estrogen Receptor Beta Gene Polymorphisms is Correlated With Bone Mineral Density, But Not Osteoporotic Fracture in Postmenopausal Women

Objective: To investigate the association between single nucleotide polymorphisms (SNPs) in the estrogen receptor beta (ESR2) gene and bone mineral density (BMD) and osteoporotic fracture in postmenopausal women. Methods: Spine and hip BMD as well as fracture history were investigated in 140 postmenopausal Chinese women. Genotyping was performed for 3 SNPs of ESR2 gene, Van91| and Rsa| in exon 5, and AluI in exon 8. For each SNP, subjects were divided into 2 groups: the “carrier group” including individuals with at least 1 allele bearing the restriction site and the “wild-type group” including the rest of the subjects. Results: Only VV genotype was observed for the Van91| locus. The distribution of RsaI genotypes was 81.43% for RR, 17.14% for Rr, 1.43% for rr, and of AluI genotypes was 87.86% for AA and 12.14% for Aa, and aa was absent. Spine BMD differed significantly in the 2 groups of RsaI SNP after adjusting for confounding variables (P = 0.0042), while hip BMD differed significantly in the 2 groups of AluI SNP after adjustment (P 0.05). Conclusions: The RsaI and AluI SNPs of ESR2 gene may influence BMD variation, but does not appear to correlate with the risk of osteoporotic fracture in postmenopausal women.