Genetic polymorphisms associated with developmental defects of enamel: A systematic review.

Background: Polymorphisms in genes related to enamel formation and mineralization may increase the risk of developmental defects of enamel (DDE). Aim: To evaluate the existing literature on genetic polymorphisms associated with DDE. Design: This systematic review was registered in the PROSPERO (CRD42018115270). The literature search was performed in PubMed, Scopus, Web of Science, LILACS, BBO, Cochrane Library, and in the gray literature. Observational studies assessing the association between DDE and genetic polymorphism were included. The Newcastle–Ottawa Scale was used to assess the risk of bias. Results: One thousand one hundred and forty‐six articles were identified, and 28 met the inclusion criteria. Five studies presented a low risk of bias. Ninety‐two genes related to enamel development, craniofacial patterning morphogenesis, immune response, and hormone transcription/reception were included. Molar–incisor hypomineralization (MIH) and/or hypomineralization of primary second molars (HPSM) were associated with 80 polymorphisms of genes responsible for enamel development, immune response, morphogenesis, and xenobiotic detoxication. A significant association was found between the different clinical manifestations of dental fluorosis (DF) with nine polymorphisms of genes responsible for enamel development, craniofacial development, hormonal transcription/reception, and oxidative stress. Hypoplasia was associated with polymorphisms located in intronic regions. Conclusion: MIH, HPSM, DF, and hypoplasia reported as having a complex etiology are significantly associated with genetic polymorphisms of several genes.