Dabirnia Raheleh, Mahmazi Sanaz, Taromchi Amirhossein, Nikzad Masoum, Saburi Ehsan
Department of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran.
Assistant Professor, Department of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran.
Clin Cases Miner Bone Metab. 2016 Sep-Dec;13(3):190-194. doi: 10.11138/ccmbm/2016.13.3.190. Epub 2017 Feb 10.
Osteoporosis, a multifactorial disease with reduced bone mineral density which increases the probability of bone fractures, is caused by calcium deficiency, and its incidence increases with age. It has been determined that mutations in functional regions of vitamin D receptor gene will affect the metabolism of minerals especially calcium and, therefore, bone density. The present study evaluates the relation between vitamin D receptor polymorphisms, TaqI (rs731236) and ApaI (rs7975232), and osteoporosis in menopausal Azari women in Zanjan province.
This case-control study has been conducted on 50 menopausal women suffering from osteoporosis and 50 menopausal women who did not suffer from osteoporosis in Zanjan province. The diagnosis of osteoporosis was confirmed using DEXA instrument. Peripheral blood was collected from the subjects and controls to extract DNA and assess the ApaI and TaqI polymorphisms using PCR-RFLP method. The results were interpreted using independent T-test, chi-square, and Pearson correlation coefficient with a p-value less than 0.05.
There was not a significant difference between the frequency of ApaI (AA/Aa/aa) and TaqI (TT/Tt/tt) genotypes in cases (mean age 68.72) and controls (mean age 64.7) (p=0.37 and p=0.64, respectively). In addition, ApaI/TaqI allele haplotype in osteoporotic population showed non-significant relation (p value=0.563) compared with the control group.
The relationship between the genotypes and osteoporosis, cancers, and mineral metabolism disorders has been studied for a long time. Although there has been a significant relation between the aforementioned genotypes and osteoporosis or reduced mineral density-related bone fractures in some studied, some other studies have opposing results. Therefore, it is only possible to reach an acceptable conclusion by studying the haplotype of the polymorphisms in subjects.
骨质疏松症是一种多因素疾病，骨矿物质密度降低，增加了骨折的可能性，由缺钙引起，其发病率随年龄增长而增加。已经确定维生素D受体基因功能区域的突变会影响矿物质尤其是钙的代谢，从而影响骨密度。本研究评估了赞詹省阿扎里绝经后女性中维生素D受体多态性TaqI（rs731236）和ApaI（rs7975232）与骨质疏松症之间的关系。
本病例对照研究在赞詹省50名患有骨质疏松症的绝经后女性和50名未患骨质疏松症的绝经后女性中进行。使用双能X线吸收仪（DEXA）确诊骨质疏松症。从受试者和对照组采集外周血以提取DNA，并使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法评估ApaI和TaqI多态性。使用独立样本t检验、卡方检验和Pearson相关系数对结果进行分析，p值小于0.05具有统计学意义。
病例组（平均年龄68.72岁）和对照组（平均年龄64.7岁）中，ApaI（AA/Aa/aa）和TaqI（TT/Tt/tt）基因型的频率无显著差异（p值分别为0.37和0.64）。此外，与对照组相比，骨质疏松症人群中的ApaI/TaqI等位基因单倍型无显著相关性（p值=0.563）。
基因型与骨质疏松症、癌症和矿物质代谢紊乱之间的关系已经研究了很长时间。尽管在一些研究中上述基因型与骨质疏松症或与矿物质密度降低相关的骨折之间存在显著关系，但其他一些研究结果相反。因此，只有通过研究受试者多态性的单倍型才能得出可接受的结论。
