Gene Team in Blood Pressure Genetics
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- blood pressure
- high blood pressure
- human; genomics
- renin–angiotensin system
Renin–angiotensin system (RAS) genes were the first cab off the rank when the search for the molecular genetic basis of hypertension began 3 decades ago.1,2 Despite an enormous amount of research over the years, no consistent evidence has, however, emerged to convincingly implicate any of the RAS genes in essential hypertension etiology.
See Article by Scurrah et al
In the current issue, Scurrah et al3 report findings from a comprehensive study examining association of systolic blood pressure (SBP) with 88 tagging single nucleotide polymorphisms (SNPs) in and near the renin gene (REN), angiotensinogen gene (AGT), angiotensin-converting enzyme gene (ACE), angiotensin II type 1 receptor gene (AGTR1), and aldosterone synthase gene (CYP11B2) in 2872 individuals from 809 pedigrees in the Victorian Family Heart Study.3 Two SNPs at the ACE locus and 1 at AGTR1 were associated with 1.7 to 2.5 mm Hg lower SBP. The researchers also examined sex differences, finding 2 SNPs at the AGT locus and 1 at ACE were associated with SBP in males, as was the case for a different SNP at ACE in females. They further noted interactions between another 14 individual SNPs and SBP. Of these, 2 SNP pairs were at REN, 1 was at AGT, and 1 was at AGTR1. An SNP at CTP11B2 was seen in 5 separate pairs of SNPs. The authors postulate that sex-dependent and epistatic effects (ie, gene–gene interactions, which can often involve the suppression of one gene by another) could explain the well-known inconsistencies among previous studies of genetic effects on blood pressure (BP) and other phenotypes. Scurrah et al3 provide a Circos plot to represent the top 100 SNP–SNP interactions within and between each of the RAS genes studied.
These kinds of association findings, of SNP(s) and a phenotype, are …