Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population
Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population
复制标题
TOMM40/APOE/APOC1 区域常见变异与中国人群寿命的关联
DOI：
10.1038/jhg.2015.150
复制
发表时间：
2016-04-01
影响因子：
3.5
通讯作者：
Cai, Wangwei
中科院分区：
文献类型：
--
作者：
Lin, Rong;Zhang, Yunxia;Cai, Wangwei
载脂蛋白E（APOE），线粒体外膜的易位酶40同源物（TOMM40）和载脂蛋白C-I（APOC1）可以通过明显的延迟或从与年龄相关的疾病中逃脱来延长寿命。这项研究旨在阐明中国人群中人类长寿与Tomm40/ApoE/Apoc1区域的遗传变异的关联。在616个无关长寿的个体和846个年轻对照中，成功地基因分型在Tomm40/apoE/apoc1区域中的十个TAG单核苷酸多态性（SNP）。在10个SNP中，在Tomm40上游5'的10个SNP中，与人类寿命（g/a-a/a/a vs g/g：优势比：= 1.59，95％的置信区间（CI）= 1.20-2.09，p = 0.0011，Bonferroni校正P（PC）= 0.033）。 The haplotype analysis suggested that individuals carrying the haplotype A-A-A-A-T-A-T-G-C-A (rs7254892-rs157580-rs2075649-rs2075650-rs157582-rs8106922-rs1160985-rs405697-rs439401-rs445925) tended to have longer lifespan than those carrying the most common haplotype G-G-A-A-C-A-C-A-T-G (OR= 1.59, 95 ％CI = 1.19-2.12，P = 0.0018，PC = 0.0216）。这些发现表明，Tomm40/apoe/apoc1区域中的变体可能与人类寿命有关。需要进一步的研究来确定影响人类寿命的因果遗传变异。
Apolipoprotein E (APOE), translocase of outer mitochondrial membrane 40 homolog (TOMM40) and apolipoprotein CI (APOC1) may extend lifespan by marked delay or escape from age-related diseases. This study aimed to elucidate the association of human longevity with genetic variations in TOMM40/APOE/APOC1 region in a Chinese population. Ten tag single-nucleotide polymorphisms (SNPs) in the TOMM40/APOE/APOC1 region were successfully genotyped in 616 unrelated long-lived individuals and 846 younger controls. Of the 10 SNPs, rs7254892 in 5′ upstream of TOMM40 showed significant association with human longevity (G/A–A/A vs G/G: odds ratio (OR)= 1.59, 95% confidence interval (CI)= 1.20–2.09, P= 0.0011, Bonferroni corrected P (Pc)= 0.033). The haplotype analysis suggested that individuals carrying the haplotype A–A–A–A–T–A–T–G–C–A (rs7254892–rs157580–rs2075649–rs2075650–rs157582–rs8106922–rs1160985–rs405697–rs439401–rs445925) tended to have longer lifespan than those carrying the most common haplotype G–G–A–A–C–A–C–A–T–G (OR= 1.59, 95% CI= 1.19–2.12, P= 0.0018, Pc= 0.0216). These findings indicated that variants in TOMM40/APOE/APOC1 region might be associated with human longevity. Further studies are needed to identify the causal genetic variants influencing human longevity.