Zouiten-Mekki Lilia, Zaouali Habib, Boubaker Jalel, Karoui Sami, Fekih Monia, Matri Samira, Hamzaoui Sami, Filali Azza, Chaabouni Habiba, Hugot Jean Pierre
Service de Gastro-entérologie A, Hôpital La Rabta, Tunis, Tunisie.
Dig Dis Sci. 2005 Jan;50(1):130-5. doi: 10.1007/s10620-005-1290-0.
Crohn's disease (CD) is a heterogeneous disorder. A genetic linkage to chromosome 16 (IBD1) has been previously observed and replicated in unrelated populations. Recently, in this region, NOD2/CARD15 has been identified as a susceptibility gene. The aim of this report is to determine whether this gene is implicated in CD in a Tunisian population. One hundred thirty patients with CD and 90 healthy individuals were genotyped for the three common NOD2 variants (C2104T in exon 4, G2722C in exon 8, and 3020insC in exon 11). Furthermore, the 11 exons of the NOD2 gene were sequenced in 20 patients with CD. Results showed that the frequency of the CARD15 variants in the Tunisian population is significantly lower than that observed in the European and American population. Direct sequencing of CARD15 did not permit us to identify a characteristic mutation in our population. No association was confirmed between CD and the NOD2 gene in our Tunisian population. Furthermore, the NOD2/CARD15 gene has a variable association with CD in different populations. These results indicate the genetic variation of CD in different ethnic groups.
克罗恩病(CD)是一种异质性疾病。先前已在无关人群中观察到并重复证实了与16号染色体的遗传连锁(IBD1)。最近,在该区域,NOD2/CARD15已被鉴定为一个易感基因。本报告的目的是确定该基因在突尼斯人群的克罗恩病中是否起作用。对130例克罗恩病患者和90名健康个体进行了三种常见NOD2变异(外显子4中的C2104T、外显子8中的G2722C和外显子11中的3020insC)的基因分型。此外,对20例克罗恩病患者的NOD2基因的11个外显子进行了测序。结果显示,突尼斯人群中CARD15变异的频率显著低于欧美人群中观察到的频率。对CARD15的直接测序未能使我们在我们的人群中鉴定出一个特征性突变。在我们的突尼斯人群中,未证实克罗恩病与NOD2基因之间存在关联。此外,NOD2/CARD15基因在不同人群中与克罗恩病存在可变关联。这些结果表明了不同种族群体中克罗恩病的遗传变异。