Abstract Background The exact cause of Molar Incisor Hypomineralisation remains uncertain. This review investigates the association between Molar Incisor Hypomineralisation and single-nucleotide polymorphisms. Main body A comprehensive electronic search was conducted across PubMed, Cochrane Library, Science Direct, Web of Science, and Scopus databases, covering all available records up to May 25, 2024, which was the date of the final search. EndNote software was used to remove duplicates. Studies meeting our eligibility criteria were evaluated using STREGA guidelines, followed by data extraction and quality assessment. A total of ten studies were included. Some studies focused on specific genes, while others employed broader approaches, such as genome-wide association studies and whole-exome sequencing. The genes most frequently studied were those involved in enamel formation and mineralization, such as ENAM , AMBN , and AMLEX , as well as the MMP20 gene. However, the findings were highly inconsistent. The MMP20 gene (specifically, single-nucleotide polymorphisms rs2245803, rs1711399, rs1711423, and rs1784418) has been associated with MIH. Additionally, certain single-nucleotide polymorphisms in the AMBN gene (4694075-T and rs13115627-AA) showed a protective effect, while rs534367704 was also associated with MIH. Conflicting results were found for single-nucleotide polymorphisms in the ENAM gene, particularly rs3796704. Furthermore, single-nucleotide polymorphisms rs78783628, rs739837-GT, and rs739837-GG in the VDR gene were identified in some studies. Conclusion The origin of Molar Incisor Hypomineralisation is likely multifactorial, with genetic variants in amelogenesis-related genes potentially contributing to its susceptibility. More clinical trials are needed to draw definitive conclusions.
Kallala et al. (Wed,) studied this question.