, Serge; Lathrop, G. Mark; Zelenika, Diana; Deloukas, Panos; Soranzo, Nicole; Williams, Frances M.; Zhai, Guangju; Salomaa, Veikko; Laakso, Markku; Elosua, Roberto; Forouhi, Nita G.; Volzke, Henry; Uiterwaal, Cuno S.; van der Schouw, Yvonne T.; Numans, Mattijs E.; Matullo, Giuseppe; Navis, Gerjan; Berglund, Goran; Bingham, Sheila A.; Kooner, Jaspal S.; Connell, John M.; Bandinelli, Stefania; Ferrucci, Luigi; Watkins, Hugh; Spector, Tim D.; Tuomilehto, Jaakko; Altshuler, David; Strachan, David P.; Laan, Maris; Meneton, Pierre; Wareham, Nicholas J.; Uda, Manuela; Jarvelin, Marjo-Riitta; Mooser, Vincent; Melander, Olle; Loos, Ruth J. F.; Elliott, Paul; Abecasis, Goncalo R.; Caulfield, Mark; Munroe, Patricia B.

    2009-01-01

    Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure

  16. Immunohistochemical study of porcine lung lesions associated with Pasteurella multocida

    DEFF Research Database (Denmark)

    Pors, Susanne Elisabeth; Hansen, Mette Sif; Bisgaard, Magne

    2013-01-01

    Infectious bronchopneumonia is a widespread disease in modern commercial pig production and Pasteurella multocida is frequently associated with the lesions. To evaluate porcine lung lesions associated with P. multocida, populations of inflammatory cells were examined by immunohistochemistry...... in necrotic lung lesions from nine pigs and exudative lung lesions from eleven pigs. Lungs from five pigs served as controls. All cases were selected from naturally infected pigs using co-infection based criteria to make them as comparable as possible. The inflammatory cells demonstrated....... The results show that P. multocida significantly alters the inflammatory response in the lung and that lesions associated with P. multocida display diverse inflammatory responses according to their distinct morphological pattern....

  17. Recent advances in the study of HPV-associated carcinogenesis

    Institute of Scientific and Technical Information of China (English)

    Liyan; Jin; Zhi-Xiang; Xu

    2015-01-01

    Human papillomaviruses(HPVs) cause virtually all cervical cancers, the second leading cause of death by cancer among women, as well as other anogenital cancers and a subset of head and neck cancers. Approximately half of women, who develop cervical cancer die from it. Despite the optimism that has accompanied the introduction of prophylactic vaccines to prevent some HPV infections, the relatively modest uptake of the vaccine, especially in the developing world, and the very high fraction of men and women who are already infected, means that HPV-associated disease will remain as a significant public health problem for decades. In this review, we summarize some recent findings on HPV-associated carcinogenesis, such as mi RNAs in HPV-associated cancers, implication of stem cells in the biology and therapy of HPV-positive cancers, HPV vaccines, targeted therapy of cervical cancer, and drug treatment for HPV-induced intraepithelial neoplasias.

  18. New Association Takes "Big Tent" Approach to Studying Native Peoples

    Science.gov (United States)

    Schmidt, Peter

    2009-01-01

    Although several academic associations in the United States devote at least some part of their annual conferences to research on American Indians, many scholars of indigenous populations have long felt they lacked an intellectual home, a place where they could gather with large numbers of people who share their interests. A fledgling organization,…

  19. Gender & Education Association: A Case Study in Feminist Education?

    Science.gov (United States)

    David, Miriam E.

    2015-01-01

    This article focuses on feminist activist academics who were instrumental in creating the UK Gender & Education Association at the turn of the twenty-first century. Drawing on my own intellectual biography (David, M. E. 2003. "Personal and Political: Feminisms, Sociology and Family Lives" Stoke-on-Trent. Trentham Books.) linked to…

  20. Inverse association between dairy intake and hypertension: the Rotterdam Study

    NARCIS (Netherlands)

    Engberink, M.F.; Hendriksen, M.A.H.; Schouten, E.G.; Rooij, van F.J.A.; Hofman, A.; Witteman, J.C.; Geleijnse, J.M.

    2009-01-01

    Background: Little is known about the effect of different types of dairy food products on the development of hypertension. Objective: The objective was to determine whether the incidence of hypertension in older Dutch subjects is associated with intake of dairy products. Design: We examined the rela

  1. Small bowel angiodysplasia and novel disease associations: a cohort study.

    LENUS (Irish Health Repository)

    Holleran, Grainne

    2013-04-01

    Gastrointestinal angiodysplasias recurrently bleed, accounting for 3-5% of obscure gastrointestinal bleeding. The advent of small bowel capsule endoscopy (SBCE) has led to an increased recognition of small bowel angiodysplasias (SBAs) but little is known about their etiology. Previous small cohorts and case reports suggest an equal gender incidence and associations with cardiovascular disease, renal impairment, and coagulopathies.

  2. Worrying affects associative fear learning: a startle fear conditioning study

    NARCIS (Netherlands)

    Gazendam, F.J.; Kindt, M.

    2012-01-01

    A valuable experimental model for the pathogenesis of anxiety disorders is that they originate from a learned association between an intrinsically non-aversive event (Conditioned Stimulus, CS) and an anticipated disaster (Unconditioned Stimulus, UCS). Most anxiety disorders, however, do not evolve

  3. Genome-wide association study of Tourette's syndrome

    NARCIS (Netherlands)

