中国南方群体线粒体基因变异及载脂蛋白E基因与长寿的关联性

背景:有研究表明线粒体基因变异与长寿相关,但在中国南方群体中线粒体单倍组D及其亚组与长寿的相关性研究至今少有报道,并且线粒体单倍组D及其亚组与载脂蛋白E基因相互作用对长寿的影响未见报道.目的:探讨在中国南方群体中线粒体单倍组D及其亚组与长寿的相关性,以及线粒体单倍组D及其亚组与载脂蛋白E基因的相互作用.方法:于2007／2008在广西壮族自治区巴马县选取对象1 038人,包括长寿组367人(年龄>90岁)和与长寿组无亲缘关系的当地健康对照组671人(年龄40～60岁).采用多聚酶链反应-限制性片段长度多态性技术检测线粒体单倍组D及其亚组(D4和D4a)的分布情况,并通过分层分析调整性别和载脂蛋白E基因混杂因素的作用.结果与结论:线粒体单倍组D及其亚组与长寿无明显相关性(P>0.05).按照性别进行分层分析后,在女性和男性群体中仍未发现线粒体单倍组D及其亚组与长寿的关联(P>0.05).然而,对载脂蛋白E基因分层分析后,在载脂蛋白E 携带者中长寿组和对照组线粒体单倍组D的分布频率差异有显著性意义(P<0.05).结果提示线粒体单倍组D可能是与载脂蛋白E基因的相互作用对长寿产生影响.

MtDNA variants,apolipoprotein E gene and longevity in Southern Chinese population

BACKGROUND:MtDNA haplogroup D has been shown to influence longevity trait. However,the effects that mtDNA haplogroup D (and its subhaplogroups) have upon longevity in Southern Chinese population have rarely been reported,and the effect of reaction of mtDNA haplogroup D (and its subhaplogroup) and apolipoprotein E(APOE) gene on longevity remains poorly understood.OBJECTIVE:To explore the association between mtDNA haplogroup D(and its subhaplogroup) and longevity in southern Chinese population,and the interaction of mtDNA haplogroup D(and its subhaplogroup) with APOE gene.METHODS:A total of 1 038 people were selected from Bama,Guangxi between 2007 and 2008.including 367 long-lived individuals (aged>90 years) and 671 local and unrelated younger controls (aged 40-60 years).Using polymerase chain reaction-restriction fragment length polymorphism,the distribution of mtDNA haplogroup D and its subhaplogroup(D4,D4a) was tested.The confounding effect of gender and APOE gene was detected by stratification analysis.RESULTS AND CONCLUSION:There was no significant correlation between mtDNA haplogroup D (and its subhaplogroup) and longevity (P>0.05).Stratification analysis by gender showed no significant difference for frequencies distribution of mtDNA haplogroup D and its subhaplogroup(D4,D4a)between long-lived individuals and controls in women and men (P>0.05).However,the frequency distribution of mtDNA haplogroups D was different between long-lived individuals and controls with APOE .05) through stratification analysis by APOE gene.Results show that mDNA haplogroup D may affect longevity by interacting with APOE gene.