학술논문

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE
Document Type
article
Source
European Journal of Human Genetics. 19(4)
Subject
Biological Sciences
Biomedical and Clinical Sciences
Genetics
Clinical Research
Autoimmune Disease
Lupus
2.1 Biological and endogenous factors
Aetiology
Inflammatory and immune system
Genetic Predisposition to Disease
Genome-Wide Association Study
Haplotypes
Humans
I-kappa B Kinase
Interferon Type I
Interleukin-8
Linkage Disequilibrium
Lupus Erythematosus
Systemic
STAT1 Transcription Factor
Signal Transduction
Sweden
White People
systemic lupus erythematosus
type I interferon system
candidate gene study
single nucleotide polymorphism
IKBKE
IL8
Clinical Sciences
Genetics & Heredity
Clinical sciences
Language
Abstract
Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease in which the type I interferon pathway has a crucial role. We have previously shown that three genes in this pathway, IRF5, TYK2 and STAT4, are strongly associated with risk for SLE. Here, we investigated 78 genes involved in the type I interferon pathway to identify additional SLE susceptibility loci. First, we genotyped 896 single-nucleotide polymorphisms in these 78 genes and 14 other candidate genes in 482 Swedish SLE patients and 536 controls. Genes with P