http://purl.uniprot.org/citations/18728231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/18728231 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveSingle nucleotide polymorphisms (SNPs) in the P2 promoter region of HNF4A were originally shown to be associated with predisposition for type 2 diabetes in Finnish, Ashkenazi, and, more recently, Scandinavian populations, but they generated conflicting results in additional populations. We aimed to investigate whether data from a large-scale mapping approach would replicate this association in novel Ashkenazi samples and in U.K. populations and whether these data would allow us to refine the association signal.Research design and methodsUsing a dense linkage disequilibrium map of 20q, we selected SNPs from a 10-Mb interval centered on HNF4A. In a staged approach, we first typed 4,608 SNPs in case-control populations from four U.K. populations and an Ashkenazi population (n = 2,516). In phase 2, a subset of 763 SNPs was genotyped in 2,513 additional samples from the same populations.ResultsCombined analysis of both phases demonstrated association between HNF4A P2 SNPs (rs1884613 and rs2144908) and type 2 diabetes in the Ashkenazim (n = 991; P < 1.6 x 10(-6)). Importantly, these associations are significant in a subset of Ashkenazi samples (n = 531) not previously tested for association with P2 SNPs (odds ratio [OR] approximately 1.7; P < 0.002), thus providing replication within the Ashkenazim. In the U.K. populations, this association was not significant (n = 4,022; P > 0.5), and the estimate for the OR was much smaller (OR 1.04; [95%CI 0.91-1.19]).ConclusionsThese data indicate that the risk conferred by HNF4A P2 is significantly different between U.K. and Ashkenazi populations (P < 0.00007), suggesting that the underlying causal variant remains unidentified. Interactions with other genetic or environmental factors may also contribute to this difference in risk between populations."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.org/dc/terms/identifier | "doi:10.2337/db08-0719"xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Deloukas P."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Walker M."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Zhao J."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Whittaker P."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Hunt S."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "McCarthy M.I."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Glaser B."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Hattersley A.T."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Permutt M.A."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Zeggini E."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Wheeler E."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Barroso I."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Wareham N.J."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Delgado M."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Luan J."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Frayling T.M."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Weedon M.N."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Venkatesh R."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Wasson J."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Neuman R.J."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Hitman G."xsd:string |
http://purl.uniprot.org/citations/18728231 | http://purl.uniprot.org/core/author | "Sherva R."xsd:string |