TY  - EJOU
AU  - Kammoun-Krichen, Maha 
AU  - Bougacha-Elleuch, Noura 
AU  - Makni, Kaouthar 
AU  - Rebai, Maha 
AU  - Rebai, Ahmed 
AU  - Mnif, Mouna 
AU  - Abid, Mohamed 
AU  - Jouida, Joumaa 
AU  - Ayadi, Hammadi 

TI  - Association analysis of IL1 gene polymorphisms in autoimmune thyroid diseases in the Tunisian population
T2  - European Cytokine Network

PY  - 2007
VL  - 18
IS  - 4
SN  - 1952-4005

AB  - 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.
KW  - IL-1
KW  -  polymorphisms
KW  -  genetic association
KW  -  autoimmune thyroid diseases

DO  - 10.1684/ecn.2007.0104