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相互作用的结果。为了探讨颈动脉内膜中层厚度(CIMT)、心踝血管指数(CAVI)等动脉粥样硬化临床指标与基因多态性的关系，我们对2000-2012年在日本戈东群岛西部农村地区参加健康体检的1295名日本人(男502名，女793名)进行了横断面研究。分析了MTHFR(Rs1801133)、HDAC4(Rs3791398)、CARKL(Rs465563)和脂联素(Rs1501299)四个与动脉粥样硬化显著相关的基因的多态性分布，其基因分布依次为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%)，CARKL(GG：12.7%，GG：38.9%，TT：7.4%)GA：44.5%，AA：42.8%)。未观察到Cavi和CIMT与基因型之间的显著关联。接下来，我们根据危险基因的数量将其分为五组，并按一组进行关联分析。虽然在CIMT和CAVI中没有观察到明显的相关性，但在CAVI中观察到了阳性趋势。有必要对大量参与者进行进一步的研究，以澄清基因多态与动脉粥样硬化之间的联系。

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.