The rs1256044 polymorphism in the ESR2 gene and the risk for osteoporosis in Polish postmenopausal women.

Population association studies have demonstrated a strong association between ESR2 SNPs and BMD, indicating that ESR2 may influence attainment of bone mass. The aim of the study was to investigate the ESR2 gene, located on chromosome 14q linked with BMD, which demonstrates a correlation with changes in bone mass in healthy Caucasian women. The study included 675 unrelated Polish postmenopausal women, including 109 with osteopenia, 333 with osteoporosis and 233 healthy women. The women were classified into the following groups: osteopenia, osteoporosis and normal T-score. Analysis of genotype frequency for the ESR2 rs1256044 polymorphism revealed no statistically significant differences. No statistically significant differences were noted for the allele frequency. However, it is noticeable that the CT genotype occurred more often in women with osteopenia (50.4%, OR = 1.14) and osteoporosis (54.7%, OR = 1.33) than controls (47.7%). There were statistically significant differences between the clinical parameters and distribution of genotypes in patients with osteopenia but not osteoporosis. ESR2 polymorphisms demonstrate minimal influence on BMD changes in women. Identification of various genes with little impact on BMD, such as ESR2, might help design a screening panel for osteoporosis risk assessment in healthy subjects.