    Scharf, J. M.; Yu, D.; Mathews, C. A.; Neale, B. M.; Stewart, S. E.; Fagerness, J. A.; Evans, P.; Gamazon, E.; Edlund, C. K.; Service, S. K.; Tikhomirov, A.; Osiecki, L.; Illmann, C.; Pluzhnikov, A.; Konkashbaev, A.; Davis, L. K.; Han, B.; Crane, J.; Moorjani, P.; Crenshaw, A. T.; Parkin, M. A.; Reus, V. I.; Lowe, T. L.; Rangel-Lugo, M.; Chouinard, S.; Dion, Y.; Girard, S.; Cath, D. C.; Smit, J. H.; King, R. A.; Fernandez, T. V.; Leckman, J. F.; Kidd, K. K.; Kidd, J. R.; Pakstis, A. J.; State, M. W.; Herrera, L. D.; Romero, R.; Fournier, E.; Sandor, P.; Barr, C. L.; Phan, N.; Gross-Tsur, V.; Benarroch, F.; Pollak, Y.; Budman, C. L.; Bruun, R. D.; Erenberg, G.; Naarden, A. L.; Lee, P. C.; Weiss, N.; Kremeyer, B.; Berrio, G. B.; Campbell, D. D.; Cardona Silgado, J. C.; Ochoa, W. C.; Mesa Restrepo, S. C.; Muller, H.; Valencia Duarte, A. V.; Lyon, G. J.; Leppert, M.; Morgan, J.; Weiss, R.; Grados, M. A.; Anderson, K.; Davarya, S.; Singer, H.; Walkup, J.; Jankovic, J.; Tischfield, J. A.; Heiman, G. A.; Gilbert, D. L.; Hoekstra, P. J.; Robertson, M. M.; Kurlan, R.; Liu, C.; Gibbs, J. R.; Singleton, A.; Hardy, J.; Strengman, E.; Ophoff, R. A.; Wagner, M.; Moessner, R.; Mirel, D. B.; Posthuma, D.; Sabatti, C.; Eskin, E.; Conti, D. V.; Knowles, J. A.; Ruiz-Linares, A.; Rouleau, G. A.; Purcell, S.; Heutink, P.; Oostra, B. A.; McMahon, W. M.; Freimer, N. B.; Cox, N. J.; Pauls, D. L.

    2013-01-01

    Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association

  4. Occupation, Personality, and Accidents: An Exploratory Study of Aggregate Associations

    Science.gov (United States)

    2005-05-09

    better prediction of behavioral criteria (Mershon & Gorsuch , 1988; Hogan & Holland, 2003). One reason is that associations to criteria are not...Publications. Mershon, B., & Gorsuch , R. L. (1988). Number of factors in the personality sphere: Does increase in factors increase predictability

  5. A Genome-Wide Association Study of Depressive Symptoms

    NARCIS (Netherlands)

    Hek, Karin; Demirkan, Ayse; Lahti, Jari; Terracciano, Antonio; Teumer, Alexander; Cornelis, Marilyn C.; Amin, Najaf; Bakshis, Erin; Baumert, Jens; Ding, Jingzhong; Liu, Yongmei; Marciante, Kristin; Meirelles, Osorio; Nalls, Michael A.; Sun, Yan V.; Vogelzangs, Nicole; Yu, Lei; Bandinelli, Stefania; Benjamin, Emelia J.; Bennett, David A.; Boomsma, Dorret; Cannas, Alessandra; Coker, Laura H.; de Geus, Eco; De Jager, Philip L.; Diez-Roux, Ana V.; Purcell, Shaun; Hu, Frank B.; Rimm, Eric B.; Hunter, David J.; Jensen, Majken K.; Curhan, Gary; Rice, Kenneth; Penman, Alan D.; Rotter, Jerome I.; Sotoodehnia, Nona; Emeny, Rebecca; Eriksson, Johan G.; Evans, Denis A.; Ferrucci, Luigi; Fornage, Myriam; Gudnason, Vilmundur; Hofman, Albert; Illig, Thomas; Kardia, Sharon; Kelly-Hayes, Margaret; Koenen, Karestan; Kraft, Peter; Kuningas, Maris; Massaro, Joseph M.; Melzer, David; Mulas, Antonella; Mulder, Cornelis L.; Murray, Anna; Oostra, Ben A.; Palotie, Aarno; Penninx, Brenda; Petersmann, Astrid; Pilling, Luke C.; Psaty, Bruce; Rawal, Rajesh; Reiman, Eric M.; Schulz, Andrea; Shulman, Joshua M.; Singleton, Andrew B.; Smith, Albert V.; Sutin, Angelina R.; Uitterlinden, Andre G.; Voelzke, Henry; Widen, Elisabeth; Yaffe, Kristine; Zonderman, Alan B.; Cucca, Francesco; Harris, Tamara; Ladwig, Karl-Heinz; Llewellyn, David J.; Raikkonen, Katri; Tanaka, Toshiko; van Duijn, Cornelia M.; Grabe, Hans J.; Launer, Lenore J.; Lunetta, Kathryn L.; Mosley, Thomas H.; Newman, Anne B.; Tiemeier, Henning; Murabito, Joanne

    2013-01-01

    Background: Depression is a heritable trait that exists on a continuum of varying severity and duration. Yet, the search for genetic variants associated with depression has had few successes. We exploit the entire continuum of depression to find common variants for depressive symptoms. Methods: In t

  6. A genome-wide association study of depressive symptoms

    NARCIS (Netherlands)

