Exp Mol Med.
2006 Oct;38(5):583-588.
Putative association of RUNX1 polymorphisms with IgE levels in a Korean population
- Affiliations
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- 1Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Korea.
- 2Department of Ophthalmology, Wonkwang University School of Medicine, Iksan, Korea.
- 3Department of Microbiology and Immunology, Wonkwang University School of Medicine, Iksan, Korea.
- 4Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, Korea.
- 5Asthma Genome Research Group, Soonchunhyang University Hospital, Bucheon, Korea.
- 6National Genome Research Institute, National Institute of Health, Seoul, Korea. k2kimm2@nih.go.kr
Abstract
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RUNX1, a member of the runt domain gene family of transcription factors, encodes a heterodimeric transcription factor and regulates the expression of various genes related to hematopoiesis and myeloid differentiation. RUNX1 has been one of the target genes for research into various autoimmune diseases due to its properties as a transcription factor and functional distribution for chromosomal translocation. In an effort to identify additional gene polymorphisms in which variants have been implicated in asthma, we investigated the genetic polymorphisms in RUNX1 to evaluate it as a potential candidate gene for a host genetic study of asthma and IgE production. We identified 19 sequence variants by direct DNA sequencing in 24 individuals of which four common variants were selected for genotyping in our asthma cohort (1,055 asthmatic patients, 384 normal controls). Using logistic regression analysis for association with the risk of asthma, while controlling for age, gender, and smoking status as covariates, no significant associations with the risk of asthma were detected. However, two polymorphisms in the promoter region (-2084G>C and -1282G>A) showed a marginal association with total IgE levels (0.03 and 0.03 in recessive models, respectively). Our findings suggest that polymorphisms in RUNX1 might be one of the genetic factors for the regulation of IgE production.