Despite some evidence of genetic and environmental factors on molar-incisor hypomineralization (MIH), its aetiology remains unclear. This family-based genetic association study aimed more comprehensively to investigate the genetic carriage potentially involved in MIH development. DNA was obtained from buccal cells of 391 individuals who were birth family members of 101 Brazilian nuclear families. Sixty-three single nucleotide polymorphisms (SNPs) were investigated in 21 candidate genes related to amelogenesis using the TaqMan™ OpenArray™ Genotyping platform. All SNPs were genotyped in 165 birth family members unaffected by MIH, 96 with unknown MIH status and 130 affected individuals (50.7% with severe MIH). Association analysis was performed by the transmission/disequilibrium test (TDT), and statistical results were corrected using the false discovery rate. Significant results were obtained for SNPs rs7821494 (FAM83H gene, OR = 3.7; 95% CI = 1.75-7.78), rs34367704 (AMBN gene, OR = 2.7; 95% CI = 1.16-6.58), rs3789334 (BMP2 gene, OR = 2.9; 95% CI = 1.34-6.35), rs6099486 (BMP7 gene, OR = 2.2; 95% CI = 1.14-4.38), rs762642 (BMP4 gene, OR = 2.3; 95% CI = 1.38-3.65), rs7664896 (ENAM gene, OR = 2.1; 95% CI = 1.19-3.51), rs1711399 (MMP20 gene, OR = 0.4; 95% CI = 0.20-0.72), rs1711423 (MMP20 gene, OR = 2.1; 95% CI = 1.18-3.61), rs2278163 (DLX3 gene, OR = 2.8; 95% CI = 1.26-6.41), rs6996321 (FGFR1 gene, OR = 2.7; 95% CI = 1.20-5.88), and rs5979395 (AMELX gene, OR = 11.7; 95% CI = 1.63-84.74). Through this family-based association study, we concluded that variations in genes related to amelogenesis were associated with the susceptibility to develop MIH. This result is in agreement with the multifactorial idea of the MIH aetiology, but further studies are necessary to investigate more thoroughly the factors that could influence MIH.

Objective. This cross-sectional study assessed the prevalence and severity of the enamel defects, known as Molar-Incisor Hypomineralization (MIH) and its relationship to dental caries. Materials and methods. A sample of 1157 schoolchildren (population based), aged 6–12 years, of the Araraquara city-Brazil, was evaluated according to the European Academy of Paediatric Dentistry (EAPD) criteria by two trained examiners. The dental impact caused by MIH was evaluated with the Decayed, Missing and Filled Teeth (DMFT) index (WHO). Data were analyzed using ANOVA and Chi-square tests (p < 0.05). The socioeconomic status was collected using a questionnaire answered by parents. Results. The prevalence of MIH was 12.3%. Mild impairment was the most frequent diagnosis. DMFT of children with MIH was 0.89 (±1.18), which are higher than those of the unaffected group (0.43 ± 1.01). An association was found between dental caries only in the permanent dentition of children with MIH (p = 0.0001). Family income was considered low in 85% of the families of children with MIH in the public system, while in private school it was 18% (p < 0.05). Conclusion. The prevalence of MIH in Araraquara was associated with greater caries experience in the permanent dentition.