Association of interferon-induced helicase C domain (IFIH1) gene polymorphisms with systemic lupus erythematosus and a relevant updated meta-analysis.
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.
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil j.azvedo@gmail.com.|Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil j.azvedo@gmail.com.
J De Azevedo
JA
Silva
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
S C
SC
Lima
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.|Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
C
C
Addobbati
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.|Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
R
R
Moura
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.|Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.|Departamento de Patologia, Universidade Federal de Pernambuco, Recife, PE, Brasil.
L A Cavalcanti
LA
Brandão
Universidade Federal do Espírito Santo, São Mateus, ES, Brasil.
J A Trés
JA
Pancoto
Divisão de Imunologia Clínica, Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
E A
EA
Donadi
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.|Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
S
S
Crovella
Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.|Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
P
P
Sandrin-Garcia
D001938:Brazil; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007370:Interferon Type I / Q000235:genetics*; D000072640:Interferon-Induced Helicase, IFIH1 / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D015398:Signal Transduction
D007370:Interferon Type I; C452815:IFIH1 protein, human; D000072640:Interferon-Induced Helicase, IFIH1