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
Original Article

Abstract

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.

Keywords

Graves’ disease Graves’ dermopathy CTLA-4 gene Pretibial myxedema Polymorphism 

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Omid Khalilzadeh
    • 1
  • Hoda Mojazi Amiri
    • 1
  • Maryam Tahvildari
    • 1
  • Mehdi Anvari
    • 1
  • Alireza Esteghamati
    • 2
  • Zahra Mobarra
    • 3
  • Zohreh Tehranchinia
    • 4
  • Armin Rashidi
    • 2
  • Aliakbar Amirzargar
    • 1
    • 5
  1. 1.Molecular Immunology and Immunogenetics Research CenterMedical Sciences/University of TehranTehranIran
  2. 2.Endocrinology and Metabolism Research Center (EMRC), Vali-Asr HospitalMedical Sciences/University of TehranTehranIran
  3. 3.Faculty of Science and Research, Department of BiologyIslamic Azad UniversityTehranIran
  4. 4.Skin Research Center, Shohada-Tajrish HospitalShaheed Beheshti University of Medical SciencesTehranIran
  5. 5.Immunogenetics Lab, Department of Immunology, School of MedicineMedical Sciences/University of TehranTehranIran

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