Association study of polymorphism in leukotriene C4 synthase and cysteinyl leukotriene receptor 1 genes with phenotype of asthma and clinical parameters in Korean children |
Jung Yeon Shim2, Byung-Joo Kim1, Young Hwa Song1, Mi-Jin Kang3, So-Yeon Lee4, Jinho Yu1, Soo-Jong Hong1 |
1Department of Pediatrics, University of Ulsan College of Medicine 2Department of Pediatrics, Sungkyunkwan University School of Medicine 3Department of Pediatrics, University of Hallym College of Medicine 4Asan Institute for Life Science |
Leukotrienes C4 synthase와 cysteinyl leukotriene receptor 1 유전자 다형성과 한국 소아 천식 표현형 및 임상 지표와의 연관성 연구 |
심정연2, 김병주1, 송영화1, 강미진3, 이소연4, 유진호1, 홍수종1 |
1울산대학교 의과대학 소아과학교실 2성균관대학교 의과대학 소아과학교실 3한림대학교 의과대학 소아과학교실 4인제대학교 의과대학 소아과학교실 |
Correspondence:
Soo-Jong Hong, Email: sjhong@amc.seoul.kr |
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Abstract |
Purpose : Cysteinyl leukotrienes are important proinflammatory mediators in asthma. Recently, it was suggested that a promoter polymorphism in the genes encoding for leukotriene C4 synthase (LTC4S), a key enzyme in the leukotriene synthetic pathway, and cysteinyl leukotriene receptor 1 (CysLTR1) might be associated with aspirin-intolerant asthma. We investigated whether polymorphisms in LTC4S and CysLTR1 genes or their interactions were associated with the asthma phenotype, lung function, or bronchial hyperreactivity (BHR) in Korean children.
Methods : A total of 856 asthmatic children and 254 non-asthmatic controls were enrolled; a skin prick test, lung function test and bronchial provocation test were performed. Of those enrolled, 395 children underwent exercise challenge tests. The LTC4S A(-444)C and CysLTR1 T(+927)C were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis.
Results : Of those enrolled, 699 children were classified as having atopic asthma and 277 children, as having exercise-induced asthma (EIA). LTC4S and CysLTR1 polymorphisms were not associated with atopic asthma, EIA, or asthma per se. Lung function and BHR were not significantly different between the wild type (AA or TT) and the variant (AC+CC or TC+CC) genotypes in asthmatics, atopic asthmatics, and EIA (+) asthmatics, while total eosinophil counts were higher in the variant type of LTC4S than in the wild type in atopic asthmatics. There were no associations between the gene-gene interactions of LTC4S and CysLTR1 genotypes and the asthma phenotypes.
Conclusion : LTC4S A(-444)C and CysLTR1 T(+927)C polymorphisms and their gene-gene interactions are not associated with asthma phenotype, lung function, or BHR in Korean children. |
Key Words:
Exercised-induced asthma, Atopic asthma, Leukotriene C4 synthase, Cysteinyl leukotriene receptor 1, Polymorphism |
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