Association between single nucleotide polymorphisms of the estrogen receptor 1 and receptor activator of nuclear factor kappa B ligand genes and bone 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 LS2-4/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 LS2-4/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 LS1-4/AP (OR = 2.09, 95% CI = 1.21 similar to 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 LS1-4/AP. Conclusion: Genotypes of these SNPs of ESR1 and RANKL may help us predict the osteoporosis risk in menopausal women. Copyright (C) 2013, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.