Association of estrogen receptor α gene polymorphisms with BMD and their affect on estradiol levels in pre- and postmenopausal women in south Indian population from Andhra Pradesh

Osteoporosis is a multifactorial disorder with a strong genetic component and ESR1 is suggested as a candidate gene for osteoporosis. Therefore the present study is aimed to investigate the role of ESR1 gene polymorphisms and its influence on estradiol levels and BMD in osteoporotic women of Indian ethnicity. Four-hundred twenty-seven osteoporotic women and 460 age matched controls were included in the study. ESR1 gene polymorphism was assessed by PCR-RFLP method. Serum estradiol was measured by ELISA. The frequency of pp and xx genotypes as well as p and x alleles was significantly high in pre- and postmenopausal osteoporotics when compared to controls ( p < 0.001). They had low BMD and estradiol levels in comparison with PP and XX genotype individuals ( p < 0.05). The ESR1 gene is associated with low bone mass and low estradiol levels in all our study subjects. It is likely that the allele exerts its influence on the bone in early adulthood leading to an increased risk of osteoporosis later in life.