    K. Hek (Karin); A. Demirkan (Ayşe); J. Lahti (Jari); A. Terracciano; A. Teumer (Alexander); M. Cornelis (Marilyn); N. Amin (Najaf); E. Bakshis (Erin); J. Baumert (Jens); J. Ding (Jinhui); Y. Liu (Yongmei); K. Marciante (Kristin); O. Meirelles; M.A. Nalls (Michael); Y.V. Sun (Yan); N. Vogelzangs (Nicole); L. Yu (Lei); S. Bandinelli (Stefania); E.J. Benjamin (Emelia); D.A. Bennett (David); D.I. Boomsma (Dorret); A. Cannas; L.H. Coker (Laura); E.J.C. de Geus (Eco); P.L. de Jager (Philip); A.V. Diez-Roux (Ana); S. Purcell (Shaun); F.B. Hu (Frank); E. Rimm; D.J. Hunter (David); M.K. Jensen (Majken); G.C. Curhan (Gary); K.M. Rice (Kenneth); A.D. Penman (Alan); J.I. Rotter (Jerome); N. Sotoodehnia (Nona); R. Emeny (Rebecca); J.G. Eriksson (Johan); D.A. Evans (Denis); L. Ferrucci (Luigi); M. Fornage (Myriam); V. Gudnason (Vilmundur); A. Hofman (Albert); T. Illig (Thomas); S.L.R. Kardia (Sharon); M. Kelly-Hayes (Margaret); M.E. Koenen (Marjorie); P. Kraft (Peter); M. Kuningas (Maris); J. Massaro (Joseph); D. Melzer (David); A. Mulas (Antonella); C.L. Mulder (Niels); A. Murray (Anna); B.A. Oostra (Ben); A. Palotie (Aarno); B.W.J.H. Penninx (Brenda); A. Petersmann (Astrid); L.C. Pilling (Luke); B.M. Psaty (Bruce); R. Rawal (R.); E.M. Reiman (Eric); A. Schulz (Ansgar); L. Shulman (Lee); A.B. Singleton (Andrew); G.D. Smith; A.R. Sutin; A.G. Uitterlinden (André); H. Völzke (Henry); E. Widen (Elisabeth); K. Yaffe (Kristine); A.B. Zonderman (Alan); F. Cucca (Francesco); T.B. Harris (Tamara); K.-H. Ladwig (Karl-Heinz); D.J. Llewellyn (David); K. Räikkönen (Katri); T. Tanaka (Toshiko); C.M. van Duijn (Cock); H.J. Grabe (Hans Jörgen); L.J. Launer (Lenore); K.L. Lunetta (Kathryn); T.H. Mosley (Thomas); A.B. Newman (Anne); H.W. Tiemeier (Henning); J. Murabito (Joanne)

    2013-01-01

    textabstractBackground: Depression is a heritable trait that exists on a continuum of varying severity and duration. Yet, the search for genetic variants associated with depression has had few successes. We exploit the entire continuum of depression to find common variants for depressive symptoms. M

  7. Inverse association between dairy intake and hypertension: the Rotterdam Study

    NARCIS (Netherlands)

    Engberink, M.F.; Hendriksen, M.A.H.; Schouten, E.G.; Rooij, van F.J.A.; Hofman, A.; Witteman, J.C.; Geleijnse, J.M.

    2009-01-01

    Background: Little is known about the effect of different types of dairy food products on the development of hypertension. Objective: The objective was to determine whether the incidence of hypertension in older Dutch subjects is associated with intake of dairy products. Design: We examined the rela

  8. Association of bacteria and viruses with wheezy episodes in young children: prospective birth cohort study

    DEFF Research Database (Denmark)

    Bisgaard, Hans; Hermansen, Mette Northman; Bønnelykke, Klaus;

    2010-01-01

    To study the association between wheezy symptoms in young children and the presence of bacteria in the airways.......To study the association between wheezy symptoms in young children and the presence of bacteria in the airways....

  9. 人类学田野工作的方法论意义及其对民俗志写作的启示%Discussion about the Method of Anthropology Fieldwork and its Inspiration on Folklore Ethnography Writing

    Institute of Scientific and Technical Information of China (English)

    博日吉汗卓娜; 全信子

    2013-01-01

    Fieldwork is a major research method for anthropology .It also reflects subject orientation and deep consensus of anthropology on methodological level .The research of folklore is experiencing the transition from traditional one to modern one at the present time ,which is reflected on its text style .Spe‐cifically ,it is the transition from museum‐classification record style to record and explanation type .The key measure to accomplish this transition is to establish academic norm of folklore ethnography fieldwork research .In this case ,the methodology of anthropology fieldwork would have some reference to this tran‐sition .%  田野工作是人类学最主要的研究方法,同时也体现了人类学在方法论层面的学科定位和深层共识。民俗学研究正在经历着从传统民俗志向现代民俗志的转型,反映在民俗志文本形式上,就是从博物馆式分类记录型民俗志向记录与解释并重的民俗志的转型。实现这一转型的关键之一,就是民俗志田野调查学术规范的确立,而人类学田野工作的方法论和研究方法会对民俗学的这一转型提供一定的借鉴。

  10. A Bayesian multilocus association method: allowing for higher-order interaction in association studies

    DEFF Research Database (Denmark)

    Albrechtsen, Anders; Castella, Sofie; Andersen, Gitte;

    2007-01-01

    conditions. We present a new powerful statistical model for analyzing and interpreting genomic data that influence multifactorial phenotypic traits with a complex and likely polygenic inheritance. The new method is based on Markov chain Monte Carlo (MCMC) and allows for identification of sets of SNPs...... and environmental factors that when combined increase disease risk or change the distribution of a quantitative trait. Using simulations, we show that the MCMC method can detect disease association when multiple, interacting SNPs are present in the data. When applying the method on real large-scale data from...

  11. Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study.

    Science.gov (United States)

    Neupane, Binod; Beyene, Joseph

    2015-01-01

    In a meta-analysis with multiple end points of interests that are correlated between or within studies, multivariate approach to meta-analysis has a potential to produce more precise estimates of effects by exploiting the correlation structure between end points. However, under random-effects assumption the multivariate estimation is more complex (as it involves estimation of more parameters simultaneously) than univariate estimation, and sometimes can produce unrealistic parameter estimates. Usefulness of multivariate approach to meta-analysis of the effects of a genetic variant on two or more correlated traits is not well understood in the area of genetic association studies. In such studies, genetic variants are expected to roughly maintain Hardy-Weinberg equilibrium within studies, and also their effects on complex traits are generally very small to modest and could be heterogeneous across studies for genuine reasons. We carried out extensive simulation to explore the comparative performance of multivariate approach with most commonly used univariate inverse-variance weighted approach under random-effects assumption in various realistic meta-analytic scenarios of genetic association studies of correlated end points. We evaluated the performance with respect to relative mean bias percentage, and root mean square error (RMSE) of the estimate and coverage probability of corresponding 95% confidence interval of the effect for each end point. Our simulation results suggest that multivariate approach performs similarly or better than univariate method when correlations between end points within or between studies are at least moderate and between-study variation is similar or larger than average within-study variation for meta-analyses of 10 or more genetic studies. Multivariate approach produces estimates with smaller bias and RMSE especially for the end point that has randomly or informatively missing summary data in some individual studies, when the missing data

  12. Epidemiological studies of esophageal cancer in the era of genome-wide association studies

    Institute of Scientific and Technical Information of China (English)

