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dc.contributor.authorBouzid, Dorra-
dc.contributor.authorFourati, Hajer-
dc.contributor.authorAmouri, Ali-
dc.contributor.authorMarques, Isabel-
dc.contributor.authorAbida, Olfa-
dc.contributor.authorTahri, Nabil-
dc.contributor.authorPenha-Gonçalves, Carlos-
dc.contributor.authorMasmoudi, Hatem-
dc.identifier.citationBouzid, D., Fourati, H., Amouri, A. et al. Mol Biol Rep (2014) 41: 7133. https://doi.org/10.1007/s11033-014-3596-5pt_PT
dc.descriptionThis 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: https://link.springer.com/article/10.1007%2Fs11033-014-3596-5pt_PT
dc.descriptionThis deposit is composed by the main article plus the supplementary materials of the publication.pt_PT
dc.descriptionThis publication hasn't any creative commons license associated.pt_PT
dc.descriptionFurther funders are not indicated in the document.pt_PT
dc.description.abstractAutoimmune 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.pt_PT
dc.description.sponsorshipThis work was supported by a grant from the «Ministère de la recherche Scientifique et de la recherche scientifique» (Tunisia). Genotyping was supported by the Instituto Gulbenkiande Ciência, Oeiras, Portugal.pt_PT
dc.publisherSpringer Verlagpt_PT
dc.subjectSystemic lupus erythematosuspt_PT
dc.subjectUlcerative colitispt_PT
dc.subjectCrohn’s diseasept_PT
dc.subjectKIAA1109–IL2–IL21 regionpt_PT
dc.titleAutoimmune diseases association study with the KIAA1109–IL2–IL21 region in a Tunisian populationpt_PT
degois.publication.titleMolecular Biology Reportspt_PT
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