The physiological polymorphism of atherosclerosis investigated by genetic and environmental factors

大多数动脉粥样硬化病例是多种遗传和环境因素相互作用的结果。为研究基因多态性与颈动脉内膜中层厚度（CIMT）和心踝血管指数（CAVI）等动脉粥样硬化临床参数之间的关系，我们对2000年至2012年在后藤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等四个基因的多态性，（rs1801133），HDAC4（rs3791398），CARKL（rs465563）和脂联素（rs1501299）与动脉粥样硬化有显著相关性，其基因型分布如下：MTHFR（CC：43.2%，CT：46.5%和TT：10.3%）、脂联素（GG：53.7%，GT：38.9%和TT：7.4%）、HDAC 4（GG：80.4%，GA：18.5%和AA：1.1%）和CARKL（GG：12.7%，GA：44.5%和AA：42.8%）。基因型与CAVI和CIMT无显著相关性。接下来，我们根据风险基因型的数量分为五组，并根据一组分析关联。虽然CIMT和CAVI之间没有显著的相关性，但CAVI中观察到了正趋势。进一步的大样本研究对于阐明基因多态性与动脉粥样硬化的关系是必要的。

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.