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 methy-lenetetrahydrofolate 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(Hhcy)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>T5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 MTHFR677C>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). Gene- risk factors interactions analysis was then performed by multifactor di-mensionality reduction(MDR). Results Hypertension, diabetes and hyperhomocysteinemia would accelerate CIMT. The allele frequency of 677C>T and 1298A>C has no significant difference(P>0.05). The 5 genetic models of 677C>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 1298A>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 between 1298 A>C polymorphism and age, gender, hypertension, hyperlipidemia, diabetes, atrial fibrillation(AF), smoking, family histry of stroke,drinking, BMI, and homocysteine(Hcy). Conclusion MTHFR 1298A>C gene polymorphisms had significant correlation with CIMT in unattact populations with high risk of stroke in Hainan, while 677C>T gene polymorphisms had nothing. MTHFR gene polymorphisms, gene- risk factors interactions and CIMT had no significant results.