Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population

Apolipoprotein e (apoe), translocase of outer mitochondrial membrane 40 homolog (tomm40) and apolipoprotein c-i (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 indexterma–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 indextermg–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.