Molecular assessment of calcium-sensing receptor gene polymorphism rs1801725 in Iraqi women with osteoporosis

Abstract

Calcium-sensing receptor (CaSR) gene polymorphism A986S (rs1801725) is a genetic factor of the calcium homeostasis and susceptibility of osteoporosis. Although, its role in premenopausal and postmenopausal women with osteoporosis is yet to be investigated. Therefore, this study was conducted to assess the CaSR gene polymorphism A986S and evaluate its correlation with biochemical parameters in premenopausal and postmenopausal Iraqi women with osteoporosis. Blood samples were obtained from 100 women (53 premenopausal and 47 postmenopausal) diagnosed with osteoporosis by specialist physicians and 70 healthy women of the same age as the control group. Serum calcium and phosphorus concentrations were estimated. Genomic DNA was extracted from the whole blood and used for polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis to detect CaSR A986S polymorphism. The results obtained showed that calcium and phosphorus levels were significantly lower (p value < 0.01) in the osteoporosis women compared with healthy groups. Frequencies of T allele and TT genotype were significantly higher (p value < 0.01) in the osteoporosis patients compared with controls, while there were no significant differences in the frequencies of the patient group. Conversely, there were no differences in the calcium and phosphorus levels and there was the presence of T allele of the CaSR A986S genotypes. Thus, our finding revealed that the CaSR polymorphism A986S was one of the genetic susceptibility factors for the premenopausal and postmenopausal in Iraqi women with osteoporosis and had little effects on mineral levels.