The physiological polymorphism of atherosclerosis investigated by genetic and environmental factors

大多数动脉粥样硬化是多种遗传和环境因素共同作用的结果。为了研究基因多态性与动脉粥样硬化临床参数（如颈动脉内膜-中膜厚度（CIMT）和心-踝关节血管指数（CAVI））之间的关系，我们对2000年至2012年在后户群岛西部农村社区参加一般健康检查的1,295名日本人（502名男性和793名女性）进行了横断面研究。我们分析了MTHFR（rs1801133）、HDAC4（rs3791398）、CARKL（rs465563）和脂联素（rs1501299）这四个与动脉粥样硬化有显著关系的基因的多态性。4个基因的基因型分布分别为MTHFR （CC: 43.2%, CT: 46.5%, TT: 10.3%）、脂联素（GG: 53.7%, GT: 38.9%, TT: 7.4%）、HDAC4（GG: 80.4%, GA: 18.5%, AA: 1.1%）和CARKL（GG: 12.7%, GA: 44.5%, AA: 42.8%）。基因型与CAVI和CIMT均无显著相关性。接下来，我们根据风险基因型的数量将其分为五组，并按组分析其相关性。虽然CIMT与CAVI无显著相关性，但CAVI呈阳性趋势。为了明确基因多态性与动脉粥样硬化之间的关系，有必要进一步开展大量参与者的研究。

Most cases of atherosclerosis result from the interactions of multiple genetic and environmental factors. To investigate the association between gene polymorphisms and clinical parameter of atherosclerosis such as carotid intima-media thickness (CIMT) and cardio-ankle vascular index (CAVI), we conducted cross-sectional study of 1,295 Japanese (502 men and 793 women) who participated in a general health check in western rural community of the Goto Islands from 2000 to 2012. We analyzed polymorphisms of four genes such as MTHFR(rs1801133), HDAC4(rs3791398), CARKL(rs465563), and Adiponectin(rs1501299) which were reported the significant relation with atherosclerosis.The genotype distributions of four genes were as follows, MTHFR (CC: 43.2%, CT: 46.5%and TT: 10.3%), Adiponectin(GG: 53.7%, GT: 38.9%, and TT: 7.4%), HDAC4(GG: 80.4%, GA: 18.5%, and AA: 1.1%), and CARKL(GG: 12.7%, GA: 44.5%, and AA: 42.8%). No significant association between genotype and CAVI nor CIMT was observed. Next, we categorized into five groups based on the number of risky genotype and analyzed the association according to a group. Although no significant association was observed both in CIMT and CAVI, positive tendency was observed in CAVI. Further investigation with large number of participants is necessary to clarify the association between gene polymorphism and atherosclerosis.