Source:http://linkedlifedata.com/resource/pubmed/id/15504983
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
2004-10-26
|
| pubmed:abstractText |
Hepatocyte nuclear factor (HNF)-4alpha is part of a transcription factor network that is key for the development and function of the beta-cell. Rare mutations in the HNF4alpha gene cause maturity-onset diabetes of the young. A number of type 2 diabetes linkage studies have found evidence of linkage to 20q12-13.1 where the HNF4alpha gene is located. Two recent studies have found an association between four common variants of the alternative P2 promoter region and type 2 diabetes. These variants are in strong linkage disequilibrium, and the minor alleles define one common risk haplotype. In both studies, the risk haplotype explained a large proportion of the evidence of linkage to 20q12-13.1. We aimed to assess this haplotype in a U.K. Caucasian study of 5,256 subjects. We typed two single nucleotide polymorphisms tagging the risk haplotype (rs4810424 and rs2144908) and found evidence of association in both case-control and family-based studies; rs4810424 marginally demonstrated the stronger association with an overall estimated odds ratio of 1.15 (95% CI 1.02-1.33) (P = 0.02). The effect of the P2 haplotype on type 2 diabetes risk is less than in the initial studies, probably reflecting that these studies used 20q12-13.1-linked cases. In conclusion, we have replicated the association of the HNF4alpha P2 promoter haplotype with type 2 diabetes in a U.K. Caucasian population where there is no evidence of linkage to 20q.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/HNF4A protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 4,
http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0012-1797
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| pubmed:author |
pubmed-author:FraylingTimothy MTM,
pubmed-author:HattersleyAndrew TAT,
pubmed-author:HitmanGrahamG,
pubmed-author:Love-GregoryLatisha DLD,
pubmed-author:McCarthyMark IMI,
pubmed-author:OwenKatharine RKR,
pubmed-author:PermuttM AlanMA,
pubmed-author:ShieldsBeverleyB,
pubmed-author:WalkerMarkM,
pubmed-author:WeedonMichael NMN
|
| pubmed:issnType |
Print
|
| pubmed:volume |
53
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
3002-6
|
| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:15504983-Adult,
pubmed-meshheading:15504983-Age of Onset,
pubmed-meshheading:15504983-Chromosomes, Human, Pair 20,
pubmed-meshheading:15504983-DNA-Binding Proteins,
pubmed-meshheading:15504983-Diabetes Mellitus, Type 2,
pubmed-meshheading:15504983-Female,
pubmed-meshheading:15504983-Genetic Variation,
pubmed-meshheading:15504983-Genotype,
pubmed-meshheading:15504983-Great Britain,
pubmed-meshheading:15504983-Hepatocyte Nuclear Factor 4,
pubmed-meshheading:15504983-Heterozygote Detection,
pubmed-meshheading:15504983-Humans,
pubmed-meshheading:15504983-Linkage Disequilibrium,
pubmed-meshheading:15504983-Male,
pubmed-meshheading:15504983-Middle Aged,
pubmed-meshheading:15504983-Phosphoproteins,
pubmed-meshheading:15504983-Promoter Regions, Genetic,
pubmed-meshheading:15504983-Reference Values,
pubmed-meshheading:15504983-Transcription Factors
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.
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| pubmed:affiliation |
Department of Diabetes Research & Vascular Medicine, Peninsula Medical School, Barrack Road, Exeter, UK.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|