Linked Life Data

21569088

Source:http://linkedlifedata.com/resource/pubmed/id/21569088

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pubmed-article:21569088pubmed:abstractTextGenome-wide association studies have identified >30 common variants associated with Type 2 diabetes (>5% minor allele frequency). These variants have small effects on individual risk and do not account for a large proportion of the heritable component of the disease. Monogenic forms of diabetes are caused by mutations that occur in <1:2000 individuals and follow strict patterns of inheritance. In contrast, the role of low frequency genetic variants (minor allele frequency 0.1-5%) in Type 2 diabetes is not known. The aim of this study was to assess the role of low frequency PDX1 (also called IPF1) variants in Type 2 diabetes.lld:pubmed
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pubmed-article:21569088pubmed:copyrightInfo© 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.lld:pubmed
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pubmed-article:21569088pubmed:volume28lld:pubmed
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pubmed-article:21569088pubmed:year2011lld:pubmed
pubmed-article:21569088pubmed:articleTitleSequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.lld:pubmed
pubmed-article:21569088pubmed:affiliationInstitute of Biomedical and Clinical Science Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, UK. emma.edghill@pms.ac.uklld:pubmed
pubmed-article:21569088pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:21569088pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed