Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.7/248
Título: Association of the RAVER2 gene with increased susceptibility for ulcerative colitis
Autor: Bouzid, D.
Fourati, H.
Amouri, A.
Marques, I.
Abida, O.
Haddouk, S.
Ben Ayed, M.
Tahri, N.
Penha-Gonçalves, C
Masmoudi, H.
Data: 2012
Citação: Bouzid, D.; Fourati, H.; Amouri, A.; Marques, I.; Abida, O.; Haddouk, S.; Ben Ayed, M.; Tahri, N.; Penha-Gonçalves, C; Masmoudi, H.Association of the RAVER2 gene with increased susceptibility for ulcerative colitis, Human Immunology, 73, 7, 732-735, 2012.
Resumo: 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.
URI: http://hdl.handle.net/10400.7/248
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