Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis.
Forkhead-box J1 (FOXJ1) is a presumed transcription factor that can suppress T cell activity, at least partially, through the repression of NFkappaB activity. Thus, dysregulation of FOXJ1 is thought to be associated with autoimmune diseases and/or other inflammatory diseases. To investigate the association between single nucleotide polymorphisms (SNPs) of human FOXJ1 and allergic rhinitis, we scanned the whole human FOXJ1 gene, including the promoter region, by direct sequencing of DNA from 32 individuals. We identified seven SNPs, three of which (g.-460C>T, g.1805G>T, and g.3375G>C) were chosen for large sample size genotyping (n=713), and to assess the genotype frequencies of these SNPs between controls and allergic rhinitis patients. We also investigated the relationships of each genotype with serum total IgE levels in allergic rhinitis patients, and compared the frequencies of haplotypes constructed by these SNPs between the two groups. Our results suggest that the SNPs g.-460C>T, g.1805G>T and g.3375G>C in the human FOXJ1 gene might be associated with susceptibility to allergic rhinitis (P=0.0184, 0.0076, and 0.0143, respectively). The main haplotype, CGG, also revealed a significant association with allergic rhinitis (P=0.000018). However, no significant association was found between serum total IgE levels and the genotypes of these polymorphisms.
Li
Chun-Shi
CS
Department of Microbiology and Immunology, School of Medicine, Wonkwang University, Iksan, 570-749, Chonbuk, South Korea.|Department of Pharmacology, Yanbian University Medical College, Yianji, 133000, Jilin, China.
Chae
Soo-Cheon
SC
Genome Research Center for Immune Disorders, School of Medicine, Wonkwang University, Iksan, 570-749, Chonbuk, South Korea.
Lee
Jae-Hoon
JH
Department of Otolaryngology, School of Medicine, Wonkwang University, Iksan, 570-749, Chonbuk, South Korea.
Zhang
Qinggao
Q
Department of Microbiology and Immunology, Yanbian University Medical College, Yianji, 133000, Jilin, China.
Chung
Hun-Taeg
HT
Department of Microbiology and Immunology, School of Medicine, Wonkwang University, Iksan, 570-749, Chonbuk, South Korea. htchung@wonkwang.ac.kr.|Genome Research Center for Immune Disorders, School of Medicine, Wonkwang University, Iksan, 570-749, Chonbuk, South Korea. htchung@wonkwang.ac.kr.
D000328:Adult; D000465:Algorithms; D000483:Alleles; D016022:Case-Control Studies; D016001:Confidence Intervals; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012221:Rhinitis, Allergic, Perennial / Q000235:genetics*; D006255:Rhinitis, Allergic, Seasonal / Q000235:genetics*; D017422:Sequence Analysis, DNA
D051858:Forkhead Transcription Factors; D007073:Immunoglobulin E