Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals

Communications biology(2023)

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摘要
Human lifespan is reported to be heritable. Although previous genome-wide association studies (GWASs) have identified several loci, a limited number of studies have assessed the genetic associations with the real survival information on the participants. We conducted a GWAS to identify loci associated with survival time in the Japanese individuals participated in the BioBank Japan Project by carrying out sex-stratified GWASs involving 78,029 males and 59,664 females. Of them, 31,324 (22.7%) died during the mean follow-up period of 7.44 years. We found a novel locus associated with survival ( BET1L ; P = 5.89 × 10 −9 ). By integrating with eQTL data, we detected a significant overlap with eQTL of BET1L in skeletal muscle. A gene-set enrichment analysis showed that genes related to the BCAR1 protein–protein interaction subnetwork influence survival time ( P = 1.54 × 10 −7 ). These findings offer the candidate genes and biological mechanisms associated with human lifespan.
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关键词
Genome-wide association studies,Prognostic markers,Life Sciences,general
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