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Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
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2 16 2022
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Source: Hum Hered.
[PDF-1.21 MB]
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Alternative Title:Hum Hered
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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.
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Pubmed ID:35172313
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Pubmed Central ID:PMC9378791
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