TOMM40基因rs2075650位点多态性与脑梗死的关系

Relationship between rs2075650 polymorphism of TOMM40 gene and cerebral infarction

目的探讨线粒体外膜转移酶40(TOMM40)基因rs2075650位点多态性的分布及其与武汉地区中老年人脑梗死发生的关系。方法运用高分辨率熔解曲线技术对507例脑梗死患者和510例体检健康者的TOMM40基因rs2075650位点进行基因型检测。选取80例患者和80例体检健康者,运用实时荧光定量聚合酶链反应检测TOMM40 mRNA的表达水平。用哈迪-温伯格技术检测对照组的群体代表性。结果两组患者TOMM40基因rs2075650位点AA、AG及GG基因型频率比较,差异有统计学意义(P <0.05),两组的A、G等位基因频率比较,差异有统计学意义(P <0.05)。两组患者显性模型比较,差异有统计学意义(P <0.05),两组患者隐性模型比较,差异无统计学意义(P>0.05)。脑梗死患者TOMM40 mRNA相对表达量低于对照组(P <0.05)。结论武汉地区中老年人群TOMM40 rs2075650位点的多态性可能与脑梗死的发病相关。

Objective To investigate the association between rs2075650 polymorphism of translocase of outer mitochondrial membrane 40(TOMM40)gene and cerebral infarction in middle-aged and elderly people of Wuhan.Methods TOMM40 rs2075650 locus was genotyped using the high resolution melting(HRM)method in 507 cerebral infarction patients(case group)and 510 healthy controls(control group).Fluorescence quantitative polymerase chain reaction was performed to detect TOMM40 mRNA expression in 80 cases and 80 controls.Hardy-Weinberg law was used to test the group representativeness of the controls.The differences between the two groups were analyzed by the Student’s t-test,nonparametric test and Chi-square test.Results The frequencies of AA,AG and GG genotypes at rs2075650 locus of TOMM40 gene were significantly different between the case group and the control group(P<0.05),and so was the allele frequency of A and G between the two groups(P<0.05).There was a significant difference in dominant model(AA vs.AG+GG)between the two groups(P<0.05),however,there was no significant difference in recessive model(GG vs.AG+AA)between the two groups(P>0.05).The expression of TOMM40 mRNA in the control group was higher than in the case group(P<0.05).Conclusions The rs2075650 polymorphism of TOMM40 gene may be related with cerebral infarction in middle-aged and elderly people of Wuhan.