title: Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population.
abstract: Autoimmune diseases (ADs) share several genetic factors resulting in similarity of disease mechanisms. For instance polymorphisms from the KIAA1109-interleukin 2 (IL2)-IL21 block in the 4q27 chromosome, has been associated with a number of autoimmune phenotypes. Here we performed a haplotype-based analysis of this AD related region in Tunisian patients. Ten single nucleotide polymorphisms (rs6534347, rs11575812, rs2069778, rs2069763, rs2069762, rs6852535, rs12642902, rs6822844, rs2221903, rs17005931) of the block were investigated in a cohort of 93 systemic lupus erythematosus (SLE), 68 ulcerative colitis (UC), 39 Crohn's disease (CD) patients and 162 healthy control subjects of Tunisian origin. In SLE population, haplotypes AGCAGGGTC, AGAAGAGTC, AGAAGGGTC and AGCCGAGTC provided significant evidence of association with SLE risk (p = 0.013, 0.028, 0.018 and 0.048, respectively). In the UC population, haplotype AGCCGGGTC provided a susceptibility effect for UC (p = 0.025). In the CD population, haplotype CAGGCC showed a protective effect against the development of CD (p = 0.038). Haplotype AAGGTT provided significant evidence to be associated with CD risk (p = 0.007). Our results support the existence of the associations found in the KIAA1109/IL2/IL21 gene region with ADs, thus confirms that the 4q27 locus may contribute to the genetic susceptibility of ADs in the Tunisian population.
authors.affiliation: Immunology Department, Medicine School and Habib Bourguiba Hospital, Université de Sfax, 3029, Sfax, Tunisia, dorra-ing@voila.fr.
authors.forename: Dorra
authors.initials: D
authors.lastname: Bouzid
authors.forename: Hajer
authors.initials: H
authors.lastname: Fourati
authors.forename: Ali
authors.initials: A
authors.lastname: Amouri
authors.forename: Isabel
authors.initials: I
authors.lastname: Marques
authors.forename: Olfa
authors.initials: O
authors.lastname: Abida
authors.forename: Nabil
authors.initials: N
authors.lastname: Tahri
authors.forename: Carlos
authors.initials: C
authors.lastname: Penha-Gonçalves
authors.forename: Hatem
authors.initials: H
authors.lastname: Masmoudi
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007376:Interleukin-2 / Q000235:genetics*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D014416:Tunisia
chemical_list: D007376:Interleukin-2; C000598872:KIAA1109 protein, human; D011506:Proteins