Association of vitamin D receptor genotypes with early onset rheumatoid arthritis
Association of vitamin D receptor genotypes with early onset rheumatoid arthritis
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DOI：
10.1046/j.1365-2370.2001.00233.x
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发表时间：
2001-02-01
期刊：
影响因子：
--
通讯作者：
Núñez-Roldán, A
中科院分区：
文献类型：
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作者：
Garcia-Lozano, JR;Gonzalez-Escribano, MF;Núñez-Roldán, A
某些维生素D受体（VDR）基因型的存在与老年人群的低骨矿物质密度（BMD）以及类风湿性关节炎（RA）患者的加速骨丢失有关。在本研究中，VDR基因型从120例西班牙类风湿关节炎患者进行了调查。采用聚合酶链反应和酶切技术检测VDR基因BsmI、ApaI和TaqI多态性。VDR等位基因频率在患者和对照组中的分布相似，因此VDR多态性对类风湿性关节炎易感性没有影响。然而，在不同VDR相关基因亚群的临床特征分析中，由BsmI和TaqI限制性位点多态性定义的BB/tt基因型被确定为与女性患者的早发性RA弱相关。在各种研究中，该VDR基因型与低BMD水平相关。当患者根据共享HLA表位SE的存在进行分层时，发现携带BB/tt基因型的SE +女性患者显示最早的疾病发作。VDR多态性与RA相关的机制尚不清楚，但它们可能与维生素D的免疫调节特性有关。
The presence of certain vitamin D receptor (VDR) genotypes has been associated with low bone mineral density (BMD) in elderly populations as well as with accelerated bone loss in patients with rheumatoid arthritis (RA). In the present study, VDR genotypes from 120 Spanish patients with RA were investigated. Three VDR gene polymorphisms (BsmI, ApaI and TaqI) were investigated using polymerase chain reaction followed by enzymatic digestion. The distributions of VDR allelic frequencies were similar in patients and controls and therefore no influence of VDR polymorphisms on rheumatoid arthritis susceptibility could be demonstrated. However, in an analysis of the clinical features of the different VDR-related genetic subgroups, the BB/tt genotype, defined by the BsmI and TaqI restriction site polymorphisms, was identified to be weakly associated with an early onset RA in female patients. This VDR genotype has been associated with a low BMD level in various studies. When patients were stratified according eo the presence of the shared HLA epitope SE, it was found that SE + female patients bearing the BB/tt genotype showed the earliest disease onset. The mechanisms by which the VDR polymorphism is associated with RA is unknown, but they could be related to the immunoregulatory properties of vitamin D.