Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.
body mass index
central obesity
exome sequencing
height
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
12 01 2023
12 01 2023
Historique:
received:
01
08
2022
accepted:
22
11
2022
entrez:
26
12
2022
pubmed:
27
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
Anthropometric traits, measuring body size and shape, are highly heritable and significant clinical risk factors for cardiometabolic disorders. These traits have been extensively studied in genome-wide association studies (GWASs), with hundreds of genome-wide significant loci identified. We performed a whole-exome sequence analysis of the genetics of height, body mass index (BMI) and waist/hip ratio (WHR). We meta-analyzed single-variant and gene-based associations of whole-exome sequence variation with height, BMI, and WHR in up to 22,004 individuals, and we assessed replication of our findings in up to 16,418 individuals from 10 independent cohorts from Trans-Omics for Precision Medicine (TOPMed). We identified four trait associations with single-nucleotide variants (SNVs; two for height and two for BMI) and replicated the
Identifiants
pubmed: 36568030
doi: 10.1016/j.xhgg.2022.100163
pii: S2666-2477(22)00080-X
pmc: PMC9772568
doi:
Substances chimiques
LECT2 protein, human
0
Intercellular Signaling Peptides and Proteins
0
CEP63 protein, human
0
Cell Cycle Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
100163Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL153460
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008898
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009974
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK089256
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL120393
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL131136
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL149683
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL102419
Pays : United States
Organisme : NHLBI NIH HHS
ID : R21 HL140419
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL105756
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK122503
Pays : United States
Organisme : NCATS NIH HHS
ID : KL2 TR001109
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003273
Pays : United States
Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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