Naderi Nosratollah, Farnood Alma, Habibi Manijeh, Derakhshan Faramarz, Balaii Hedieh, Motahari Zahra, Agah Mohammad R, Firouzi Farzad, Rad Mahta G, Aghazadeh Rahim, Zojaji Homayoun, Zali Mohammad R
Research Center for Gastroenterology and Liver Diseases, Shahid Beheshti University, MC, Tehran, Iran.
J Gastroenterol Hepatol. 2008 Dec;23(12):1816-22. doi: 10.1111/j.1440-1746.2008.05525.x. Epub 2008 Aug 24.
The vitamin D receptor (VDR) gene maps to a region on chromosome 12 shown to be linked to inflammatory bowel disease (IBD). Many studies have recognized the relation of VDR gene polymorphisms with inflammatory and autoimmune disorders. Determining the frequency of these polymorphisms and their possible relation with IBD can improve understandings about the genetic background of these diseases. The objective of this study was to assess the association of VDR gene polymorphisms (Apa I, Taq I, Bsm I, Fok I) with IBD in Iran.
In this case control designed study 150 patients with ulcerative colitis, 80 patients with Crohn's disease and 150 Age and Sex matched healthy controls from Iranian origin were enrolled. These patients were referred to a tertiary center during a two-year period (2004-2006). Assessment of VDR gene polymorphisms was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The genotype-phenotype association for these polymorphisms was analyzed.
Only the frequency of the Fok I polymorphism was significantly higher in ulcerative colitis and Crohn's groups. The frequency of the polymorphic allele f was higher in ulcerative colitis and Crohn's patients comparing with controls (P = 0.011 and P < 0.001, respectively). The f/f genotype was also significantly more frequent (P < 0.001), while the F/F genotype was less presented in Crohn's patients compared to controls (P < 0.001). No genotype-phenotype association was observed with any mutations.
This study suggests a probable association of the Fok I polymorphism in VDR receptor gene and Crohn's susceptibility in Iranian population.
维生素D受体（VDR）基因定位于12号染色体上的一个区域，该区域已被证明与炎症性肠病（IBD）相关。许多研究已经认识到VDR基因多态性与炎症和自身免疫性疾病之间的关系。确定这些多态性的频率及其与IBD的可能关系有助于增进对这些疾病遗传背景的了解。本研究的目的是评估VDR基因多态性（Apa I、Taq I、Bsm I、Fok I）与伊朗人群IBD的关联。
在这项病例对照研究中，纳入了150例溃疡性结肠炎患者、80例克罗恩病患者以及150名年龄和性别匹配的伊朗裔健康对照者。这些患者在两年期间（2004 - 2006年）被转诊至一家三级中心。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法对VDR基因多态性进行评估。分析这些多态性的基因型 - 表型关联。
仅Fok I多态性的频率在溃疡性结肠炎组和克罗恩病组中显著更高。与对照组相比，溃疡性结肠炎和克罗恩病患者中多态性等位基因f的频率更高（分别为P = 0.011和P < 0.001）。f/f基因型也显著更常见（P < 0.001），而与对照组相比，F/F基因型在克罗恩病患者中出现的频率更低（P < 0.001）。未观察到任何突变与基因型 - 表型的关联。
本研究表明VDR受体基因中的Fok I多态性与伊朗人群克罗恩病易感性之间可能存在关联。
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