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1.
Vestn Oftalmol ; 135(5. Vyp. 2): 192-198, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31691659

RESUMO

Ophthalmologic manifestation of Sjogren's disease (SD) and rheumatoid arthritis (RA) is dry keratoconjunctivitis (dry eye disease; DED). PURPOSE: To study the relationship of polymorphic markers rs7947461 (C/T), rs915956 (C/T), rs4144331 (C/A) of the TRIM21 gene with the severity of DED in patients with RA and SD. MATERIAL AND METHODS: The study included 70 patients with RA (n=27) and SD (n=43). The control group consisted of volunteers without a history of RA or SD (n=35). Alleles of the polymorphic marker C660T rs7947461 of the TRIM21 gene were identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method; alleles of the polymorphic marker rs915956 (C/T) and rs4144331 (C/A) of the TRIM21 gene were identified by analyzing DNA melting curves. RESULTS: An association was found between the predisposing genotype (TT) of rs7947461 polymorphic marker and the risk of developing severe DED. The AA genotype of rs4144331 polymorphic marker was found only in severe DED (c2=7.74; OR=17.46, CI95%=1.96-318.38, p=0.02). CONCLUSION: An association was established between rs7947461 (rs660) and rs4144331 and the risk of developing severe DED.


Assuntos
Artrite Reumatoide , Ceratoconjuntivite , Ribonucleoproteínas/genética , Síndrome de Sjogren , Alelos , Artrite Reumatoide/genética , Predisposição Genética para Doença , Genótipo , Humanos , Ceratoconjuntivite/genética , Polimorfismo Genético , Síndrome de Sjogren/genética
2.
Vestn Oftalmol ; 135(5. Vyp. 2): 254-259, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31691669

RESUMO

The article reviews literature on relationships between polymorphic variants of the genes THBS1, GTF2I, MUC1, TRIM21, STAT4, PTPN22 with clinical features of dry keratoconjunctivitis in rheumatoid arthritis and Sjogren's syndrome. The development and implementation of a method for analyzing polymorphic gene variants used to diagnose dry keratoconjunctivitis in rheumatoid arthritis and Sjogren's syndrome will allow assessment of the possibility of developing dry keratoconjunctivitis and/or its progression in patients with autoimmune diseases or in people at risk. Determination of clinical and morphological regularities of dry keratoconjunctivitis in accordance with the revealed molecular and genetic changes will contribute to better understanding of the etiology and pathogenesis of ophthalmological manifestations of autoimmune diseases, and will also help improve the diagnostics and prognosis of dry keratoconjunctivitis.


Assuntos
Artrite Reumatoide , Ceratoconjuntivite , Síndrome de Sjogren , Biomarcadores , Humanos , Prognóstico , Proteína Tirosina Fosfatase não Receptora Tipo 22
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