Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts.
Journal
Human heredity
ISSN: 1423-0062
Titre abrégé: Hum Hered
Pays: Switzerland
ID NLM: 0200525
Informations de publication
Date de publication:
16 Feb 2022
16 Feb 2022
Historique:
received:
01
09
2021
accepted:
09
02
2022
entrez:
16
2
2022
pubmed:
17
2
2022
medline:
17
2
2022
Statut:
aheadofprint
Résumé
Enamel hypoplasia causes reduction in the thickness of affected enamel and is one of the most common dental anomalies. This defect is caused by environmental and/or genetic factors that interfere with tooth formation, emphasizing the importance of investigating enamel hypoplasia on an epidemiological and genetic level. A genome-wide association of enamel hypoplasia was performed in multiple cohorts, overall comprising 7,159 individuals ranging in age from 7-82 years. Mixed-models were used to test for genetic association while simultaneously accounting for relatedness and genetic population structure. Meta-analysis was then performed. More than 5 million single-nucleotide polymorphisms were tested in individual cohorts. Analyses of the individual cohorts and meta-analysis identified association signals close to genome-wide significance (P < 510-8), and many suggestive association signals (510-8 < P < 510-6) near genes with plausible roles in tooth/enamel development. The strongest association signal (P = 1.5710-9) was observed near BMP2K in one of the individual cohorts. Additional suggestive signals were observed near genes with plausible roles in tooth development in the meta-analysis, such as SLC4A4 which can influence enamel hypoplasia. Additional human genetic studies are needed to replicate these results and functional studies in model systems are needed to validate our findings.
Identifiants
pubmed: 35172313
pii: 000522642
doi: 10.1159/000522642
pmc: PMC9378791
mid: NIHMS1788797
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDCR NIH HHS
ID : R00 DE024571
Pays : United States
Organisme : NIDCR NIH HHS
ID : R03 DE024264
Pays : United States
Organisme : NIDCR NIH HHS
ID : U01 DE024425
Pays : United States
Organisme : NIDCR NIH HHS
ID : U01 DE018903
Pays : United States
Organisme : NIDCR NIH HHS
ID : R21 DE016930
Pays : United States
Organisme : NIDCR NIH HHS
ID : K99 DE024571
Pays : United States
Organisme : NCBDD CDC HHS
ID : R01 DD000295
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE014899
Pays : United States
Organisme : NIMHD NIH HHS
ID : U54 MD007587
Pays : United States
Informations de copyright
S. Karger AG, Basel.
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