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Genet Mol Res ; 15(4)2016 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-27813554

RESUMO

Systemic lupus erythematosus (SLE) is a complex autoimmune disorder presenting heterogeneous clinical manifestations. A number of genes involved in SLE susceptibility are related to the type I interferon (IFN) pathway. IFN mediates innate immune responses and its increased levels contribute to the breakdown of peripheral tolerance. Interferon-induced helicase C domain 1 (IFIH1) activates and modulates IFN responses through its caspase recruitment domain. In this study, we analyzed four IFIH1 single nucleotide polymorphisms (SNPs): rs6432714, rs10930046, rs1990760, and rs3747517, in 337 patients with SLE and 373 healthy individuals from southeast and northeast Brazil. Our results did not find an association between IFIH1 SNPs and SLE (P value >0.025 after Bonferroni's adjustment). However, meta-analysis of peer-reviewed articles from 2008 to 2015 and data from this study indicated an association between rs1990760 and SLE onset (P < 0.05). This is the first association analysis on IFIH1 polymorphisms and SLE susceptibility in Brazilian populations.


Assuntos
Estudos de Associação Genética , Interferon Tipo I/genética , Helicase IFIH1 Induzida por Interferon/genética , Lúpus Eritematoso Sistêmico/genética , Brasil , Predisposição Genética para Doença , Humanos , Imunidade Inata/genética , Lúpus Eritematoso Sistêmico/patologia , Polimorfismo de Nucleotídeo Único , Transdução de Sinais
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