Abstract
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 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.
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Acknowledgements
This work was supported by grants from the National Natural Science Foundation of China (Grant No.31460290), Department of Science and Technology of Hainan Province (KJHZ2013-16 and ZDXM20090805), the Research Start-Up Fund in Hainan Medical College for Dr Lin, the Young Scientists Fund of the National Natural Science Foundation of China (Grant No.31100904), Fund for Less Developed Regions of the National Natural Science Foundation of China (Grant No. 81460184). In addition, we thank Dr Zhengwen Jiang, Dr Yan Liu and Dr Ying Wang (Genesky Biotechnologies Inc., Shanghai, China) for technical support.
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Lin, R., Zhang, Y., Yan, D. et al. Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population. J Hum Genet 61, 323–328 (2016). https://doi.org/10.1038/jhg.2015.150
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DOI: https://doi.org/10.1038/jhg.2015.150
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