Association between single nucleotide polymorphisms of the estrogen receptor 1 and receptor activator of nuclear factor kappa B ligand genes andbone mineral density in postmenopausal Taiwanese

Objective: To investigate the relationship between single nucleotide polymorphisms (SNPs) of the genes encoding the estrogen receptor 1 (ESR1) and the receptor activator of nuclear factor kappa B ligand (RANKL) and bone mineral density (BMD) in postmenopausal Taiwanese. Materials and Methods: Five ESR1 SNPs and three RANKL SNPs in 467 women were genotyped. Results of genotyping were correlated with BMD that had been adjusted for body mass index (BMI), age, and years after menopause. Results: Those with the ESR1 C_rs1884054 allele were found to have a lower BMD at LS_2-4/Lateral view (p=0.005 and permutated p=0.046), and those with the ESR1 haplotype T_rs2234693-A_rs922996 had a higher risk for low BMD also at LS_2-4/Lat (OR=1.8, 95% CI=1.1-2.9). In addition, women without the RANKL haplotype G_rs2148072-C_rs2200287-G_rs922996 had a higher risk for low BMD at LS_1-4/AP (OR=2.09, 95% CI=1.21~3.64). Stratification analyses revealed that those with ESR1 AA_rs1884054 and RANKL A_rs2148072 (p=0.032) or RANKL T_rs2200287 (p=0.007) had a lower BMD at LS_1-4/AP. Conclusion: Genotypes of these SNPs of ESR1 and RANKL may help us predict the osteoporosis risk in menopausal women.