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).
Highlights
Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are the representative autoimmune diseases
The seven single nucleotide polymorphism (SNP), [g.460C>T and g.342G>C in promoter region, g.1164G>C, g.1805G >T, g.1824C>G and g.1849G>C in intron1, and g.3375G>C in 3'-UTR region, in human forkhead-box J1 (FOXJ1) gene and reported that the g.460C>T, g.1805G>T and g.3375G>C polymorphisms in FOXJ1 gene were associated with susceptibility to allergic rhinitis (Li et al, 2006)
We attempted to find out whether these polymorphisms were further associated with genetic predisposition of SLE and RA
Summary
Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are the representative autoimmune diseases. These diseases are arisen by the complex interaction between multiple genetic factors and environmental factors (Kotzin, 1996; Gregersen, 1999). The clinical manifestations of RA are thought to be triggered by over-activation of helper T1 (Th1) cell (Simon et al, 1994; Dolhain et al, 1996) while SLE is characterized by elevation of both Th1 and Th2 cells. RA and SLE are most commonly presented in women. The frequency of SLE between female and male is 9 to (Hochberg, 1997). Rheumatoid factor (RF) has been widely used as a screening test for patients with arthritis. More recently a highly specific autoantibody system has been described for RA, in which the synthetic cyclic citrullinated peptide (CCP) with deiminated arginines is used as the antigen for anti-CCP antibodies (Schellekens et al, 2000)
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