Details:

Alternative Title:
Hum Hered
Publisher's site:
http://dx.doi.org/10.1159/000522642
Personal Author:
Alotaibi, Rasha N. ; Howe, Brian J. ; Moreno Uribe, Lina M. ; Sanchez, Carla ; Deleyiannis, Frederic W.B. ; ... More +
Alotaibi, Rasha N. ; Howe, Brian J. ; Moreno Uribe, Lina M. ; Sanchez, Carla ; Deleyiannis, Frederic W.B. ; Padilla, Carmencita ; Poletta, Fernando A. ; Orioli, Ieda M. ; Buxó, Carmen J. ; Wehby, George L. ; Vieira, Alexandre R. ; Murray, Jeffrey ; Valencia-Ramírez, Consuelo ; Restrepo Muñeton, Claudia P. ; Long, Ross E. ; Shaffer, John R. ; Reis, Steven E. ; Weinberg, Seth M. ; Neiswanger, Katherine ; McNeil, Daniel W. ; Marazita, Mary L. Less -
Description:
Introduction:

Enamel hypoplasia causes a 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.

Methods:

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.

Results:

Analyses of the individual cohorts and meta-analysis identified association signals close to genome-wide significance (P < 5×10−8), and many suggestive association signals (5×10−8 < P < 5×10−6) near genes with plausible roles in tooth/enamel development.

Discussion/Conclusion:

The strongest association signal (P = 1.57×10−9) 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.


Subject:
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Article Dental Anomalies Enamel Hypoplasia Genetics GWAS Multiethnic
Source:
Hum Hered.
Pubmed ID:
35172313
Pubmed Central ID:
PMC9378791
Document Type:
Journal Article
Funding:
S21 MD001830/MD/NIMHD NIH HHSUnited States/ ; R00 DE024571/DE/NIDCR NIH HHSUnited States/ ; R03 DE024264/DE/NIDCR NIH HHSUnited States/ ; U01 DE024425/DE/NIDCR NIH HHSUnited States/ ; U01 DE018903/DE/NIDCR NIH HHSUnited States/ ; ... More +
S21 MD001830/MD/NIMHD NIH HHSUnited States/ ; R00 DE024571/DE/NIDCR NIH HHSUnited States/ ; R03 DE024264/DE/NIDCR NIH HHSUnited States/ ; U01 DE024425/DE/NIDCR NIH HHSUnited States/ ; U01 DE018903/DE/NIDCR NIH HHSUnited States/ ; R21 DE016930/DE/NIDCR NIH HHSUnited States/ ; K99 DE024571/DE/NIDCR NIH HHSUnited States/ ; R01 DD000295/DD/NCBDD CDC HHSUnited States/ ; R01 DE014899/DE/NIDCR NIH HHSUnited States/ ; U54 MD007587/MD/NIMHD NIH HHSUnited States/ Less -
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:7047534f0b7522c06b1ff39176c7c1b70a7f37b4ea2dddcb0c765151a83b61b7
File Type:

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