Genetic susceptibility to Graves' ophthalmopathy: The role of polymorphisms in anti-inflammatory cytokine genes

Omid Khalilzadeh, Mehdi Anvari, Alireza Esteghamati, Fatemeh Momen-Heravi, Armin Rashidi, Hoda Mojazi Amiri, Maryam Tahvildari, Mahdi Mahmoudi, Aliakbar Amirzargar

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Background: Various polymorphisms occur in cytokine genes involved in inflammatory processes in Graves' ophthalmopathy (GO). Anti-inflammatory cytokines such as transforming growth factor- β (TGF-β), interleukin-10 (IL-10) and interleukin-4 (IL-4) are among those believed to be involved in the disease process. In this study, we investigated the association between 8 polymorphisms within the mentioned cytokines and GO. Methods: The following polymorphisms were studied in 50 patients with GO, 57 Graves' patients without GO and 140 healthy individuals using polymerase chain reaction with sequence-specific primers: TGF-β (869C/T, 915G/C), IL-10 (-1082A/G, -819C/T, -592C/A) and IL-4 (-1098T/G, -590T/C, -33C/T). A corrected p value less than 0.05 was considered statistically significant. Results: The TGF-β 915C allele (Odds Ratio [OR]2.20) and CC genotype (OR7.50) as well as 869C allele (OR2.21) showed significant correlations with GO. Regarding IL-4 polymorphisms, the -1098G allele (OR2.09) and GG genotype (OR7.49), and the -33T allele (OR2.05) and TT genotype (OR4.00) were significantly associated with GO. The IL-10 -819TT genotype (OR5.00) was significantly correlated with GO. Conclusion: This is the first study to show that polymorphisms in anti-inflammatory cytokine genes are associated with susceptibility to GO.

Original languageEnglish (US)
Pages (from-to)215-220
Number of pages6
JournalOphthalmic Genetics
Issue number4
StatePublished - Dec 2010
Externally publishedYes

Bibliographical note

Funding Information:
This study is supported financially by a grant from Tehran University of Medical Sciences, Tehran, Iran.


  • IL-4
  • TGF-β; IL-10
  • graves' ophthalmopathy
  • polymorphism


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