01599nas a2200253 4500000000100000008004100001100001600042700001800058700001600076700001900092700002100111700001500132700001700147700004000164700001500204700001500219700001900234700001700253245012300270300001000393490000600403520092200409022001401331 2017 d1 aHamet Pavel1 aWoodward Mark1 aChalmers J.1 aHarrap Stephen1 aTremblay Johanne1 aWang Yujia1 aRaelson John1 aMarois-Blanchet Francois-Christophe1 aWu Zenghui1 aLuo Hongyu1 aBradley Edward1 aWu Jiangping00aEvidence from single nucleotide polymorphism analyses of ADVANCE study demonstrates EFNB3 as a hypertension risk gene. a441140 v73 a
EPH kinases and their ligands, ephrins (EFNs), have vital and diverse biological functions. We recently reported that Efnb3 gene deletion results in hypertension in female but not male mice. These data suggest that EFNB3 regulates blood pressure in a sex- and sex hormone-dependent way. In the present study, we conducted a human genetic study to assess the association of EFNB3 single nucleotide polymorphisms with human hypertension risks, using 3,448 patients with type 2 diabetes from the ADVANCE study (Action in Diabetes and Vascular Disease: Peterax and Diamicron MR Controlled Evaluation). We have observed significant association between 2 SNPs in the 3' untranslated region or within the adjacent region just 3' of the EFNB3 gene with hypertension, corroborating our findings from the mouse model. Thus, our investigation has shown that EFNB3 is a hypertension risk gene in certain individuals.
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