Kavoosian Saeid, Asgharian Alimohammad, Asouri Mohsen, Fattahi Sadegh, Amirbozorgi Galia, Kheirandish Ali, Abolfazli Sajad, Lotfi Maryam, Ebrahimi Nima, Ataee Ramin
College of Basic Sciences, Tonekabon Branch, Islamic Azad University, Tonekabon, Iran.
North Research Center, Pasteur Institute of Iran, Amol, Iran.
Iran J Public Health. 2023 Apr;52(4):840-847. doi: 10.18502/ijph.v52i4.12457.
Many studies have been done to identify the factors that influence the development and progression of osteoporosis. One genetic factor is polymorphisms of gene. Regarding the lack of comprehensive study on polymorphisms of gene in the north of Iran, mainly Mazandaran Province, we decided to investigate the polymorphism of this gene in postmenopausal women with osteoporosis.
This case-control study has been conducted at GhaemShahr Valiasr Hospital on 100 female patients with osteoporosis (average age of 58.1) and 90 healthy females without osteoporosis (average age of 55.2). After sampling and extraction of genomic DNA via of the salt deposition method, the genotype and SNP (rs9667108) polymorphism of gene were evaluated with the PCR-RFLP method. Restriction enzymes cut the PCR products. In order to identify patients, their bone mineral density was tested by the DEXA method. The results of digestion (digestion enzyme) were analyzed by MedCalc, SPSS software, Hardy-Weinberg equilibrium, and Chi2.
The statistical analysis has shown the significant relationship between SNP (rs9667108) polymorphism and the risk of osteoporosis disease in patients and control groups (<0.05). In SNP (rs9667108), the GC genotype, compared to GG, increased the risk of disease significantly (1.556 time). Similarly, CC genotype, compared to GG genotype, increased the risk of this disease by 2.091 time.
The existence of mutation in the gene could increase susceptibility to osteoporosis disease. Moreover, determining this patient's genotype in SNP (rs9667108) can be used to identify individuals who are in endanger osteoporosis.
已经开展了许多研究来确定影响骨质疏松症发生和发展的因素。一个遗传因素是某基因的多态性。鉴于伊朗北部,主要是马赞德兰省,缺乏对该基因多态性的全面研究,我们决定调查绝经后骨质疏松症女性中该基因的多态性。
这项病例对照研究在加姆沙赫尔瓦利阿斯尔医院对100名骨质疏松症女性患者(平均年龄58.1岁)和90名无骨质疏松症的健康女性(平均年龄55.2岁)进行。通过盐沉淀法进行采样和基因组DNA提取后,采用PCR-RFLP方法评估该基因的基因型和SNP(rs9667108)多态性。限制性内切酶切割PCR产物。为了识别患者,通过双能X线吸收法(DEXA)检测其骨密度。消化(消化酶)结果通过MedCalc、SPSS软件、哈迪-温伯格平衡和卡方检验进行分析。
统计分析表明,SNP(rs9667108)多态性与患者和对照组骨质疏松症疾病风险之间存在显著关系(<0.05)。在SNP(rs9667108)中,与GG基因型相比,GC基因型显著增加了疾病风险(1.556倍)。同样,与GG基因型相比,CC基因型使该疾病风险增加了2.091倍。
该基因中存在突变可能会增加患骨质疏松症疾病的易感性。此外,确定患者在SNP(rs9667108)中的基因型可用于识别有骨质疏松症风险的个体。