Association of the RAVER2 gene with increased susceptibility for ulcerative colitis

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• 作者：D. Bouzid^a ; ^{dorra-ing@voila.fr} ; H. Fourati^a ; A. Amouri^b ; I. Marques^c ; O. Abida^a ; S. Haddouk^a ; M. Ben Ayed^a ; N. Tahri^b ; C. Penha-Gon&ccedil ; alves^c ; H. Masmoudi^a
• 刊名：Human Immunology
• 出版年：2012
• 出版时间：July, 2012
• 年：2012
• 卷：73
• 期：7
• 页码：732-735
• 全文大小：286 K

文摘

Crohn¡¯s disease (CD), ulcerative colitis (UC), systemic lupus erythematosus (SLE) and autoimmune polyglandular syndromes (APS) are autoimmune diseases (ADs) that may share common susceptibility pathways. We examined ribonucleo-protein, polypyrimidine tract-binding protein (PTB)-binding 2 (RAVER2) loci for these diseases in a cohort of 39 CD cases, 67 UC cases, 93 SLE cases, 60 APS cases and 162 healthy control subjects of Tunisian origin. We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. For each association, odds ratio (OR) and 95 % CI were calculated. We show that rs2780814 is significantly associated with UC (P = 0.00016, P_corr = 0.00048, OR = 3.66 (1.82; 7.34)). We also observed a trend of possible association to SLE (P = 0.023, P_corr = 0.69, OR = 2.19 (1.1; 4.36)). None of these RAVER2 SNPs were associated with CD and APS susceptibility. These findings establish RAVER2 as a new UC genetic susceptibility factor and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between ADs suggesting different immunopathological roles of RAVER2 in these diseases.