载脂蛋白E基因、TOMM40基因多态性与海南省百岁老人长寿的关联性

目的  探讨载脂蛋白E基因、线粒体外膜转位酶同工酶40的rs2075650多态性与海南省百岁老人长寿的关联性。方法  用聚合酶链反应法分析百岁老人组（n =259）和对照组（n =529）载脂蛋白E基因、线粒体外膜转位酶同工酶40的rs2075650的基因型和等位基因频率。结果  ①载脂蛋白Eε2ε3、ε2ε4基因型频率百岁老人组低于对照组；ε2等位基因频率对照组高于百岁老人组。②百岁老人组线粒体外膜转位酶同工酶40型频率AA基因型频率高于对照组；等位基因频率分布差异无统计学意义。按载脂蛋白E基因分为携带ε4和非携带ε4等位基因进行分层分析：携带ε4的AA基因型频率百岁老人组高于对照组；A等位基因频率百岁老人组高于对照组。非携带ε4的GA、AA基因型频率百岁老人组高于对照组。等位基因A在非携带ε4等位基因频率百岁老人组高于对照组。结论  载脂蛋白E和线粒体外膜转位酶同工酶40连锁分析显示，线粒体外膜转位酶同工酶40的rs2075650位点AA基因型与携带ε4与百岁老人长寿相关。等位基因A与携带ε4百岁老人长寿有关联。

Relationship of polymorphisms of APOE and TOMM40 genes with longevity of Hainan centenarians

Objective To study the relationship of polymorphisms of apolipoprotein E (APOE) gene and translocase of outer mitochondrial membrane 40 (TOMM40) gene with longevity of Hainan centenarians. Methods Genotype and variation of allele frequencies of APOE gene and TOMM40 gene rs2075650 were analyzed in 259 cases of centenarian group and 529 cases of control group by polymerase chain reaction. Results The frequency of APOE ε2ε3 and ε2ε4 genotypes in the centenarian group was lower than that of the control group. The ε2 allele frequency of the control group was higher than that of the centenarian group. The frequency of AA genotype of TOMM40 gene in the centenarian group was higher than that of the control group, but there was no statistically significant difference in the allele frequency distribution. Stratification analysis was carried out based on carrying ε4 allele of APOE gene or not. In the people who carried ε4, the frequency of AA genotype of the centenarian group was higher than that of the control group, and the frequency of A allele of the centenarian group was also higher than that of the control group. In the people who did not carry ε4, the frequency of GA and AA genotypes of the control group was lower than that of  the centenarian group, and the same with the frequency of A allele. Conclusions Linkage analysis of APOE and TOMM40 genes showed that TOMM40 gene rs2075650 AA genotype and APOE ε4 are linked with longevity. Allele A may also be associated with longevity of the centenarians carrying APOE ε4.