Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene.
Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene.
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DOI：
10.1186/1471-2350-6-10
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发表时间：
2005-03-09
影响因子：
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通讯作者：
Galandiuk S
中科院分区：
文献类型：
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作者：
Crawford NP;Eichenberger MR;Colliver DW;Lewis RK;Cobbs GA;Petras RE;Galandiuk S
大量证据表明，SLC 11 A1基因启动子多态性与自身免疫性疾病和感染性疾病的易感性有关。本研究的目的是评估是否SLC 11 A1有一个角色，在炎症性肠病（IBD）的易感性，通过表征基因内的启动子多态性和两个短串联重复序列（STR）标记的遗传接近SLC 11 A1。研究人群包括484名患有IBD的白人，144名对照人群和348名IBD患者的非IBD影响的一级亲属。IBD受试者在亚疾病表型水平重新分类，以表征可能的SLC 11 A1基因型-表型相关性。从生殖系DNA扩增多态性标记，并使用凝胶电泳分型。基因型-表型相关性通过病例对照、单倍型和基于家系的关联研究确定。这项研究没有提供SLC 11 A1疾病相关性的令人信服的证据;最重要的是，在所研究的克罗恩病人群中没有明显的SLC 11 A1启动子等位基因相关性的证据。因此，我们的研究结果反驳了以前的研究表明，SLC 11 A1启动子多态性参与这种形式的IBD的易感性。
Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1. The studied population consisted of 484 Caucasians with IBD, 144 population controls, and 348 non-IBD-affected first-degree relatives of IBD patients. IBD subjects were re-categorized at the sub-disease phenotypic level to characterize possible SLC11A1 genotype-phenotype correlations. Polymorphic markers were amplified from germline DNA and typed using gel electrophoresis. Genotype-phenotype correlations were defined using case-control, haplotype, and family-based association studies. This study did not provide compelling evidence for SLC11A1 disease association; most significantly, there was no apparent evidence of SLC11A1 promoter allele association in the studied Crohn's disease population. Our results therefore refute previous studies that have shown SLC11A1 promoter polymorphisms are involved in susceptibility to this form of IBD.