1. Department of Medical Genetics and Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Cell J. 2013 Spring;15(1):75-82. Epub 2013 May 5.
Osteoporosis is a bone disorder that reduces bone mineral density (BMD) and leads to bone fracture. In addition to different factors, gene polymorphisms have been revealed to be associated with osteoporosis. In this study, we investigated the association between the BsmI polymorphism of vitamin D receptor (VDR) gene (rs1544410) and BMD in a population of Iranian women.
In this case control study, clinical risk factors for osteoporosis were obtained from the participants through a questionnaire for a case-control study. The World Health Organisation (WHO) criteria were applied for the diagnosis of the disease. Peripheral blood samples were obtained from 146 pre- and or postmenopausal Iranian women aged between 35 and 71 years (53.53 ± 9.8). The study population was classified for BMD into normal and osteoporotic groups, who matched for age, pregnancy status, menstrual condition, and body mass index (BMI). The BMD of the lumbar spine (L1-4) and femoral neck was measured. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) was performed to detect and analyze the genotype.
The frequencies of AA and GG were significantly different between the two groups (p value<0.05), with the first genotype being higher in the patients and the second being higher in the normal group. The GG genotype was significantly associated with increased BMD in the lumbar spine (p value<0.05) but non-significant in the femoral neck (p value>0.05).
BsmI polymorphism of VDR gene has a significant association with BMD in the lumbar spine and may have a minor effect on the proximal femur BMD in Iranian women.
骨质疏松症是一种骨骼疾病,会降低骨密度(BMD)并导致骨折。除了不同的因素外,基因多态性也被发现与骨质疏松症有关。在这项研究中,我们调查了维生素 D 受体(VDR)基因(rs1544410)BsmI 多态性与伊朗女性人群 BMD 之间的关联。
在这项病例对照研究中,通过病例对照研究问卷从参与者中获得骨质疏松症的临床危险因素。采用世界卫生组织(WHO)标准诊断该疾病。从 146 名年龄在 35 至 71 岁之间(53.53±9.8)的绝经前或绝经后伊朗女性中获得外周血样本。根据年龄、妊娠状态、月经状况和体重指数(BMI)将研究人群分为正常和骨质疏松组进行 BMD 匹配。测量腰椎(L1-4)和股骨颈的 BMD。聚合酶链反应-限制性片段长度多态性(PCR-RFLP)用于检测和分析基因型。
两组之间 AA 和 GG 的频率存在显著差异(p 值<0.05),第一种基因型在患者中较高,第二种基因型在正常组中较高。GG 基因型与腰椎 BMD 增加显著相关(p 值<0.05),但与股骨颈 BMD 无显著相关性(p 值>0.05)。
VDR 基因 BsmI 多态性与伊朗女性腰椎 BMD 显著相关,可能对近端股骨 BMD 有轻微影响。