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GWAS Study

Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.

Joshi PK, Fischer K, Schraut KE et al.

27029810 PubMed ID
GWAS Study Type
299843 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JP
Joshi PK
FK
Fischer K
SK
Schraut KE
CH
Campbell H
ET
Esko T
WJ
Wilson JF
Chapter II

Abstract

Summary of the research findings

Lifespan is a trait of enormous personal interest. Research into the biological basis of human lifespan, however, is hampered by the long time to death. Using a novel approach of regressing (272,081) parental lifespans beyond age 40 years on participant genotype in a new large data set (UK Biobank), we here show that common variants near the apolipoprotein E and nicotinic acetylcholine receptor subunit alpha 5 genes are associated with lifespan. The effects are strongly sex and age dependent, with APOE ɛ4 differentially influencing maternal lifespan (P=4.2 × 10(-15), effect -1.24 years of maternal life per imputed risk allele in parent; sex difference, P=0.011), and a locus near CHRNA3/5 differentially affecting paternal lifespan (P=4.8 × 10(-11), effect -0.86 years per allele; sex difference P=0.075). Rare homozygous carriers of the risk alleles at both loci are predicted to have 3.3-3.7 years shorter lives.

138,536 British ancestry mothers, 133,545 British ancestry fathers

Chapter III

Study Statistics

Key metrics and study information

299843
Total Participants
GWAS
Study Type
Yes
Replicated
24,168 European ancestry individuals, 681 African ancestry individuals, 962 Afro-Caribbean individuals, 1,613 South Asian ancestry individuals, 338 Chinese ancestry individuals
Replication Participants
East Asian, South Asian, African American or Afro-Caribbean, European, African unspecified
Ancestry
U.K., Estonia
Recruitment Country
Chapter IV

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