Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese.
Sarcopenia
single-nucleotide polymorphism (SNP)
whole lean body mass (WLBM)
whole-exome sequencing (WES)
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
08
09
2019
accepted:
27
03
2020
pubmed:
2
6
2020
medline:
12
5
2021
entrez:
2
6
2020
Statut:
ppublish
Résumé
Sarcopenia is a complex polygenic disease, and its molecular mechanism is still unclear. Whole lean body mass (WLBM) is a heritable trait predicting sarcopenia. To identify genomic loci underlying, we performed a whole-exome sequencing (WES) of WLBM variation with high sequencing depth (more than 40*) in 101 Chinese subjects. We then replicated in the major findings in the large-scale UK Biobank (UKB) cohort (N = 217,822) for WLBM. The results of four single-nucleotide polymorphisms (SNPs) were significant both in the discovery stage and replication stage: SNP rs740681 (discovery p = 1.66 × 10
Identifiants
pubmed: 32478482
doi: 10.1002/mgg3.1267
pmc: PMC7434604
doi:
Substances chimiques
Cdh1 Proteins
0
FZR1 protein, human
0
Sterol O-Acyltransferase
EC 2.3.1.26
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1267Subventions
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom
Organisme : NIAMS NIH HHS
ID : R01 AR069055
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR050496
Pays : United States
Organisme : NIA NIH HHS
ID : U19 AG055373
Pays : United States
Organisme : NIDCR NIH HHS
ID : RC2 DE020756
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG026564
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR057049
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_17228
Pays : United Kingdom
Organisme : NIAMS NIH HHS
ID : P50 AR055081
Pays : United States
Organisme : FIC NIH HHS
ID : R03 TW008221
Pays : United States
Informations de copyright
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, LLC.
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