@Article{ecn.2007.0104,
AUTHOR = {Maha Kammoun-Krichen, Noura Bougacha-Elleuch, Kaouthar Makni, Maha Rebai, Ahmed Rebai, Mouna Mnif, Mohamed Abid, Joumaa Jouida, Hammadi Ayadi},
TITLE = {Association analysis of IL1 gene polymorphisms in autoimmune thyroid diseases in the Tunisian population},
JOURNAL = {European Cytokine Network},
VOLUME = {18},
YEAR = {2007},
NUMBER = {4},
PAGES = {17--21},
URL = {http://www.techscience.com/ECN/v18n4/65962},
ISSN = {1952-4005},
ABSTRACT = {Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and autoimmune hypothy-roidism
(AH), are inherited as complex traits. Among the genes contributing to AITD susceptibility are genes of
the IL-1 family. IL-1 regulates T and B lymphocyte maturation, including the induction of several cytokines and
cytokine receptors. Therefore, disturbances of this balance may not only play a role in inflammation but also in
the pathogenesis of autoimmunity. In order to investigate genetic association of IL-1 gene polymorphisms with
AITDs, we performed both a familial study in a large Tunisian pedigree with high prevalence of AITDs (64
patients and 176 controls), and a case-control study (131 GD, unrelated patients and 225 healthy controls). PCR
and PCR-RFLP methods were used to analyse respectively a VNTR in the IL-1RN gene and three SNPs in both
IL-1B genes (-511 C/T and +3954 C/T) and IL1A (-889 C/T). A family-based association study showed an
association of the IL1B+3954 C/T polymorphism (p = 0.02) and two haplotypes IL1RN*3/C/T/T and
IL1RN*1/C/T/T (p = 0.009 and p = 0.047 respectively) with AITDs. The case-control study is the first study
revealing a significant association of the IL1A-889 C/T polymorphism (chi2 = 10.23; p = 0.0014) with susceptibility
to GD. Our data suggest that the IL-1 gene cluster may harbour susceptibility genes for AITDs and GD
pathogenesis in the Tunisian population.},
DOI = {10.1684/ecn.2007.0104}
}