1. Association of interferon-induced helicase C domain (IFIH1) gene polymorphisms with systemic lupus erythematosus and a relevant updated meta-analysis
- Author
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Suelen Cristina de Lima, Paula Sandrin-Garcia, Eduardo Antônio Donadi, C. Addobbati, J de Azevêdo Silva, L. A. Cavalcanti Brandão, J. A. Trés Pancoto, Ronald Moura, Sergio Crovella, De Azevedo Silva, J., Lima, S. C., Addobbati, C., Moura, R., Cavalcanti Brandão, L. A., Trés Pancoto, J. A., Donadi, E. A., Crovella, S., and Sandrin-Garcia, P.
- Subjects
0301 basic medicine ,Interferon-Induced Helicase, IFIH1 ,endocrine system diseases ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Interferon ,immune system diseases ,Genetics ,medicine ,Brazil ,Genetic Predisposition to Disease ,Humans ,Immunity, Innate ,Interferon Type I ,Lupus Erythematosus, Systemic ,Signal Transduction ,Genetic Association Studies ,Innate ,Polymorphism ,skin and connective tissue diseases ,Interferon-Induced Helicase ,Molecular Biology ,Gene ,Genetic association ,IFIH1 ,Innate immune system ,IFIH1 Gene ,Lupus Erythematosus ,Systemic ,Immunity ,Peripheral tolerance ,General Medicine ,Single Nucleotide ,030104 developmental biology ,Immunology ,Interferon type I ,medicine.drug ,Human - Abstract
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.
- Published
- 2016