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Evidence from single nucleotide polymorphism analyses of ADVANCE study demonstrates EFNB3 as a hypertension risk gene.

Sci Rep. 2017 Mar 08;7:44114
Johanne Tremblay 1 , Yujia Wang 1 , John Raelson 1 , Francois-Christophe Marois-Blanchet 1 , Zenghui Wu 1 , Hongyu Luo 1 , Edward Bradley 1 , John Chalmers 2 , Mark Woodward 3 , Stephen Harrap 4 , Pavel Hamet 1 , Jiangping Wu 1
Johanne Tremblay 1 , Yujia Wang 1 , John Raelson 1 , Francois-Christophe Marois-Blanchet 1 , Zenghui Wu 1 , Hongyu Luo 1 , Edward Bradley 1 , John Chalmers 2 , Mark Woodward 3 , Stephen Harrap 4 , Pavel Hamet 1 , Jiangping Wu 1
+ et al

[No authors listed]

Author information
  • 1 Research Centre, Centre hospitalier de l'Université de Montréal (CRCHUM), Montreal, Quebec H2X 0A9, Canada.
  • 2 The George Institute for Global Health, University of Sydney Sydney, New South Wales, 2006, Australia.
  • 3 The George Institute for Global Health, University of Oxford, Oxford, UK.
  • 4 Department of Physiology, University of Melbourne, Victoria 3010, Australia.

摘要

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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