Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Adolescent
Adult
Aged
Blood Pressure
/ genetics
Cardiac Myosins
/ genetics
Cardiomyopathy, Hypertrophic
/ genetics
Carrier Proteins
/ genetics
Case-Control Studies
Formins
/ genetics
Genetic Predisposition to Disease
Genome-Wide Association Study
Heterozygote
Humans
Middle Aged
Myosin Heavy Chains
/ genetics
Polymorphism, Single Nucleotide
Risk Factors
Sarcomeres
/ genetics
Young Adult
Journal
Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
02
05
2020
accepted:
14
12
2020
pubmed:
27
1
2021
medline:
5
3
2021
entrez:
26
1
2021
Statut:
ppublish
Résumé
Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic heterogeneity. Moreover, most patients do not carry such variants. We report a genome-wide association study of 2,780 cases and 47,486 controls that identified 12 genome-wide-significant susceptibility loci for HCM. Single-nucleotide polymorphism heritability indicated a strong polygenic influence, especially for sarcomere-negative HCM (64% of cases; h
Identifiants
pubmed: 33495597
doi: 10.1038/s41588-020-00764-0
pii: 10.1038/s41588-020-00764-0
pmc: PMC8240954
mid: NIHMS1706161
doi:
Substances chimiques
Carrier Proteins
0
FHOD3 protein, human
0
Formins
0
MYH7 protein, human
0
myosin-binding protein C
0
Cardiac Myosins
EC 3.6.1.-
Myosin Heavy Chains
EC 3.6.4.1
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
135-142Subventions
Organisme : Wellcome Trust
ID : 203141
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 090532/Z/09/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : 1964807
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_1102/20
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RE/13/1/30181
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 090532
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : U01 HL117006
Pays : United States
Organisme : British Heart Foundation
ID : RG/18/9/33887
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203141/Z/16/Z
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201543/B/16/Z
Pays : United Kingdom
Investigateurs
Paul Kolm
(P)
Raymond Kwong
(R)
Sarahfaye F Dolman
(SF)
Patrice Desvigne-Nickens
(P)
John P Dimarco
(JP)
Nancy Geller
(N)
Dong-Yun Kim
(DY)
Cheng Zhang
(C)
William Weintraub
(W)
Theodore Abraham
(T)
Lisa Anderson
(L)
Evan Appelbaum
(E)
Camillo Autore
(C)
Colin Berry
(C)
Elena Biagini
(E)
William Bradlow
(W)
Chiara Bucciarelli-Ducci
(C)
Amedeo Chiribiri
(A)
Lubna Choudhury
(L)
Andrew Crean
(A)
Dana Dawson
(D)
Milind Y Desai
(MY)
Eleanor Elstein
(E)
Andrew Flett
(A)
Matthias Friedrich
(M)
Stephen Heitner
(S)
Adam Helms
(A)
Daniel L Jacoby
(DL)
Han Kim
(H)
Bette Kim
(B)
Eric Larose
(E)
Masliza Mahmod
(M)
Heiko Mahrholdt
(H)
Martin Maron
(M)
Gerry McCann
(G)
Michelle Michels
(M)
Saidi Mohiddin
(S)
Sherif Nagueh
(S)
David Newby
(D)
Iacopo Olivotto
(I)
Anjali Owens
(A)
F Pierre-Mongeon
(F)
Sanjay Prasad
(S)
Ornella Rimoldi
(O)
Michael Salerno
(M)
Jeanette Schulz-Menger
(J)
Mark Sherrid
(M)
Peter Swoboda
(P)
Albert van Rossum
(A)
Jonathan Weinsaft
(J)
James White
(J)
Eric Williamson
(E)
Commentaires et corrections
Type : CommentIn
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