Estrogen receptor α and β gene polymorphism in relation to bone mineral density and lipid profile in Northeast Indian women.

Estrogen regulates bone homeostasis and has a cardio-protective effect. Its physiological functions are mediated through receptors (ER) whose expression can be regulated by presence or absence of polymorphisms. However, the association between ER polymorphisms and BMD as well as lipids are inconsistent. The aim of the study was to investigate whether polymorphisms in ESR are associated with bone mineral density (BMD) and lipids in a cohort of Indian women. We studied Pvu II, Xba I polymorphisms in ESR 1 and Alu I, Rsa I polymorphisms in ESR 2 genes and their association with bone mineral density (BMD) and lipids in premenopausal (n = 293, mean age: 33.01 ± 5.23 years) and postmenopausal (n = 145, mean age: 56.91 ± 7.1 years) women from Northeast India. Alu I and Rsa I polymorphisms in ESR2 gene were associated with BMD in postmenopausal women. Logistic regression analysis adjusted for age, BMI, tobacco and alcohol consumption revealed that xx genotype in Xba I polymorphism is associated with osteopenia at spine (OR = 3.3, 95% CI = 1.067–10.204) in postmenopausal women suggesting that allele X is protective (OR = 0.419, 95% CI = 0.177–0.991). Genotype aa in Alu I polymorphism, seemed to be protective (OR = 0.092 for osteopenia; OR = 0.152 for osteoporosis) at spine whereas A allele was associated with osteopenia at femur (OR = 2.123, 95% CI = 1.079–4.166) in postmenopausal women. Allele r of Rsa I polymorphism, was associated with osteoporosis at spine (OR = 3.222, 95% CI = 1.302–7.96). Thus, AIu I polymorphism of ESR 2 gene was associated with spinal and femoral BMD whereas Rsa I only with spinal BMD in postmenopausal women and ESR genotypes were not associated with lipids. • First Indian study reporting association of ESR2 polymorphism with bone density • AIu I polymorphism (ESR 2 gene) was associated with spinal and femoral BMD whereas Rsa I with spinal BMD in postmenopausal women • ESR polymorphisms were not associated with lipids [ABSTRACT FROM AUTHOR]