Graves' disease and gene polymorphism of TNF-α, IL-2, IL-6, IL-12, and IFN-γ

Mehdi Anvari, Omid Khalilzadeh, Alireza Esteghamati, Fatemeh Momen-Heravi, Mahdi Mahmoudi, Shadi Abdar Esfahani, Armin Rashidi, Aliakbar Amirzargar

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


The role of genetic factors in the pathogenesis of Graves' disease (GD) is not clear. The purpose of this study was to investigate the association between single nucleotide polymorphisms in pro-inflammatory cytokine genes and GD in Iranian patients. A case-control hospital-based study was carried out on 107 GD patients and 140 healthy controls. Cytokine typing was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP) assay. The allele and genotype frequencies of the following cytokine genes were determined: TNF-α (-308A/G, -238A/G), IL-2 (-330T/G, +166G/T), IL-6 (-174C/G, A/G nt565), IL-12 (-1188A/C), and IFN-γ (UTR 5644A/T). The following alleles and genotypes were significantly overrepresented in patients: TNF-α -308A allele (P < 0.01) and AA genotype (P < 0.05), IL-2 -330G allele (P < 0.01) and GG genotype (P < 0.01), IL-6 -174C allele (P < 0.01) and CC genotype (P < 0.01), IL-12 -1188C allele (P < 0.01) and CC genotype (P < 0.01), IFN-γ UTR5644T allele (P < 0.01) and TT genotype (P < 0.01). In conclusion, this is the first study to show a significant association between GD and IL-2 -330G, IL-12 -1188C, and IFN-γ UTR 5644T alleles. Our results support the hypothesis that polymorphism in pro-inflammatory cytokines might be involved in predisposition to GD.

Original languageEnglish (US)
Pages (from-to)344-348
Number of pages5
Issue number2
StatePublished - Apr 2010

Bibliographical note

Funding Information:
Acknowledgment This study was supported by a grant from the Research Committee of Tehran University of Medical Sciences (TUMS), Tehran, Iran


  • Gene
  • Grave's disease
  • Interleukin
  • Polymorphism


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