Genetic Investigation of Osteoporosis in Postmenopausal Women with a Focus on Vitamin D Receptor Gene TaqI (rs731236) Polymorphism and Its Possible Link to Type 2 Diabetes
Mena Y. Abd *
Department of Biochemistry, Faculty of Medicine, University of Kerbala, 56001, Karbala, Iraq.
*Author to whom correspondence should be addressed.
Abstract
Osteoporosis is a common condition that causes fragility fractures by causing a systemic decrease in bone mass and microarchitecture. The medical and societal consequences of osteoporosis, especially postmenopausal osteoporosis, will increase as the population ages. This study aims to investigate how the body interacts with medications that genetically influence osteoporosis, which helps in diagnosing, treating, and preventing fractures and reducing their negative effects. The study was conducted on 100 women with osteoporosis, 80 women with postmenopausal osteoporosis, and 20 healthy women who were randomly selected to study the relationship between osteoporosis and the Taq1 (rs731236) single-nucleotide polymorphism (SNP) in the VDR gene using PCR. Among 60 patients, 15 (25%) TT, 24 (40%) GG, and 21 (35%) TC heterozygotes were found. TT, CC and TC (31, 25.4; 10, 4.3; 9, 20.4) respectively, are the proportion and distribution of people with (rs 731236) that deviate from those predicted under Hardy–Weinberg equilibrium. (p < 0.001}), 15.843, and rs 731236), making it statistically significant. The (rs 731236) SNP did not differ significantly from the other means of the biomarkers (D3, ALP, PTH, Progesterone, and E2). Mean age, BMI, and T-score, using one-way analysis of variance, the study groups were compared. The mean T-score of the controls did not differ significantly. The mean BMI differed significantly (p = 0.02). Patients' bone mineral density )BMD( (p = 0.026) and mean T. score (-3.27 ± 0.53) for the TT allele are substantially greater than those for the CC allele (-2.66 ± 0.80), According to post hoc analysis using (LSD) amendment, the results showed that the mean BMD of CC alleles (0.75 ± 0.04) was significantly lower than the mean BMD of the TT allele (0.80 ± 0.06). The T-score and BMD showed a significant difference; however, the demographic characteristics of PMO patients with DM type 2 and PMO patients without DM type 2 did not differ significantly in the (rs 731236) SNP. Early PMO diagnosis can help treat the condition and limit its progression. The aetiology of the disease is significantly influenced by genetic variants (VDR rs731236) polymorphisms in the nuclear receptor gene.
Keywords: Genes, molecular, osteoporosis, postmenopausal women, type 2 diabetes