Exp Mol Med.
2007 Dec;39(6):805-811.
Association of FOXJ1 polymorphisms with systemic lupus erythematosus and rheumatoid arthritis in Korean population
- Affiliations
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- 1Genome Research Center for Immune Disorders, School of Medicine, Wonkwang University, Iksan 570-749, Korea. htchung@wonkwang.ac.kr
- 2Department of Pathology, School of Medicine, Wonkwang University, Iksan 570-749, Korea. chaesc@wonkwang.ac.kr
- 3Department of Pharmacology, Yanbian University Medical College, 133000 Yianji, Jilin, China.
- 4Department of Microbiology and Immunology, Yanbian University Medical College, 133000 Yianji, Jilin, China.
- 5Division of Rheumatology, Department of Internal Medicine, Eulji University School of Medicine, Daejeon 301-831, Korea.
- 6Division of Rheumatology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju 501-746, Korea.
Abstract
- The forkhead-box J1 (FOXJ1) transcription factor could suppress a spontaneous activation of T cells and B cells through an induction of IkappaBbeta that results in repression of NF-kappaB activity. In Foxj1 deficiency mice, systemic autoimmune inflammation is quite common symptom. Therefore, deregulated Foxj1 is supposed to be associated with autoimmune diseases and/or other inflammatory diseases. Previously, we identified that polymorphisms of human FOXJ1 gene (g.-460C>T, g.1805G>T and g.3375G>C) are associated with allergic rhinitis in a Korean population. In present study, we compared the genotype and allele frequencies of these SNPs between healthy controls and systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA) patients. We also investigated the relationships between each genotype and the expression levels of anti-nuclear antibodies in SLE patients, and rheumatoid factor and anti-cyclic citrullinated peptide in RA patients. The frequencies of haplotypes constructed by these FOXJ1 SNPs were compared between controls and SLE (or RA) patients. The results of genotype and allele analysis showed that the prevalence of polymorphism g.3375G>C was associated with the susceptibility of SLE (P = 0.0072 and 0.0042, respectively). But no significant association was found with RA. In the haplotype analysis, however, the main CGG showed a weak association between controls and RA patients (P = 0.048).
Keyword
MeSH Terms
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Adult
Arthritis, Rheumatoid/complications/*genetics
Asian Continental Ancestry Group
Female
Forkhead Transcription Factors/*genetics
Gene Frequency
Genetic Predisposition to Disease
Haplotypes
Humans
Korea
Lupus Erythematosus, Systemic/complications/*genetics
Male
Middle Aged
Polymorphism, Genetic
*Polymorphism, Single Nucleotide
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