De Diego Carles, Alcántara Mariano, Valle Julio, Pérez-Grueso María José, Muñoz-Rosas Concepción, Carrobles José María, Martínez-Castro Pedro
Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain.
Genet Test. 2006 Fall;10(3):178-85. doi: 10.1089/gte.2006.10.178.
Crohn's disease (CD) presents a complex multifactorial etiology with genetic and environmental factors contributing to the disorder. Epidemiological studies have shown that three major CARD15 polymorphisms, R702W, G908R, and 1007fs, are associated with CD. We studied the frequencies of these three polymorphisms in patients from Toledo, Spain, and compared them with the frequencies found in studies of other populations. A total of 183 patients with CD and 172 healthy controls from Toledo, Spain, were included in this study. All of these individuals were genotyped for the three CARD15 polymorphisms R702W, G908R, and 1007fs. Frequencies were analyzed to identify any genotype-phenotype associations. The control population exhibited frequencies of CARD15 polymorphisms similar to the results of previous studies, 3.4%, 1.1%, and 2.0% for the R702W, G908R, and 1007fs polymorphisms, respectively, whereas CD patients had allele frequencies of 7.6%, 3.0%, and 4.6%, respectively. Significant associations were found between the presence of R702W and patients carrying two susceptibility variants with early age of onset and stricturing pattern.
克罗恩病（CD）呈现出复杂的多因素病因，遗传和环境因素均对该疾病有影响。流行病学研究表明，CARD15的三种主要多态性，即R702W、G908R和1007fs，与克罗恩病相关。我们研究了西班牙托莱多患者中这三种多态性的频率，并将其与其他人群研究中发现的频率进行比较。本研究纳入了来自西班牙托莱多的183例克罗恩病患者和172名健康对照者。所有这些个体均针对CARD15的三种多态性R702W、G908R和1007fs进行基因分型。分析频率以确定任何基因型与表型的关联。对照人群中CARD15多态性的频率与先前研究结果相似，R702W、G908R和1007fs多态性的频率分别为3.4%、1.1%和2.0%，而克罗恩病患者的等位基因频率分别为7.6%、3.0%和4.6%。在R702W的存在与携带两个易感变异且发病年龄早和狭窄型的患者之间发现了显著关联。