    An-Hui; Wang; Yuan; Liu; Bo; Wang; Yi-Xuan; He; Ye-Xian; Fang; Yong-Ping; Yan

    2014-01-01

    Esophageal cancer(EC) caused about 395000 deaths in 2010. China has the most cases of EC and EC is the fourth leading cause of cancer death in China. Esophageal squamous cell carcinoma(ESCC) is the predominant histologic type(90%-95%), while the incidence of esophageal adenocarcinoma(EAC) remains extremely low in China. Traditional epidemiological studies have revealed that environmental carcinogens are risk factors for EC. Molecular epidemiological studies revealed that susceptibility to EC is influenced by both environmental and genetic risk factors. Of all the risk factors for EC, some are associated with the risk of ESCC and others with the risk of EAC. However, the details and mechanisms of risk factors involved in the process for EC are unclear. The advanced methods and techniques used in human genome studies bring a great opportunity for researchers to explore and identify the details of those risk factors or susceptibility genes involved inthe process of EC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era to the era of genome wide association studies(GWAS). Here we review the epidemiological studies of EC(especially ESCC) in the era of GWAS, and provide an overview of the general risk factors and those genomic variants(genes, SNPs, miRNAs, proteins) involved in the process of ESCC.

  13. A statistical perspective on association studies of psychiatric disorders

    DEFF Research Database (Denmark)

    Foldager, Leslie

    2014-01-01

    and 2 were motivated by the hypothesis that defects of the immune system may increase risk of psychiatric disorders. We consider two components from the lectin pathway of activation: mannan-binding lectin (MBL) and MBL-associated serine protease-2 (MASP-2) via continuous traits (protein level...... accepted genome-wide threshold for single-marker association tests has become 5e-8 but searching for interactions genome-wide results in drastically many more tests and thus the need of an even lower p-value threshold. Lowering the threshold comes at the unfortunate but inevitable expense of increasing...... for significance. Yet, in paper 6 we propose the Landscape method to summarise a series of sequentially ordered test values without the need of more or less arbitrary prior grouping....

  14. An association study between the norepinephrine transporter gene and depression

    DEFF Research Database (Denmark)

    Buttenschøn, Henriette N; Jacobsen, Iben S; Grynderup, Matias B;

    2013-01-01

    A2 for solute carrier 6 family member 2). The gene is responsible for the reuptake of norepinephrine and dopamine into presynaptic nerve terminals and the norepinephrine system appears to play an important role in depression. We therefore analyzed genetic variants within SLC6A2 for association......A potential approach for identification of candidate genes for depression is characterization of chromosomal rearrangements. Through analysis of a chromosome translocation in an individual with recurrent depression, we identified a potential candidate gene: the norepinephrine transporter (NET; SLC6...... with depression in 408 affected and 559 control individuals from Denmark. After quality control of the genotypes, 31 of 45 single nucleotide polymorphisms (SNPs) were left for analyses. One SNP showed a nominal association with depression but did not survive correction for multiple testing. The results from our...

  15. A Photometric Study of Stars in the MBM 12 Association

    CERN Document Server

    Herbst, W; Hawley, W P; Herbst, William; Williams, Eric C.; Hawley, Wendy P.

    2004-01-01

    We have monitored four fields containing nine previously identified members of the MBM 12 association to search for photometric variability and periodicity in these pre-main sequence stars. Seven of the nine are found to be variable and definite periodicity (of 1.2, 2.6 and 6.2 days) is found for three of them, including the classical T Tauri star LkH-alpha 264. Two other members are possibly periodic but each requires confirmation. In addition, a "field" star that is associated with the X-ray source RX J0255.9+2005 was discovered to be a variable with a period of 4.2 days. Our results indicate that the photometric variability characteristics of the known MBM 12 association members are typical of what is found in ~few My old stellar groups such as IC 348, supporting arguments for a similar age. In particular, there is a mix of periodic and non-periodic variables with typical amplitudes (in Cousins I) of 0.1-0.5 mag, in addition to a small number of larger amplitude variables. The periods, as a group, are some...

  16. [Genomwide association studies on obesity: what can we learn from these studies].

    Science.gov (United States)

    Kronenberg, Florian; Paulweber, Bernhard; Lamina, Claudia

    2016-03-01

    The introduction of genome-wide association studies resulted in a tremendous increase in the number of genes associated with obesity and related phenotypes (BMI, waist and waist-hip-ratio). Despite this enormous gain in knowledge the search for genes is only started since only a small fraction of the heritability of these phenotypes is explained yet: each single gene of the 97 hitherto known BMI-associated genes and 49 waist-hip-ratio-associated genes explains only a tiny fraction of the variance of these phenotypes. Sex-specific differences are mainly known for waist-hip-ratio and ̴40% of the genes showed only an effect in women but no or a markedly smaller effect in men. The functional characterization of the identified genes will take a lot of time. It is unclear whether and how fast the findings will result in therapeutic consequences. It is of utmost importance that we understand the involved mechanisms before new therapeutic strategies can be developed.

  17. The study of slip line field and upper bound method based on associated flow and non-associated flow rules

    Institute of Scientific and Technical Information of China (English)

    Zheng Yingren; Deng Chujian; Wang Jinglin

    2010-01-01

    At present,associated flow rule of traditional plastic theory is adopted in the slip line field theory and upper bound method of geotechnical materials.So the stress characteristic line conforms to the velocity line.It is proved that geotechnical materials do not abide by the associated flow rule.It is impossible for the stress characteristic line to conform to the velocity line.Generalized plastic mechanics theoretically proved that plastic potential surface intersects the Mohr-Coulomb yield surface with an angle,so that the velocity line must be studied by non-associated flow rule.According to limit analysis theory,the theory of slip line field is put forward in this paper,and then the ultimate boating capacity of strip footing is obtained based on the associated flow rule and the non-associated flow rule individually.These two results are identical since the ultimate bearing capacity is independent of flow rule.On the contrary,the velocity fields of associated and non-associated flow rules are different which shows the velocity field based on the associated flow rule is incorrect.

