亚甲基四氢叶酸还原酶A1298C多态性与高同型半胱氨酸血症的相关性

Association between methylenetetrahydrofolate reductase gene A1298C polymorphism and hyperhomocysteinemia

目的探讨天津市汉族老年心血管病人群5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)基因A1298C多态性与高同型半胱氨酸血症(hyperhomocysteinemia,HHcy)的相关性。方法选择2015年1月~2016年7月在天津市胸科医院心内科就诊的患者841例,根据同型半胱氨酸(homocysteine,Hcy)水平分为HHcy组261例和对照组580例。采用PCR-RFLP技术对入选对象行A1298C多态性基因分型,并进行比较。结果 HHcy组与对照组A1298C多态性的基因型分布比较,差异有统计学意义(P=0.046),等位基因频率比较,差异无统计学意义(P=0.100)。全体研究对象AA、AC和CC基因型携带者Hcy水平和HHcy发生率比较,差异有统计学意义(P=0.007,P=0.040)。在调整了年龄、性别等危险因素后,logistic回归分析显示,携带AC基因型(OR=0.60,95%CI:0.41~0.87,P=0.008)及C等位基因(OR=0.64,95%CI:0.44~0.92,P=0.015)均与HHcy的发生独立相关。结论 MTHFR基因A1298C多态性的AC基因型可能是天津市汉族心血管病人群发生HHcy的一个保护因素。

Objective To study the association between 5,10-methylenetetrahydrofolate reductase（MTHFR）gene A1298 Cpolymorphism and hyperhomocysteinemia（HHcy）in Tianjin elderly Han cardiovascular disease patients.Methods Eight hundred and forty-one elderly patients admitted to our hospital from January 2015 to July 2016 were divided into HHcy group（n=261）and control group（n=580）according to their serum Hcy level.Genotypes of MTHFR A1298 C were identified and compared by PRC-RFLP.Results The distribution of A1298 Cpolymorphism was significantly different between HHcy group and control group（P=0.046）.No significant difference was found in the distribution of alleles between the two groups（P=0.100）.The serum level of Hcy and the prevalence of HHcy were significantly different in all the AA,AC and CC gene carriers（P=0.007,P=0.040）.Logistic regression analysis showed that AC and allele C were the independent risk factors for HHcy after adjustment for age,gender and other risk factors（OR=0.60,95%CI：0.41-0.87,P=0.008;OR=0.64,95%CI：0.44-0.92,P=0.015）.Conclusion The AC genotype of MTHFR gene A1298 Cpolymorphism is a protective factor for HHcy in Tianjin elderly Han cardiovascular disease patients.