Bouzid Dorra, Amouri Ali, Fourati Hajer, Marques Isabel, Abida Olfa, Tahri Nabil, Goncalves Carlos Penha, Masmoudi Hatem
1 Immunology Department, Medicine School and Habib Bourguiba Hospital , Sfax, Tunisia .
Genet Test Mol Biomarkers. 2013 Nov;17(11):833-9. doi: 10.1089/gtmb.2013.0291. Epub 2013 Aug 24.
Associations with different autoimmune diseases of polymorphisms in genes encoding the IL2RA and IL2RB subunits (located in 10p15 and 22q13, respectively), were identified through genome-wide studies. Polymorphisms in these two genes were studied in 107 inflammatory bowel disease (IBD) patients (39 Crohn's disease [CD] and 68 ulcerative colitis [UC]) and in 162 ethnically healthy controls from Tunisia (Sfax). Two of the 15 IL2RA single-nucleotide polymorphisms (SNPs) genotyped (rs4749924 and rs706778) were significantly associated with UC (pcorr=0.018 and 0.048, respectively), but no evidence of association with CD was observed. The IL2RA GTCT haplotype was also more frequent in UC patients compared to controls (2.6% vs. 0%; p=0.002). One of the 6 IL2RB SNPs genotyped (rs743776) was significantly associated with CD (pcorr= 0.039), but no evidence of association with UC was observed. No significant association between IL2RB haplotypes was observed among investigated groups. Our study identified markers in the IL2RA and IL2RB genes that are significantly associated with UC and CD, respectively. Our results supporting IL2RA and IL2RB as promising candidate genes for IBD and suggesting a potential role of IL2R in the pathogenesis of IBD, likely involves regulatory T cells.
通过全基因组研究，确定了编码IL2RA和IL2RB亚基（分别位于10p15和22q13）的基因多态性与不同自身免疫性疾病之间的关联。在107例炎症性肠病（IBD）患者（39例克罗恩病[CD]和68例溃疡性结肠炎[UC]）以及162名来自突尼斯斯法克斯的健康对照者中，研究了这两个基因的多态性。在15个基因分型的IL2RA单核苷酸多态性（SNP）中，有两个（rs4749924和rs706778）与UC显著相关（校正p值分别为0.018和0.048），但未观察到与CD相关的证据。与对照组相比，UC患者中IL2RA GTCT单倍型也更常见（2.6%对0%；p = 0.002）。在6个基因分型的IL2RB SNP中，有一个（rs743776）与CD显著相关（校正p值 = 0.039），但未观察到与UC相关的证据。在研究组中未观察到IL2RB单倍型之间的显著关联。我们的研究确定了IL2RA和IL2RB基因中的标记物，它们分别与UC和CD显著相关。我们的结果支持IL2RA和IL2RB作为IBD有前景的候选基因，并提示IL2R在IBD发病机制中可能发挥作用，这可能涉及调节性T细胞。
