Molecular Biology Reports

, Volume 41, Issue 11, pp 7133–7139 | Cite as

Autoimmune diseases association study with the KIAA1109–IL2–IL21 region in a Tunisian population

  • Dorra Bouzid
  • Hajer Fourati
  • Ali Amouri
  • Isabel Marques
  • Olfa Abida
  • Nabil Tahri
  • Carlos Penha-Gonçalves
  • Hatem Masmoudi


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.


Systemic lupus erythematosus Ulcerative colitis Crohn’s disease Tunisia KIAA1109–IL2–IL21 region Haplotype 



We thank Mr. João Costa for providing technical support in genotyping. This 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 Gulbenkian de Ciência, Oeiras, Portugal.

Supplementary material

11033_2014_3596_MOESM1_ESM.doc (40 kb)
Supplementary material 1 (DOC 40 kb)


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Dorra Bouzid
    • 1
  • Hajer Fourati
    • 1
  • Ali Amouri
    • 2
  • Isabel Marques
    • 3
  • Olfa Abida
    • 1
  • Nabil Tahri
    • 2
  • Carlos Penha-Gonçalves
    • 3
  • Hatem Masmoudi
    • 1
  1. 1.Immunology Department, Medicine School and Habib Bourguiba HospitalUniversité de SfaxSfaxTunisia
  2. 2.Gastroenterology Department, Hédi Chaker HospitalUniversité de SfaxSfaxTunisia
  3. 3.Instituto Gulbenkian de CiênciaOeirasPortugal

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