title: Association of the RAVER2 gene with increased susceptibility for ulcerative colitis.
abstract: 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.
authors.affiliation: Immunology Department, Medicine School and Habib Bourguiba Hospital, Sfax, Tunisia. dorra-ing@voila.fr
authors.forename: D
authors.initials: D
authors.lastname: Bouzid
authors.forename: H
authors.initials: H
authors.lastname: Fourati
authors.forename: A
authors.initials: A
authors.lastname: Amouri
authors.forename: I
authors.initials: I
authors.lastname: Marques
authors.forename: O
authors.initials: O
authors.lastname: Abida
authors.forename: S
authors.initials: S
authors.lastname: Haddouk
authors.forename: M
authors.initials: M
authors.lastname: Ben Ayed
authors.forename: N
authors.initials: N
authors.lastname: Tahri
authors.forename: C
authors.initials: C
authors.lastname: Penha-Gonçalves
authors.forename: H
authors.initials: H
authors.lastname: Masmoudi
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics* / Q000276:immunology; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D034441:Heterogeneous-Nuclear Ribonucleoproteins / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014416:Tunisia
chemical_list: D034441:Heterogeneous-Nuclear Ribonucleoproteins; C571037:RAVER2 protein, human