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Ter Arkh. 2015;87(10):67-71. doi: 10.17116/terarkh2015871067-71.

[Association of CTLA4 and TNF gene polymorphisms with endocrine ophthalmopathy in ethnic Russian patients with Graves' disease].

Terapevticheskii arkhiv

[Article in Russian]
N S Martirosian, A M Burdennyi, L V Trukhina, O G Panteleeva, S V Saakyan, N A Petunina, V V Nosikov

Affiliations

  1. I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia; N.M. Emanuel Institute of Biochemical Physics, Russian Academy of Sciences, Moscow, Russia.
  2. N.M. Emanuel Institute of Biochemical Physics, Russian Academy of Sciences, Moscow, Russia.
  3. I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia.
  4. Helmholtz Moscow Research Institute of Eye Diseases, Ministry of Health of Russia, Moscow, Russia.

PMID: 26978177 DOI: 10.17116/terarkh2015871067-71

Abstract

AIM: To analyze the associations of the rs3087243 CTLA4 polymorphism and the rs1800629 TNF polymorphism with endocrine ophthalmopathy (EOP) in ethnic Russian patients with Graves' disease (GD).

MATERIAL AND METHODS: The case-control study enrolled 205 patients with GD. The distribution of alleles and genotypes of the rs3087243 CTLA4 and rs1800629 TNF polymorphisms was studied in 141 patients with GD and EOP (a GD+EOP group) and 64 patients with GD without EOP (a GD-EOP group). The polymorphic alleles were identified by polymerase chain reaction-restriction fragment length analysis.

RESULTS: The patients with GD in their history and EOP had significantly higher frequencies of A allele and AA genotype and a lower proportion of G allele and GG genotype of the rs3087243 CTLA4 polymorphism. Comparative analysis revealed no significant differences in the frequency of the alleles and genotypes of the rs1800629 TNF polymorphism.

CONCLUSION: The rs3087243 CTLA4 polymorphism is associated with the risk of EOP in ethnic Russian patients with GD.

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