FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY
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 associate...
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IMA PRESS LLC
2017-03-01
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| Series: | Научно-практическая ревматология |
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| Online Access: | https://rsp.mediar-press.net/rsp/article/view/2336 |
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| author | 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 |
| author_facet | 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 |
| author_sort | M. Yu. Krylov |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8b74491bd30c4e2aa5e61a38fc9bf40c |
| institution | Kabale University |
| issn | 1995-4484 1995-4492 |
| language | Russian |
| publishDate | 2017-03-01 |
| publisher | IMA PRESS LLC |
| record_format | Article |
| series | Научно-практическая ревматология |
| spelling | doaj-art-8b74491bd30c4e2aa5e61a38fc9bf40c2025-08-20T03:59:31ZrusIMA PRESS LLCНаучно-практическая ревматология1995-44841995-44922017-03-01551374010.14412/1995-4484-2017-37-402197FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDYM. Yu. Krylov0L. P. Ananyeva1O. A. Koneva2M. N. Starovoitova3E. Yu. Samarkina4O. V. Desinova5O. B. Ovsyannikova6E. N. Aleksandrova7A. A. Novikov8I. A. Guseva9V.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyThe 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.https://rsp.mediar-press.net/rsp/article/view/2336fas genepolymorphismsystemic sclerosisclinical and serological phenotypes |
| spellingShingle | 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 FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY Научно-практическая ревматология fas gene polymorphism systemic sclerosis clinical and serological phenotypes |
| title | FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY |
| title_full | FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY |
| title_fullStr | FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY |
| title_full_unstemmed | FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY |
| title_short | FAS APOPTOTIC GENE POLYMORPHISM (-670A/G) IS ASSOCIATED WITH CLINICAL PHENOTYPES OF SYSTEMIC SCLEROSIS IN A RUSSIAN POPULATION: A PILOT STUDY |
| title_sort | fas apoptotic gene polymorphism 670a g is associated with clinical phenotypes of systemic sclerosis in a russian population a pilot study |
| topic | fas gene polymorphism systemic sclerosis clinical and serological phenotypes |
| url | https://rsp.mediar-press.net/rsp/article/view/2336 |
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