Association Analysis Of Polymorphisms In ROCK2with Coronary Artery Disease In A Chinese Han Population

Aim The Rho/Rho-kinase pathway has an important role for the pathogenesis ofcardiovascular disease because it participate in the various processes of atherosclerosisincluding endothelial dysfunction, infammation and vascular smooth muscle cellproliferation. In this study, we hypothesized that ROCK2contributed genetic susceptibilityfor coronary artery disease (CAD) in a Chinese population.Methods We looked for new variants by direct sequencing of all exons of ROCK2in48unrelated individual, and then we genotyped three single nucleotide polymorphisms(SNPs) by Taqman technology in a total of1344CAD cases and1267controls.Results By sequencing, we identified eight SNPs, two of them led to synonymouspolymorphisms (rs2230775, rs55839233and rs56304104), three of them located in the3′untranslated region (rs71932930, rs73915393and rs978906) and three of them led tonon-synonymous polymorphisms (rs2230774, Thr431Asn; and rs1130157, Arg83Lys).Four of them are fare and the other four SNPs are common variants, and rs71932930is instrong linkage disequilibrium with rs978906. Neither genotype distributions nor the allelefrequencies for the rs978906, rs56304104or rs71932930showed a significant differencebetween the groups. Additionally, none of these SNPs is associated with the extent ofcoronary atherosclerosis or hypertension. Conclusions With the current sample size, we did not find any common variant inROCK2confers a major contribution to the risk of CAD, but can not exclude the possibilityof missed non-coding functional variants or rare coding variants.