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散发性克罗恩病患者中常见CARD15变异体的分布:来自土耳其的病例

Distribution of common CARD15 variants in patients with sporadic Crohn's disease: cases from Turkey.

作者信息

Uyar F Aytül, Over-Hamzaoğlu Hülya, Türe Filiz, Gül Ahmet, Tözün Nurdan, Saruhan-Direskeneli Güher

机构信息

Department of Physiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

出版信息

Dig Dis Sci. 2006 Apr;51(4):706-10. doi: 10.1007/s10620-006-3195-y.

Abstract

Three common genetic variations, namely, R702W, G908R, and 1007fs, on CARD15 have been shown to increase the risk for Crohn's disease (CD) in Caucasian populations. In this study the frequencies of these CARD15 variants were determined by genotyping in 56 patients with CD and 100 healthy ethnically matched controls from Turkey. Overall frequency of all three variants was 10.7% in CD patients, compared with 1.5% in controls (odds ratio [OR]: 7.9). Among them, the frequency of the G908R variant allele was 8% in CD cases, compared with 0% in controls (OR: 36.8). The allele frequencies of three CD-related CARD15 variants were considerably lower in the control group compared to the reported Caucasian populations. Among the described CARD15 variants, G908R confers an increased susceptibility to CD, whereas the more frequently reported associations in Europeans with R702W and 1007fs are not confirmed in this Turkish population.

摘要

CARD15基因上的三种常见基因变异,即R702W、G908R和1007fs,已被证明会增加白种人群患克罗恩病(CD)的风险。在本研究中,通过基因分型确定了来自土耳其的56例CD患者和100名种族匹配的健康对照者中这些CARD15变异的频率。所有三种变异的总体频率在CD患者中为10.7%,而在对照者中为1.5%(优势比[OR]:7.9)。其中,G908R变异等位基因在CD病例中的频率为8%,而在对照者中为0%(OR:36.8)。与报道的白种人群相比,对照组中三种与CD相关的CARD15变异的等位基因频率要低得多。在所描述的CARD15变异中,G908R会增加患CD的易感性,而在欧洲人中更常报道的与R702W和1007fs的关联在该土耳其人群中未得到证实。

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