Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy

Omid Khalilzadeh, Hoda Mojazi Amiri, Maryam Tahvildari, Mehdi Anvari, Alireza Esteghamati, Zahra Mobarra, Zohreh Tehranchinia, Armin Rashidi, Aliakbar Amirzargar

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13 Scopus citations


Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) is a well-known molecule that regulates T cell activity, with polymorphisms at different regions of this gene having been associated with autoimmune conditions. Pretibial myxedema (PTM), also called Graves' dermopathy, is an autoimmune extrathyroidal manifestation of Graves' disease. We opted to investigate the relationship between three single nucleotide polymorphisms of the CTLA-4 gene (+49A/G, and -318C/T and -1147C/T) and PTM in Iranian patients with Graves' ophthalmopathy (GO). A total of 105 unrelated Iranian patients with GO from the outpatient endocrine clinic of a large university general hospital as well as 103 healthy controls were studied. The genomic DNA was extracted from venous blood samples by a salting out method, and the polymorphisms at +49, -318 and -1147 positions of the CTLA-4 gene were determined using the polymerase chain reaction-restriction fragment length polymorphism method. The GG genotype (OR = 6.000, 95% CI = 1.805-19.940, P = 0.005) and the G allele (OR = 2.653, 95% CI = 1.314-5.357, P = 0.009) at position +49 were significantly associated with PTM in the patient group. The same genotype and allele were also significantly more common among patients (with or without PTM) than controls. No significant association was found for the other two polymorphisms. In conclusion, the +49G allele is associated with increased risk of PTM in patients with GO. Studies with larger sample sizes are needed to confirm the results of the present study.

Original languageEnglish (US)
Pages (from-to)719-723
Number of pages5
JournalArchives of Dermatological Research
Issue number10
StatePublished - 2009

Bibliographical note

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


  • CTLA-4 gene
  • Graves' dermopathy
  • Graves' disease
  • Polymorphism
  • Pretibial myxedema


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