The aim of this study was to investigate the association between genetic polymorphisms in MMP8, MMP13, and MMP20 with caries experience and developmental defects of enamel (DDE) in children from the Amazon region of Brazil. Den tal caries and DDE data were collected through clinical examination from 216 children. Genomic DNA was extracted from saliva, and genotyping of selected polymorphisms in MMP8 (rs17099443 and rs3765620), MMP13 (rs478927 and rs2252070), and MMP20 (rs1784418) was performed using TaqMan chemistry and endpoint analysis. chi2 or Fisher's exact tests were used to compare allele and genotype distributions between children with caries experience and caries-free children and between DDE-affected and -unaffected children with an established alpha of 5%. The polymorphism rs478927 in MMP13 was associated with caries experience and DDE (p < 0.05). The analysis performed comparing children with both conditions (caries experience plus DDE) and children with neither of the conditions (caries-free chil dren without DDE) demonstrated that children carrying the MMP13 rs478927 TT genotype were more likely to have concomitant occurrence of these two conditions (OR = 5.8, 95% CI 2.1-15.8; p = 0.0003). In conclusion, the genetic polymorphism rs478927 in MMP13 was associated with caries experience and DDE.
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