Putative association of RUNX1 polymorphisms with IgE levels in a Korean population

• Published in: Experimental & molecular medicine Vol. 38; no. 5; pp. 583 - 588
• Main Authors: Chae, Soo-Cheon, Park, Byung Lae, Park, Choon-Sik, Ryu, Ha-Jung, Yang, Yun-Sik, Lee, Soo Ok, Choi, Yoo Hyun, Kim, Eun Mi, Uh, Soo Taek, Kim, Young Hoon, Kim, Ka-Kyung, Oh, Bermseok, Chung, Hun-Taeg, Kimm, Kuchan, Shin, Hyoung Doo
• Format: Journal Article
• Language: English
• Published: United States Springer Nature B.V 31.10.2006; 생화학분자생물학회
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Asthma - epidemiology; Asthma - genetics; Child; Child, Preschool; Cohort Studies; Core Binding Factor Alpha 2 Subunit - genetics; Data Collection; Female; Humans; Immunoglobulin E - blood; Korea; Male; Middle Aged; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Risk Factors; Sequence Analysis, DNA; 생화학; Korea
• ISSN: 2092-6413; 1226-3613; 2092-6413
• DOI: 10.1038/emm.2006.68

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.