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GWAS Study

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

Akiyama M, Sakaue S, Takahashi A et al.

36737517 PubMed ID
GWAS Study Type
78029 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

AM
Akiyama M
SS
Sakaue S
TA
Takahashi A
IK
Ishigaki K
HM
Hirata M
MK
Matsuda K
MY
Momozawa Y
OY
Okada Y
NT
Ninomiya T
TC
Terao C
MY
Murakami Y
KM
Kubo M
KY
Kamatani Y
Chapter II

Abstract

Summary of the research findings

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.

78,029 Japanese ancestry males

Chapter III

Study Statistics

Key metrics and study information

78029
Total Participants
GWAS
Study Type
No
Replicated
East Asian
Ancestry
Japan
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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