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GWAS Study

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty.

Mak JKL, Qin C, Krüger M et al.

40764432 PubMed ID
GWAS Study Type
908200 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MJ
Mak JKL
QC
Qin C
KM
Krüger M
KA
Kuukka A
HS
Hägg S
LJ
Lin J
JJ
Jylhävä J
Chapter II

Abstract

Summary of the research findings

Frailty is a clinically relevant phenotype with notable gaps in our understanding of its etiology. Using the Hospital Frailty Risk Score (HFRS) to define frailty, we performed a genome-wide association study in FinnGen (N = 500,737), replicated the results in the UK Biobank (N = 407,463) and performed a meta-analysis. We prioritized genes through colocalization with expression, splicing and protein quantitative trait loci and proteomics integration. We identified 53 independent lead variants associated with frailty (P < 5 × 10-8), of which 45 were novel and not previously reported in the GWAS Catalog. Replication at the individual variant and polygenic risk score of the HFRS (P = 1.86 × 10-522) levels and meta-analysis largely confirmed the findings. Colocalization analysis supported a causal role for several genes, including CHST9, C6orf106 (ILRUN), KHK, MET, APOE, CGREF1 and PPP6C. Additionally, plasma levels of MET, CGREF1 and APOE were associated with HFRS. Our results reveal new genetic contributions to frailty and shed light on its biological basis.

500,737 Finnish ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

908200
Total Participants
GWAS
Study Type
Yes
Replicated
407,463 British ancestry individuals
Replication Participants
European
Ancestry
Finland, U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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