The relationship between vitamin D receptor (VDR) polymorphism and the occurrence of osteoporosis in menopausal Iranian women.

Q3 Medicine Clinical Cases in Mineral and Bone Metabolism Pub Date : 2016-09-01 Epub Date: 2017-02-10 DOI:10.11138/ccmbm/2016.13.3.190
Raheleh Dabirnia, Sanaz Mahmazi, Amirhossein Taromchi, Masoum Nikzad, Ehsan Saburi
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引用次数: 15

Abstract

Background: 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.

Materials and methods: 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.

Results: 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.

Discussion and conclusion: 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.

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绝经期伊朗妇女维生素D受体(VDR)多态性与骨质疏松症发生的关系
背景:骨质疏松症是一种多因素疾病,骨密度降低,增加骨折的可能性,是由缺钙引起的,其发病率随着年龄的增长而增加。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的代谢,特别是钙,从而影响骨密度。本研究评估了赞詹省阿扎里族绝经妇女维生素D受体多态性、TaqI (rs731236)和ApaI (rs7975232)与骨质疏松症的关系。材料与方法:本病例对照研究选取赞詹省50例绝经期骨质疏松妇女和50例未患骨质疏松的绝经期妇女。DEXA仪器诊断骨质疏松。采集受试者和对照组外周血,提取DNA,采用PCR-RFLP法评估ApaI和TaqI多态性。结果采用独立t检验、卡方检验和Pearson相关系数进行解释,p值小于0.05。结果:患者(平均年龄68.72岁)与对照组(平均年龄64.7岁)ApaI (AA/ AA/ AA)和TaqI (TT/ TT/ TT)基因型频率差异无统计学意义(p=0.37、p=0.64)。骨质疏松人群ApaI/TaqI等位基因单倍型与对照组无显著相关(p值=0.563)。讨论与结论:基因型与骨质疏松、癌症、矿物质代谢紊乱的关系已被长期研究。尽管在一些研究中,上述基因型与骨质疏松症或矿物质密度降低相关骨折之间存在显著关系,但其他一些研究得出了相反的结果。因此,只有通过研究被试多态性的单倍型,才能得出一个可接受的结论。
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Clinical Cases in Mineral and Bone Metabolism
Clinical Cases in Mineral and Bone Metabolism ENDOCRINOLOGY & METABOLISM-
CiteScore
2.60
自引率
0.00%
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0
期刊介绍: The Journal encourages the submission of case reports and clinical vignettes that provide new and exciting insights into the pathophysiology and characteristics of disorders related to skeletal function and mineral metabolism and/or highlight pratical diagnostic and /or therapeutic considerations.
期刊最新文献
From the Editor-in-Chief. Hypothyrodism as a risk factor of periodontitis and its relation with vitamin D deficiency: mini-review of literature and a case report. Atypical femur fractures: a distinctive tract of adult hypophosphatasia. Surgical treatment of neglected hip fracture in children with cerebral palsy: case report and review of the literature. Pitfalls in interpreting interventional studies for osteoporosis.
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