MTHFR基因多态性与基因危险因素交互作用对海南地区脑卒中高危险人群颈动脉内中膜增厚的影响

The relationship of methylenetetrahydrofolate reductase gene polymorphism and gene-risk factors interactions with carotid intima-media thickness in a Hainan population

目的探讨MTHFR基因多态性与基因危险因素交互作用对海南地区未发病的脑卒中高危险人群颈动脉内中膜增厚的影响方法本研究以未发病的脑卒中高危人群作为研究对象,采用SNPstats在线软件平台,分析MTHFR基因的677C>T和1298A>C两个基因位点的基因多态性,同时采用颈动脉超声评估颈动脉内中膜增厚情况,基因多态性与颈动脉内中膜增厚(CIMT)的关联分析用逻辑回归分析。基因危险因素交互作用使用MDR软件分析。结果高血压、糖尿病及高同型半胱氨酸对CIMT有促进作用;677C>T及1298A>C等位基因频率分布两组间无明显差异(P>0.05);677C>T 5个基因模型均与CIMT无明确相关(P>0.05)。1298A>C共显性(A/C,C/C)、显性(A/C-C/C)及Log-additive基因模型均与颈动脉内中膜增厚有显著相关性(P<0.05);单体型C-C与颈动脉内中膜增厚有显著相关性(P=0.0046);1298A>C与危险因素(年龄,性别,高血压,高血脂,糖尿病,房颤,吸烟,卒中家族史,饮酒,BMI,Hhcy)使用MDR软件分析,未发现他们之间有交互作用。结论MTHFR 677C>T基因多态性与海南地区未发病的脑卒中高危险人群颈动脉内中膜增厚无明确相关性,而1298A>C的多个基因型均与海南地区未发病的脑卒中高危险人群颈动脉内中膜增厚显著相关。基因与危险因素无显著交互作用。

Objective To evaluate the relationship of methy-lenetetrahydrofolate reductase(MTHFR) gene polymorphisms and gene-risk factors interactions with the risk of carotid intima-media thickniss(CIMT) in a Hainan population which without stroke. Method Participants were selected from populations with high risk of stroke,but without sroke yet.The SNPstats platform was used to investigate the association between MTHFR gene polymorphisms and CMIT under 5 genetic models(dominant, recessive, codominant,over dominant and additive models). Generisk factors interactions analysis was then performed by multifactor di-mensionality reduction(MDR).Results Hypertension,diabetes and hyperhomocysteinemia(Hhcy)would accelerate CIMT. The allele frequency of 677 C >T and 1298 A > C has no significant difference(P > 0.05). The 5 genetic models of 677 C > T had no significant correlation with CIMT(P > 0.05).The codominant(A/C,C/C),dominant(A/C-C/C)and Log-additive of 1298 A> C had significant correlation with CIMT(P < 0.05). Haplotype C-C had significant correlation with CIMT(P=0.0046).No significant multiplicative and additive interactions were observed in terms of CIMT between1298 A > C polymorphism and age,gender,hypertension,hyperlipidemia,diabetes,atrial fibrillation(AF),smoking,family histry of stroke, drinking, BMI,and homocysteine(Hcy). Conclusions MTHFR 1298 A > C gene polymorphisms had significant correlation with CIMT in unattact populations with high risk of stroke in Hainan, while677 C > T gene polymorphisms had nothing. MTHFR gene polymorphisms,gene-risk factors interactions and CIMT had no significant results.