Relationship Between Polymorphism in Exon 8 of Estrogen Receptor Alpha Gene and Osteoporosis in Saudi Women

Abstract

Objectives: Alternations in the estrogen receptor alpha gene (ERα) play an essential role in osteoporosis etiology. In this study, the relationship between a single nucleotide polymorphism (SNP) in ERα (G2014A) and osteoporosis in Saudi women were investigated. Methods: In this research 40 females with osteoporosis and 41 healthy controls ranging in age from 35 to 75 years were examined. Demographic data were recorded, and blood samples were drawn in plain and in EDTA tubes for estimation of estrogens in the serum and extraction of DNA, respectively. The DNA was used to amplify the fragment of interest carrying the SNP in ERα by polymerase chain reaction (PCR). The PCR product was subjected to DNA sequencing. Results: G2014A was polymorphic in Saudi women. Genotypes and allele frequencies were compared in the osteoporotic and non-osteoporotic groups. Although the genotypes of osteoporotic and non-osteoporotic subjects were significantly different (p=0.0157), the allelic frequency was not significantly different (p=0.519). Estrogen levels significantly differed between osteoporotic and nonosteoporotic subjects (mean ± SD E2: 46.6 ± 30.7 vs. 68.7 ± 47.1 pg/mL, p=0.0143). Importantly, a significant difference in waist-hip ratio in osteoporotic patient and the nonosteoporotic group was detected (0.8 ± 0.1 vs. 0.9 ± 0.0, p=0.0174). Conclusion: Although there was no relationship between G2014A and osteoporosis in Saudi women, this study sheds light on another aspect, such as the significant difference in estrogen levels in these two groups. Furthermore, an advantageous effect of fat on bone mass was observed in the non-osteoporotic group.