The Role of Parathyroid Hormone Receptor 1 Gene Polymorphism at rs1138518 SNP in the Incidence of Osteoporosis in a Sample of Iraqi Women

Abstract

Osteoporosis is a medical condition characterized by the weakening of bones, which makes them fragile and more prone to fractures. It is often associated with bone mineral density (BMD) reduction and changes in bone microstructure. Osteoporosis is influenced by a combination of genetic, diet and lifestyle factors, specific genetic variants can contribute to an individual's risk of developing the condition. The PTHR1 gene encodes the parathyroid hormone receptor1, which plays a role in calcium homeostasis and bone remodeling. Genetic variations within this gene, including rs1138518, have been studied in relation to bone health. The study aimed to detect the specific relationship between the rs1138518 variant on the PTHR1 gene and osteoporosis in a sample of Iraqi women their ages between (20-50) years old. A total number of 120 samples: two group of (60) women diagnosed with osteoporosis and (60) apparently healthy control. The DNA was extracted for both groups and the PTH1R SNP (rs1138518) gene were detected by qRT-PCR. The result showed there was high significant difference between patient and control in genotypes of mutant allele (AA) (51.67% vs. 13.33%, respectively; odds ratio =1.376; p-value =0.0001**, and that A allele frequency was significantly increased in patients compared to control (0.67 vs. 0.33) and the wild allele T showed decreased frequency in patients (0.22 vs. 0.78). The genotype of rs1138518SNP was showed significant difference between patient and control in PO4 (p-value= 0.05*). The TA genotype of rs1138518 SNP was effective in increasing the serum level of MMP-9 in osteoporosis patients (4006.13 ±131.30) compared TT or AA genotype (3495.12 ±174.01 and 3581.09 ±95.10, respectively; p=0.017*). This study was concluded there is an A allele – related risk factor for osteoporosis in Iraqi women, while the wild allele T might have a protective effect.