Genomic analyses in African populations identify novel risk loci for cleft palate.
Alleles
Animals
Black People
/ genetics
Chromosome Mapping
Cleft Palate
/ genetics
Disease Models, Animal
Enhancer Elements, Genetic
Female
Gene Expression
Gene Frequency
Genetic Predisposition to Disease
Genetics, Population
Genome, Human
Genome-Wide Association Study
Genomics
/ methods
Genotype
Humans
Male
Mice
Odds Ratio
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Journal
Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958
Informations de publication
Date de publication:
15 03 2019
15 03 2019
Historique:
received:
22
06
2018
revised:
07
11
2018
accepted:
11
11
2018
pubmed:
20
11
2018
medline:
10
3
2020
entrez:
20
11
2018
Statut:
ppublish
Résumé
Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.
Identifiants
pubmed: 30452639
pii: 5193015
doi: 10.1093/hmg/ddy402
pmc: PMC6400042
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1038-1051Subventions
Organisme : NIEHS NIH HHS
ID : P30 ES005605
Pays : United States
Organisme : NIDCR NIH HHS
ID : R56 DE023575
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200362
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE023575
Pays : United States
Organisme : NCBDD CDC HHS
ID : U01 DD001035
Pays : United States
Organisme : NICHD NIH HHS
ID : HHSN275201100001I
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE008559
Pays : United States
Organisme : NICHD NIH HHS
ID : HHSN275201100001C
Pays : United States
Organisme : NIDCR NIH HHS
ID : R00 DE022378
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE026172
Pays : United States
Organisme : NICHD NIH HHS
ID : HHSN275201100001G
Pays : United States
Organisme : NCBDD CDC HHS
ID : U01 DD001223
Pays : United States
Organisme : NIDCR NIH HHS
ID : R37 DE008559
Pays : United States
Organisme : NIDCR NIH HHS
ID : K99 DE022378
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
Published by Oxford University Press 2018.
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