dc.contributor.author | Edghill, EL | |
dc.contributor.author | Khamis, A | |
dc.contributor.author | Weedon, Michael N. | |
dc.contributor.author | Walker, M | |
dc.contributor.author | Hitman, Graham A. | |
dc.contributor.author | McCarthy, MI | |
dc.contributor.author | Owen, KR | |
dc.contributor.author | Ellard, Sian | |
dc.contributor.author | Hattersley, Andrew T. | |
dc.contributor.author | Frayling, Timothy M. | |
dc.date.accessioned | 2013-12-09T15:04:50Z | |
dc.date.issued | 2011-06 | |
dc.description.abstract | 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. | en_GB |
dc.identifier.citation | Vol. 28, Issue 6, pp. 681 - 684 | en_GB |
dc.identifier.doi | 10.1111/j.1464-5491.2011.03269.x | |
dc.identifier.uri | http://hdl.handle.net/10871/14220 | |
dc.language.iso | en | en_GB |
dc.publisher | Wiley-Blackwell | en_GB |
dc.relation.url | http://www.ncbi.nlm.nih.gov/pubmed/21569088 | en_GB |
dc.subject | Adolescent | en_GB |
dc.subject | Adult | en_GB |
dc.subject | Case-Control Studies | en_GB |
dc.subject | Diabetes Mellitus, Type 2 | en_GB |
dc.subject | European Continental Ancestry Group | en_GB |
dc.subject | Female | en_GB |
dc.subject | Genome-Wide Association Study | en_GB |
dc.subject | Great Britain | en_GB |
dc.subject | Homeodomain Proteins | en_GB |
dc.subject | Humans | en_GB |
dc.subject | Male | en_GB |
dc.subject | Middle Aged | en_GB |
dc.subject | Mutation | en_GB |
dc.subject | Polymorphism, Single Nucleotide | en_GB |
dc.subject | Sequence Analysis, DNA | en_GB |
dc.subject | Trans-Activators | en_GB |
dc.subject | Young Adult | en_GB |
dc.title | 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 | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2013-12-09T15:04:50Z | |
dc.identifier.issn | 0742-3071 | |
exeter.place-of-publication | England | |
dc.description | OnlineOpen Article. This is a copy of an article published in Diabetic Medicine. This journal is available online at: http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1464-5491 | en_GB |
dc.identifier.journal | Diabetic Medicine | en_GB |