Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.
GWAS
family study
genetic factors in OFC
genetic heterogeneity
multiethnic
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2021
2021
Historique:
received:
26
10
2020
accepted:
15
03
2021
entrez:
26
4
2021
pubmed:
27
4
2021
medline:
27
4
2021
Statut:
epublish
Résumé
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic and vary in prevalence by ethnicity. Africans have the lowest prevalence of OFCs (~ 1/2,500), Asians have the highest prevalence (~1/500), Europeans and Latin Americans lie somewhere in the middle (~1/800 and 1/900, respectively). Thus, ethnicity appears to be a major determinant of the risk of developing OFC. The Pittsburgh Orofacial Clefts Multiethnic study was designed to explore this ethnic variance, comprising a large number of families and individuals (~12,000 individuals) from multiple populations worldwide: US and Europe, Asians, mixed Native American/Caucasians, and Africans. In this current study, we analyzed 2,915 OFC cases, 6,044 unaffected individuals related to the OFC cases, and 2,685 controls with no personal or family history of OFC. Participants were grouped by their ancestry into African, Asian, European, and Central and South American subsets, and genome-wide association run on the combined sample as well as the four ancestry-based groups. We observed 22 associations to cleft lip with or without cleft palate at 18 distinct loci with
Identifiants
pubmed: 33898419
doi: 10.3389/fcell.2021.621482
pmc: PMC8062975
doi:
Types de publication
Journal Article
Langues
eng
Pagination
621482Subventions
Organisme : NIDCR NIH HHS
ID : R01 DE009886
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Organisme : NIDCR NIH HHS
ID : R21 DE016930
Pays : United States
Informations de copyright
Copyright © 2021 Mukhopadhyay, Feingold, Moreno-Uribe, Wehby, Valencia-Ramirez, Muñeton, Padilla, Deleyiannis, Christensen, Poletta, Orioli, Hecht, Buxó, Butali, Adeyemo, Vieira, Shaffer, Murray, Weinberg, Leslie and Marazita.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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