社区人群MTHFR基因多态性与大脑中动脉狭窄的相关研究  

A study of correlation of MTHFR genetic polymorphism with middle cerebral artery stenosis in community people

作　　者：谭双全[1] 刘冰[1] 苏丽丽[2] 付贤[3] 黄海威[1] 黄家星[4] 

机构地区：[1]中山大学附属第一医院神经科,广州510080 [2]中山大学附属第六医院神经科 [3]广州医学院第二附属医院神经科学研究所 [4]香港中文大学威尔斯亲王医院内科及药物治疗系,中国香港

出　　处：《中国神经精神疾病杂志》2012年第10期597-602,共6页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省科技计划基金资助项目(编号:2010B031600051)

摘　　要：目的研究社区汉族人群中亚甲基四氢叶酸还原酶(Methylenetetra-hydrofolate reductase,MTHFR)基因型的分布特征,进一步探讨社区人群中MTHFR C677T基因突变与大脑中动脉狭窄(middle cerebralartery stenosis,MCAS)是否关联。方法整群抽取汉族成年居民1146人,记录其病史资料,并行经颅多普勒(transcranial doppler,TCD)检查。采用聚合酶链反应-限制性内切酶片段长度多态性技术(polymerase chainreaction-restriction fragment length polymorphism,PCR-RFLP)鉴定目标人群MTHFR 677位基因型。结果 1146例居民中MTHFR 677位点C/C野生型占60.6%、T/C杂合型占34.1%、T/T纯合突变型占5.3%,C等位基因占77.6%,T等位基因占22.4%。MCAS组与非MCAS组的等位基因频率分布存在统计学差异(掊2=6.828,P<0.01)、两基因型联合对比(T/C+T/T与C/C:掊2=4.602,P<0.05)及T/T与C/C比较(掊2=5.320,P<0.05)差异也有统计学意义,但T/C与C/C比较(掊2=2.590,P>0.05)无统计学差异;logistic回归显示T/T基因型会增加患MCAS的风险(OR=3.393,95%CI 1.230～9.357)。结论中国社区汉族人群中存在MTHFR C677T基因突变;MTHFR C677T突变存在种族和地域的差异。MTHFR C677T基因多态性与MCAS风险增加有关。Objective To investigate the distribution of Methylenetetrahydrofolate reductase （MTHFR） geno- types of Han people in community, and then to explore the relationship between MTHFR C677T polymorphisms and middle cerebral artery stenosis. Methods One thousand and one huandard fourty-six adult Han people were selected by cluster sampling from the residential communities. Medical history was collected and transcranial Doppler （TCD） examination was performed. Polymerase chain reaction-restriction fragment length polymorphism was used to detect MTHFR 677 genotypes and SPSS 18.0 was used for data analysis. Results The frequency of C/C wild genotype was 60.6%; T/C heterozygous mutant genotype was 34.1%; T/T homozygous mutant genotype was 5.3%; the C allele frequency was 77.6% and the T allele frequency was 22.4%. There was significant difference at distribution between the MCA stenotie and nn-stenotic group of allele frequencies （X^2 = 6.828, P 〈 0.01）, and the two genotypes （T/C＋ T/T and C/C： X^2 = 4.602, P 〈 0.05）. There was significantly difference at the genotype T/T and C/C （X^2 = 5.320, P 〈 0.05） but not at genotype T/C and C/C （X^2 = 2.590, P 〉 0.05）between the groups, The logistic regression analysis showed that the Tr genotype was associated with an increased risk for MCAS （OR = 3.393; 95% CI 1.230-9.357）. Conclusions ② There is a genetic polymorphism of MTHFR C677T in the Han people of community in China.①The frequency of MTHFR C677T polymorphism is dissimilar in different races and regions. ③ The C677T polymorphism of the MTHFR gene is associated with increased risk of MCAS.

关 键 词：亚甲基四氢叶酸还原酶 多态现象遗传 大脑中动脉 狭窄 

分 类 号：R743.3[医药卫生—神经病学与精神病学]