  18. Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

    Science.gov (United States)

    Cordell, Heather J; Töpf, Ana; Mamasoula, Chrysovalanto; Postma, Alex V; Bentham, Jamie; Zelenika, Diana; Heath, Simon; Blue, Gillian; Cosgrove, Catherine; Granados Riveron, Javier; Darlay, Rebecca; Soemedi, Rachel; Wilson, Ian J; Ayers, Kristin L; Rahman, Thahira J; Hall, Darroch; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Brook, J David; Setchfield, Kerry; Bu'Lock, Frances A; Thornborough, Chris; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Bhattacharya, Shoumo; Winlaw, David; Mital, Seema; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Moorman, Antoon F M; Rauch, Anita; Lathrop, G Mark; Keavney, Bernard D; Goodship, Judith A

    2013-04-01

    We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10(-7)) and replicated convincingly (P = 3.9 × 10(-5)) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10(-11) in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10(-7)) and replicated convincingly (P = 1.2 × 10(-5)) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10(-11) in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TOF.

  19. A Longitudinal Study of Association between Adiposity Markers and Intraocular Pressure: The Kangbuk Samsung Health Study.

    Science.gov (United States)

    Zhao, Di; Kim, Myung Hun; Pastor-Barriuso, Roberto; Chang, Yoosoo; Ryu, Seungho; Zhang, Yiyi; Rampal, Sanjay; Shin, Hocheol; Kim, Joon Mo; Friedman, David S; Guallar, Eliseo; Cho, Juhee

    2016-01-01

    Intraocular pressure (IOP) reduction or stabilization is the only proven method for glaucoma management. Identifying risk factors for IOP is crucial to understand the pathophysiology of glaucoma. To examine the associations of change in body mass index (BMI), waist circumference, and percent fat mass with change in intraocular pressure (IOP) in a large sample of Korean adults. Cohort study of 274,064 young and middle age Korean adults with normal fundoscopic findings who attended annual or biennial health exams from January 1, 2002 to Feb 28, 2010 (577,981 screening visits). BMI, waist circumference, and percent fat mass. At each visit, IOP was measured in both eyes with automated noncontact tonometers. In multivariable-adjusted models, the average increase in IOP (95% confidence intervals) over time per interquartile increase in BMI (1.26 kg/m2), waist circumference (6.20 cm), and percent fat mass (3.40%) were 0.18 mmHg (0.17 to 0.19), 0.27 mmHg (0.26 to 0.29), and 0.10 mmHg (0.09 to 0.11), respectively (all P < 0.001). The association was stronger in men compared to women (P < 0.001) and it was only slightly attenuated after including diabetes and hypertension as potential mediators in the model. Increases in adiposity were significantly associated with an increase in IOP in a large cohort of Korean adults attending health screening visits, an association that was stronger for central obesity. Further research is needed to understand better the underlying mechanisms of this association, and to establish the role of weight gain in increasing IOP and the risk of glaucoma and its complications.

  20. A Study of Association Strategies in Middle School Vocabulary Learning

    Institute of Scientific and Technical Information of China (English)

    李娜

    2013-01-01

    English for a long time, they still find their vocabulary insufficient. Because of the lack of vocabulary, they cannot understand the meaning of a sentence or cannot understand what others say. And their desire to learn is very strong. Therefore, possessing the efficient strategies of vocabulary learning is especially important. From this point, according to the investigation, this paper is intended to discuss the efficiency of the association methods in middle school vocabulary learning. Only when teachers adopt the appropriate strategies can they make a productive classroom teaching and arouse students’ learning interest.

  1. Genome-wide population-based association study of extremely overweight young adults--the GOYA study

    DEFF Research Database (Denmark)

    Paternoster, Lavinia; Evans, David M; Nøhr, Ellen Aagaard

    2011-01-01

    Thirty-two common variants associated with body mass index (BMI) have been identified in genome-wide association studies, explaining ∼1.45% of BMI variation in general population cohorts. We performed a genome-wide association study in a sample of young adults enriched for extremely overweight...

  2. Study of Single Top Quarks in Association with Vector Bosons

    CERN Document Server

    Leggat, Duncan Alexander

    2015-01-01

    The search for single top production in association with a massive electroweak vector bosonusing data collected by the CMS detector at the Large Hadron Collider is presented. Twoanalyses are discussed: the search for a single top produced in association with a W boson(tW production) and the search for t-channel single top production with a radiated Zboson (tZq production). Both analyses make use of proton-proton collision data at acentre-of-mass energy of 8 TeV, and focus on the leptonic decays of the vector bosons. Acut and count based approach is employed for the tW search, searching for a final statecontaining two leptons, two neutrinos and a jet originating from the decay of a b-quark.The main backgrounds to be understood and controlled in this analysis are those arisingfrom the production of top quark pairs and Z bosons with one or more jets. Using a set ofdata corresponding to an integrated luminosity of 12.2 fb−1 , a production cross section of33.9 ± 8.6 pb was measured for the process. This corres...

  3. Brain Activity Associated with Emoticons: An fMRI Study

    Science.gov (United States)

    Yuasa, Masahide; Saito, Keiichi; Mukawa, Naoki

    In this paper, we describe that brain activities associated with emoticons by using fMRI. In communication over a computer network, we use abstract faces such as computer graphics (CG) avatars and emoticons. These faces convey users' emotions and enrich their communications. However, the manner in which these faces influence the mental process is as yet unknown. The human brain may perceive the abstract face in an entirely different manner, depending on its level of reality. We conducted an experiment using fMRI in order to investigate the effects of emoticons. The results show that right inferior frontal gyrus, which associated with nonverbal communication, is activated by emoticons. Since the emoticons were created to reflect the real human facial expressions as accurately as possible, we believed that they would activate the right fusiform gyrus. However, this region was not found to be activated during the experiment. This finding is useful in understanding how abstract faces affect our behaviors and decision-making in communication over a computer network.

