Research article


Hala Mahmood Al-Kelabi1*; Huda Basim Qasim Al-Lami2; Amir Fadhil Al-Tu’ma3 Fadhil Jawad Al-Tu’ma1 and Noor Mahmood Mahdi4

Online First: November 15, 2022

Background: Approximately 200 million women worldwide are affected with osteoporosis, which is a significant source of morbidity and mortality and has complications that are related to it. The most widely used diagnostic method is now dual-energy X-ray absorptiometry (DEXA) BMD scanning because of the disease's high correlation with bone mineral density (BMD). Women after menopause are at a heightened risk for illness. The correlation between vitamin D receptor gene polymorphism with different human diseases had been searched. It was reported that VDR gene polymorphism correlated to hyperparathyroidism, infectious diseases, inflammatory bowel disease (IBD), and prostatic tumor. Objective: The presented work aimed to studying the genetic variation of the VDR gene (rs731236) in Iraqi postmenopausal women with osteoporosis and then investigates its function in the pathophysiology of the disease. Materials and Methods: A case-control study was performed on 60 postmenopausal women with osteoporosis. Their age was ranged between 55-75 years; the second group includes 50 apparently healthy postmenopausal women. Patients with osteoporosis were randomly selected from the fragility examination unit of Al-Hussein Medical Hospital, Kerbala health directorates / Kerbala - Iraq between Nov., 2021 to June, 2022. Five milliliters of venous whole blood were deposited in gel tubes and centrifuged at 3000 x g for ten minutes from each sample in order to calculate the body mass index (BMI). The genotypes and allele frequencies of VDR variants were determined by polymerase chain reaction-allele specific using DNA isolated from peripheral blood. Dual-energy X-ray absorptiometry BMD measurement was used to confirm the presence of osteoporosis. The Hardy-Weinberg equilibrium assumption was used to interpret the results, and P 0.05 was taken into account as significant. Result: The amplification of the VDR gene (rs 731236) SNP which were classified into three genotypes the major genotype group (TT) homozygous for the allele T, the minor genotype group (CC) homozygous for the allele C Heterozygous (TC). Genotype frequencies of the (rs 731236) polymorphism were consistent with Hardy–Weinberg equilibrium (HWE). Allele frequencies were 62%, 18% and 20% for TT, TC and CC, respectively, in control group. The Heterozygous (TC) and homozygous genotype (CC) significantly increased the risk. Conclusion: Polymorphisms in VDR in the community of Iraqi postmenopausal women, TaqI was revealed to be a significant determining risk factor for osteoporosis advancement.


Genotyping, Osteoporosis, Postmenopausal, 25(OH)D3, Receptor Polymorphisms, TaqI , Variant.