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Title: Autoimmune diseases association study with the KIAA1109–IL2–IL21 region in a Tunisian population
Author: Bouzid, Dorra
Fourati, Hajer
Amouri, Ali
Marques, Isabel
Abida, Olfa
Tahri, Nabil
Penha-Gonçalves, Carlos
Masmoudi, Hatem
Keywords: Systemic lupus erythematosus
Ulcerative colitis
Crohn’s disease
KIAA1109–IL2–IL21 region
Issue Date: Nov-2014
Publisher: Springer Verlag
Citation: Bouzid, D., Fourati, H., Amouri, A. et al. Mol Biol Rep (2014) 41: 7133.
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.
Description: This deposit is composed by a publication in which the IGC's authors have had the role of collaboration (it's a collaboration publication). This type of deposit in ARCA is in restrictedAccess (it can't be in open access to the public), and can only be accessed by two ways: either by requesting a legal copy from the author (the email contact present in this deposit) or by visiting the following link:
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This publication hasn't any creative commons license associated.
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Peer review: yes
DOI: 10.1007/s11033-014-3596-5
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Appears in Collections:DG - Artigos em revistas científicas

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