【摘要】 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1038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Eε4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。更多还原

【Abstract】 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 ε4 carriers(P<0.05) through stratification analysis by APOE gene.Results show that mDNA haplogroup D may affect longevity by interacting with APOE gene.更多还原