Association of estrogen receptor α gene polymorphisms with bone mineral density in postmenopausal Indian women

Bone mineral density (BMD) is the major determinant of osteoporotic fracture risk with a particular genetic background. However, consensus on the association of BMD with specific gene locus has not been reached. In the present study, we investigated the potential association of estrogen receptor α (ER α) gene intron I polymorphisms with BMD in 246 postmenopausal Indian women (average age 54.2 ± 3.4 years). All the subjects were genotyped for XbaI and PvuII polymorphisms and underwent BMD measurements at spine and hip by dual energy X-ray absorptiometery. The average BMD of subjects with the genotypes XX and PP (absence of restriction sites for XbaI and PvuII, respectively) was 12.7 and 5.4% higher at the spine and 13.1 and 4.6% higher at the hip, respectively, than those with genotypes xx and pp. In age vs. BMD scatterplot, the intercept and slope of regression lines for genotypes xx and pp at spine and hip demonstrated comparatively rapid decrease in BMD across the age. The genotype XX was significantly prevalent (p < 0.001) in women with normal bone mass (32%) and genotype xx in women with osteoporotic bone mass (35.3%), within the group. A significantly higher relative risk was associated with xx genotype. The study concludes that genetic variations at ER α gene locus, perhaps, are associated with BMD in Indian women and may influence some determinant of bone metabolism resulting in accelerated bone loss with age.