  4. A study of pattern recovery in recurrent correlation associative memories.

    Science.gov (United States)

    Wilson, R C; Hancock, E R

    2003-01-01

    In this paper, we analyze the recurrent correlation associative memory (RCAM) model of Chiueh and Goodman (1990, 1991). This is an associative memory in which stored binary memory patterns are recalled via an iterative update rule. The update of the individual pattern-bits is controlled by an excitation function, which takes as its argument the inner product between the stored memory patterns and the input patterns. Our contribution is to analyze the dynamics of pattern recall when the input patterns are corrupted by noise of a relatively unrestricted class. We show how to identify the excitation function which maximizes the separation (the Fisher discriminant) between the uncorrupted realization of the noisy input pattern and the remaining patterns residing in the memory. The excitation function which gives maximum separation is exponential when the input bit-errors follow a binomial distribution. We develop an expression for the expectation value of bit-error probability on the input pattern after one iteration. We show how to identify the excitation function which minimizes the bit-error probability. The relationship between the excitation functions which result from the two different approaches is examined for a binomial distribution of bit-errors. We develop a semiempirical approach to the modeling of the dynamics of the RCAM.

  5. A study on the mixed jaw lesions associated with teeth

    Energy Technology Data Exchange (ETDEWEB)

    Nah, Kyung Soo [Dept. of Dental Radiology, College of Dentistry, Pusan National University, Pusan (Korea, Republic of)

    2000-03-15

    1. Retrospectively evaluate the accuracy of tentative diagnosis or impression from the clinico-radiographic materials of jaw lesions which showed mixed lesions associated with teeth. 2. To observe the diagnostic importance of the calcified part of the lesions which appear as radiopaque areas. 14 cases of jaw lesions which showed mixed lesions associated with teeth were reviewed. These lesions were mostly diagnosed as adenomatoid odontogenic tumors (6 cases) or calcifying odontogenic cysts with (4 cases) or without odontomas (4 cases). The calcified elements of the lesions which demonstrated various sizes and patterns of radiopaque shadows resembled odontoid tissues in some cases but could not be defined in some other cases radiographically. The final histopathologic diagnosis confirmed adenomatoid odontogenic tumors in 4 of the 6 cases. The remaining 2 cases turned out to be odontoma and ameloblastic fibroodontoma. The 4 cases of calcifying odontogenic cysts with odontomas were correct in 3 cases but remaining 1 case was just odontoma. The 4 cases of calcifying odontogenic cysts were proved to be odontogenic keratocyst, calcified peripheral fibroma, unicystic ameloblastoma and squamous cell carcinoma. The diagnostic accuracy of the adenomatoid odontogenic tumors and calcifying odontogenic cysts were high when the lesions show typical appearance. The calcifications which show radiopaque areas could be odontomas or dystrophic calficifations or remnants of bone fragments from resorption.

  6. Pharmacognostic and phytochemical studies on Ficus Microcarpa L. fil

    OpenAIRE

    Kalaskar, Mohan G.; Surana, Sanjay J.

    2012-01-01

    Background: Ficus microcarpa L. fil. (Syn: Ficus retusa) (Moraceae) is well-known traditional medicinal plant. The bark is used for diverse health ailments in traditional and folklore remedies. Aims: The present study was undertaken to lay down pharmacognostical and phytochemical standards. Materials and Methods: Pharmacognostic studies on fresh, dried and powdered bark was carried out to determine it's morphological, anatomical, and phytochemical diagnostic features. Furthermore, major phyto...

  7. Pharmacognostical Study of the Whole Plant of Sida rhombifolia

    Directory of Open Access Journals (Sweden)

    Pooja Sinoriya

    2013-09-01

    Full Text Available Sida rhombifolia commonly called Bala or Atibala is claimed by folklore for various aliments like rheumatism, seminal weakness and diarrhea. This study presents a detailed pharmacognostical study of leaves of Sida rhombifolia. WHO recommended physic-chemical determinations and authentic phytochemical procedures. The physicochemical, morphological and histological parameters presented in this paper may be proposed as parameters to identify and establish the authenticity of Sida rhombifolia.

  8. Study on the Customer targeting using Association Rule Mining

    Directory of Open Access Journals (Sweden)

    Surendiran.R

    2010-10-01

    Full Text Available Data mining is one of the widest area where many researches takes place to mine desired and hidden data. There are many different approaches to find the hidden data. This paper deals with Frequent Pattern growth algorithm which follows association rule concept togroup the required data items. Using this method of mining time can be reduced to a greater extent. This paper contains implementation of a real time system; the implementation is about making a survey on the group of people and their mobile connection’s service providers.End result contains the set of people from a particular age group with their support and confidence for the service provider they have chosen. Based on which any decisions can be made by service providers to enhance their business and attain many customers.

  9. Genome-wide Association Study of Obsessive-Compulsive Disorder

    Science.gov (United States)

    Stewart, S Evelyn; Yu, Dongmei; Scharf, Jeremiah M; Neale, Benjamin M; Fagerness, Jesen A; Mathews, Carol A; Arnold, Paul D; Evans, Patrick D; Gamazon, Eric R; Osiecki, Lisa; McGrath, Lauren; Haddad, Stephen; Crane, Jacquelyn; Hezel, Dianne; Illman, Cornelia; Mayerfeld, Catherine; Konkashbaev, Anuar; Liu, Chunyu; Pluzhnikov, Anna; Tikhomirov, Anna; Edlund, Christopher K; Rauch, Scott L; Moessner, Rainald; Falkai, Peter; Maier, Wolfgang; Ruhrmann, Stephan; Grabe, Hans-Jörgen; Lennertz, Leonard; Wagner, Michael; Bellodi, Laura; Cavallini, Maria Cristina; Richter, Margaret A; Cook, Edwin H; Kennedy, James L; Rosenberg, David; Stein, Dan J; Hemmings, Sian MJ; Lochner, Christine; Azzam, Amin; Chavira, Denise A; Fournier, Eduardo; Garrido, Helena; Sheppard, Brooke; Umaña, Paul; Murphy, Dennis L; Wendland, Jens R; Veenstra-VanderWeele, Jeremy; Denys, Damiaan; Blom, Rianne; Deforce, Dieter; Van Nieuwerburgh, Filip; Westenberg, Herman GM; Walitza, Susanne; Egberts, Karin; Renner, Tobias; Miguel, Euripedes Constantino; Cappi, Carolina; Hounie, Ana G; Conceição do Rosário, Maria; Sampaio, Aline S; Vallada, Homero; Nicolini, Humberto; Lanzagorta, Nuria; Camarena, Beatriz; Delorme, Richard; Leboyer, Marion; Pato, Carlos N; Pato, Michele T; Voyiaziakis, Emanuel; Heutink, Peter; Cath, Danielle C; Posthuma, Danielle; Smit, Jan H; Samuels, Jack; Bienvenu, O Joseph; Cullen, Bernadette; Fyer, Abby J; Grados, Marco A; Greenberg, Benjamin D; McCracken, James T; Riddle, Mark A; Wang, Ying; Coric, Vladimir; Leckman, James F; Bloch, Michael; Pittenger, Christopher; Eapen, Valsamma; Black, Donald W; Ophoff, Roel A; Strengman, Eric; Cusi, Daniele; Turiel, Maurizio; Frau, Francesca; Macciardi, Fabio; Gibbs, J Raphael; Cookson, Mark R; Singleton, Andrew; Hardy, John; Crenshaw, Andrew T; Parkin, Melissa A; Mirel, Daniel B; Conti, David V; Purcell, Shaun; Nestadt, Gerald; Hanna, Gregory L; Jenike, Michael A; Knowles, James A; Cox, Nancy; Pauls, David L

