Correlation of rs749292 and rs700518 polymorphisms in the aromatase gene (CYP19A1) with osteoporosis in postmenopausal Polish women

Background. The aromatase gene (CYP19A1) is responsible for the aromatization of androgenic precursors to estrogens in peripheral tissues - including bone - after menopause. Objectives. The aim of this study was to evaluate the genotypes and allele frequencies of the rs749292 and rs700518 polymorphisms of the CYP19A1 gene in Polish postmenopausal women with osteopenia and osteoporosis. The potential correlations between genetic polymorphisms, bone mineral density (BMD), risk for bone fractures, and other clinical parameters were analyzed. Material and methods. The study included 675 unrelated women (109 women with osteopenia, 333 women with osteoporosis, and 233 healthy women). Genomic DNA was extracted from the blood samples and the CYP19A1 polymorphisms were determined using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. Bone mineral density at the lumbar spine (L1-L4) was measured with dual energy X-ray absorptiometry (DEXA). Results. The analysis of the CYP19A1 rs749292 polymorphism showed that there were no statistically significant differences in the distribution of genotypes between the study groups with osteoporosis and osteopenia and the control group. However, it was noted that the GG genotype occurred more often in the group with osteopenia (35.8%; OR = 1.44) than in the control group (27.9%). Also, a difference was noted in the distribution of genotypes in women with osteoporosis. In addition, it can be assumed that the G allele may lead to an increased susceptibility to osteopenia and osteoporosis. The analysis of the CYP19A1 rs700518 polymorphism showed that heterozygotes were more common in the group with osteoporosis (58.3%) than in the control group (52.8%). Conclusions. Our results suggest that the rs749292 polymorphism of the CYP19A1 gene may contribute to an elevated risk for fractures in postmenopausal Polish women.