Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2011-5-16
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1464-5491
pubmed:author
pubmed:copyrightInfo
© 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.
pubmed:issnType
Electronic
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
681-4
pubmed:meshHeading
pubmed:year
2011
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.
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
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't