Oestrogen receptor alpha, growth hormone receptor, and developmental defect of enamel.

BACKGROUND: Oestrogen (ES) and growth hormone (GH) are hormones that may have a role in caries aetiology and developmental defects of enamel (DDE) since their receptors (ERs and GHR) are expressed during amelogenesis.

AIM: To evaluate whether genetic polymorphisms in the genes that codify the ERα (ESR1) and GHR are associated with caries experience and DDE in children.

DESIGN: Two hundred and sixteen children of both genders, aged 9-12 years, were examined and classified according to caries and DDE phenotype. Genomic DNA was extracted from buccal cells in saliva. Genetic polymorphisms in ERS1 (rs1884051 and rs12154178) and GHR (rs297305, rs2940913, rs2910875, and rs1509460) were genotyped using TaqMan chemistry. Data were analysed by PLINK, while the chi-square test was used to compare allele and genotype distributions (alpha of 5%).

RESULTS: A total of 131 children (60.7%) had caries experience, and 43 (19.9%) presented DDE. Genotype and allele distributions were not associated with caries experience (P > 0.05). Genotype and allele distributions between DDE, affected and unaffected, were associated with the polymorphism rs12154178 in ESR1 (P = 0.01 and P = 0.001, respectively) and with the polymorphism rs1509460 in GHR (P = 0.05 and P = 0.02, respectively).

CONCLUSIONS: Genetic polymorphisms in ERS1 (rs12154178) and GHR (rs1509460) are associated with DDE.