Source:http://linkedlifedata.com/resource/pubmed/id/21569088
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2011-5-16
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pubmed:abstractText |
Genome-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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1464-5491
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pubmed:author | |
pubmed:copyrightInfo |
© 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.
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pubmed:issnType |
Electronic
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
681-4
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pubmed:meshHeading |
pubmed-meshheading:21569088-Adolescent,
pubmed-meshheading:21569088-Adult,
pubmed-meshheading:21569088-Case-Control Studies,
pubmed-meshheading:21569088-Diabetes Mellitus, Type 2,
pubmed-meshheading:21569088-European Continental Ancestry Group,
pubmed-meshheading:21569088-Female,
pubmed-meshheading:21569088-Genome-Wide Association Study,
pubmed-meshheading:21569088-Great Britain,
pubmed-meshheading:21569088-Homeodomain Proteins,
pubmed-meshheading:21569088-Humans,
pubmed-meshheading:21569088-Male,
pubmed-meshheading:21569088-Middle Aged,
pubmed-meshheading:21569088-Mutation,
pubmed-meshheading:21569088-Polymorphism, Single Nucleotide,
pubmed-meshheading:21569088-Sequence Analysis, DNA,
pubmed-meshheading:21569088-Trans-Activators,
pubmed-meshheading:21569088-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
Sequencing 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.
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pubmed:affiliation |
Institute 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.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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