    2014-01-01

    Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the genetic variation predisposing to OCD. A set of individuals affected with DSM-IV OCD, a subset of their parents, and unselected controls, were genotyped with several different Illumina SNP microarrays. After extensive data cleaning, 1,465 cases, 5,557 ancestry-matched controls and 400 complete trios remained, with a common set of 469,410 autosomal and 9,657 X-chromosome SNPs. Ancestry-stratified case-control association analyses were conducted for three genetically-defined subpopulations and combined in two meta-analyses, with and without the trio-based analysis. In the case-control analysis, the lowest two p-values were located within DLGAP1 (p=2.49×10-6 and p=3.44×10-6), a member of the neuronal postsynaptic density complex. In the trio analysis, rs6131295, near BTBD3, exceeded the genome-wide significance threshold with a p-value=3.84 × 10-8. However, when trios were meta-analyzed with the combined case-control samples, the p-value for this variant was 3.62×10-5, losing genome-wide significance. Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio-case-control sample, a significant enrichment of methylation-QTLs (p<0.001) and frontal lobe eQTLs (p=0.001) was observed within the top-ranked SNPs (p<0.01) from the trio-case-control analysis, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD. PMID:22889921

  10. Facility design and associated services for the study of amphibians.

    Science.gov (United States)

    Browne, Robert K; Odum, R Andrew; Herman, Timothy; Zippel, Kevin

    2007-01-01

    The role of facilities and associated services for amphibians has recently undergone diversification. Amphibians traditionally used as research models adjust well to captivity and thrive with established husbandry techniques. However, it is now necessary to maintain hundreds of novel amphibian species in captive breeding, conservation research, and biomedical research programs. These diverse species have a very wide range of husbandry requirements, and in many cases the ultimate survival of threatened species will depend on captive populations. Two critical factors have emerged in the maintenance of amphibians, stringent quarantine and high-quality water. Because exotic diseases such as chytridiomycosis have devastated both natural and captive populations of amphibians, facilities must provide stringent quarantine. The provision of high-quality water is also essential to maintain amphibian health and condition due to the intimate physiological relationship of amphibians to their aquatic environment. Fortunately, novel technologies backed by recent advances in the scientific knowledge of amphibian biology and disease management are available to overcome these challenges. For example, automation can increase the reliability of quarantine and maintain water quality, with a corresponding decrease in handling and the associated disease-transfer risk. It is essential to build facilities with appropriate nontoxic waterproof materials and to provide quarantined amphibian rooms for each population. Other spaces and services include live feed rooms, quarantine stations, isolation rooms, laboratory space, technical support systems, reliable energy and water supplies, high-quality feed, and security. Good husbandry techniques must include reliable and species-specific management by trained staff members who receive support from the administration. It is possible to improve husbandry techniques for many species by sharing knowledge through common information systems. Overall

  11. Avidity Studies in Anisakis simplex-Associated Allergic Diseases

    Directory of Open Access Journals (Sweden)

    Carmen Cuéllar

    2013-01-01

    Full Text Available Gastroallergic anisakiasis (GAA and Anisakis-sensitization-associated chronic urticaria (CU+ differ with respect to specific IgE levels. We hypothesised different immunoglobulin avidities in both entities as well as their dependence on TI and fish consumption. 16 patients with GAA and 17 patients with CU+ were included, and immunoglobulin levels were analysed by CAP (Phadia. IgE and IgG avidity indexes (AvIgE and AvIgG, resp. were also determined. IgG avidity was higher in GAA than in CU+ (P=0.035, whereas there was a tendency to lower IgE avidity in GAA (P=0.095. When analysing all patients, AvIgG was positively correlated with specific IgE, IgG, and IgG4 as well as total IgE (Rho between 0.66 and 0.71; P<0.002, but AvIgE was negatively correlated with specific IgE (Rho −0.57; P<0.001, specific IgG4 (Rho −0.38; P<0.05, and total IgE (Rho 0.66; P<0.001. In GAA, weekly fish consumption was positively associated with AvIgE (Rho 0.51; P=0.05. A multivariate regression showed that time interval was the main explaining factor for AvIgE in GAA. We could show a differential behaviour of immunoglobulin isotype avidities in both entities and their dependence on fish-eating habits as well as on the time elapsed to the last parasitic episode.

  12. Structural Studies of Adeno-Associated Virus Serotype 8 Capsid Transitions Associated with Endosomal Trafficking

    Energy Technology Data Exchange (ETDEWEB)

    Nam, Hyun-Joo; Gurda, Brittney L.; McKenna, Robert; Potter, Mark; Byrne, Barry; Salganik, Maxim; Muzyczka, Nicholas; Agbandje-McKenna, Mavis (Florida)

    2012-09-17

    The single-stranded DNA (ssDNA) parvoviruses enter host cells through receptor-mediated endocytosis, and infection depends on processing in the early to late endosome as well as in the lysosome prior to nuclear entry for replication. However, the mechanisms of capsid endosomal processing, including the effects of low pH, are poorly understood. To gain insight into the structural transitions required for this essential step in infection, the crystal structures of empty and green fluorescent protein (GFP) gene-packaged adeno-associated virus serotype 8 (AAV8) have been determined at pH values of 6.0, 5.5, and 4.0 and then at pH 7.5 after incubation at pH 4.0, mimicking the conditions encountered during endocytic trafficking. While the capsid viral protein (VP) topologies of all the structures were similar, significant amino acid side chain conformational rearrangements were observed on (i) the interior surface of the capsid under the icosahedral 3-fold axis near ordered nucleic acid density that was lost concomitant with the conformational change as pH was reduced and (ii) the exterior capsid surface close to the icosahedral 2-fold depression. The 3-fold change is consistent with DNA release from an ordering interaction on the inside surface of the capsid at low pH values and suggests transitions that likely trigger the capsid for genome uncoating. The surface change results in disruption of VP-VP interface interactions and a decrease in buried surface area between VP monomers. This disruption points to capsid destabilization which may (i) release VP1 amino acids for its phospholipase A2 function for endosomal escape and nuclear localization signals for nuclear targeting and (ii) trigger genome uncoating.

  13. Structural studies of adeno-associated virus serotype 8 capsid transitions associated with endosomal trafficking.

    Science.gov (United States)

    Nam, Hyun-Joo; Gurda, Brittney L; McKenna, Robert; Potter, Mark; Byrne, Barry; Salganik, Maxim; Muzyczka, Nicholas; Agbandje-McKenna, Mavis

    2011-11-01

    The single-stranded DNA (ssDNA) parvoviruses enter host cells through receptor-mediated endocytosis, and infection depends on processing in the early to late endosome as well as in the lysosome prior to nuclear entry for replication. However, the mechanisms of capsid endosomal processing, including the effects of low pH, are poorly understood. To gain insight into the structural transitions required for this essential step in infection, the crystal structures of empty and green fluorescent protein (GFP) gene-packaged adeno-associated virus serotype 8 (AAV8) have been determined at pH values of 6.0, 5.5, and 4.0 and then at pH 7.5 after incubation at pH 4.0, mimicking the conditions encountered during endocytic trafficking. While the capsid viral protein (VP) topologies of all the structures were similar, significant amino acid side chain conformational rearrangements were observed on (i) the interior surface of the capsid under the icosahedral 3-fold axis near ordered nucleic acid density that was lost concomitant with the conformational change as pH was reduced and (ii) the exterior capsid surface close to the icosahedral 2-fold depression. The 3-fold change is consistent with DNA release from an ordering interaction on the inside surface of the capsid at low pH values and suggests transitions that likely trigger the capsid for genome uncoating. The surface change results in disruption of VP-VP interface interactions and a decrease in buried surface area between VP monomers. This disruption points to capsid destabilization which may (i) release VP1 amino acids for its phospholipase A2 function for endosomal escape and nuclear localization signals for nuclear targeting and (ii) trigger genome uncoating.

  14. Outcomes of Global Education: External and Internal Change Associated with Study Abroad

    Science.gov (United States)

    Miller-Perrin, Cindy; Thompson, Don

    2014-01-01

    This chapter provides an overview of external and internal changes associated with collegiate study abroad experiences. A brief review of the research literature is included along with recent research that sheds light on potential mechanisms associated with study abroad-related change. Recommendations for enhancing outcomes associated with study…

  15. Outcomes of Global Education: External and Internal Change Associated with Study Abroad

    Science.gov (United States)

    Miller-Perrin, Cindy; Thompson, Don

    2014-01-01

    This chapter provides an overview of external and internal changes associated with collegiate study abroad experiences. A brief review of the research literature is included along with recent research that sheds light on potential mechanisms associated with study abroad-related change. Recommendations for enhancing outcomes associated with study…

  16. Recent advances in human gene-longevity association studies

    DEFF Research Database (Denmark)

    De Benedictis, G; Tan, Q; Jeune, B;

    2001-01-01

    % of the variation in life span is genetically determined. Taking advantage of recent developments in molecular biology, researchers are now searching for candidate genes that might have an influence on life span. The data on unrelated individuals emerging from an ever-increasing number of centenarian studies makes......This paper reviews the recent literature on genes and longevity. The influence of genes on human life span has been confirmed in studies of life span correlation between related individuals based on family and twin data. Results from major twin studies indicate that approximately 25...

  17. On Indigenous Knowledge of Mongolian Folklore and Oral Literature on BANBU:An Entomological Research on Dung Beatles in Minority Areas (2)%有关“班布”的蒙古民俗与口承兼论其深层本土知识——关于蜣螂的民族昆虫学研究之二

    Institute of Scientific and Technical Information of China (English)

    特古斯巴雅尔

    2012-01-01

    通过考察有关"班布"(蜣螂)的蒙古语汇和民俗,内容涉及到儿童游戏、传说、童谣、谜语等等民间文学形式,从中发现这些民俗和民间文学文本蕴含着丰富的本土知识和意义。它们的文化功能之一是使蒙古牧人们从小接触、熟知、接纳和容忍"班布"这一昆虫在他们身边的生息和活动,务使人们不至于因厌恶与恐惧而加害于牠们。这是由蒙古文化价值系统所预设的保护机制,意在对这种有用的昆虫做到精心的关照,使之能发挥不可替代的生态维护价值。%Based on the research of Mongolian vocabulary and folklore concerning BANBU (Dung Beatles) in terms of children’s games, legends, nursery rhymes and riddles, the study is to discover indigenous knowledge and its significance from the oral literature. One of their cultural function is as follows: Mongolian herdsmen, from their childhood, get exposed to and familiar with the insects and then they can accept and tolerate the insects’ living and moving around them, so as not to disgust or fear or even kill them. This is the result of the protection mechanism defaulted by the Mongolian cultural value, which provides great care to the beneficial insects for an irreplaceable ecological maintenance value.