FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY
| Autor: | M. Yu. Krylov, L. P. Ananyeva, O. A. Koneva, M. N. Starovoitova, E. Yu. Samarkina, O. V. Desinova, O. B. Ovsyannikova, E. N. Aleksandrova, A. A. Novikov, I. A. Guseva |
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| Jazyk: | ruština |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Научно-практическая ревматология, Vol 55, Iss 1, Pp 37-40 (2017) |
| Druh dokumentu: | article |
| ISSN: | 1995-4484 1995-4492 |
| DOI: | 10.14412/1995-4484-2017-37-40 |
| Popis: | The FAS antigen (Apo-1/CD95) is a key molecule of apoptosis in most cell types, including activated immune cells and fibroblasts. The FAS gene promoter region contains a single-nucleotide polymorphism (-670A/G) associated with a substitution of the nucleotide arginine for guanine, which is associated with the predisposition to systemic lupus erythematosus, multiple sclerosis, sarcoidosis, and autoimmune hepatitis.Objective: to test the hypothesis that the FAS -670А/G polymorphism may predispose to systemic sclerosis (SS), its clinical and autoimmune phenotypes in a Russian patient sample.Subjects and methods. The instigation enrolled 90 SS patients who were classified according to clinical and autoimmune phenotypes. A control group consisted of 152 apparently healthy unrelated individuals matched for sex and age. The FAS -670А/G polymorphism was studied by polymerase chain reaction, followed by restriction fragment length polymorphism analysis.Results and discussion. A relatively small sample of Russian patients showed no statistically significant association of the studied FAS -670 A/G polymorphism with the predisposition to SS as a whole and the majority of its clinical and immunological phenotypes. There was a statistically significant positive association of the G allele (the FAS -670 GG+GA genotype) with the presence of digital ulcers and the chronic course of the disease. The G allele (the FAS -670 GG+ GA) was detected less frequently in patients with interstitial lung disease (ILD) than in those without ILD.Conclusion. The findings show that the FAS -670A>G polymorphism plays a role in the predisposition to some clinical phenotypes of SS in Russian patients. |
| Databáze: | Directory of Open Access Journals |
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