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Association of genetic variation in chitotriosidase with atopy in Korean children

 Kyung Won Kim  ;  Joonhee Park  ;  Ji Hyun Lee  ;  Hee Seon Lee  ;  Jaechun Lee  ;  Keun-Hwa Lee  ;  Kyung Eun Lee  ;  Jung Yeon Hong  ;  Mi Na Kim  ;  Won Il Heo  ;  Min Goo Lee  ;  Myung Hyun Sohn  ;  Kyu-Earn Kim 
 Annals of Allergy, Asthma & Immunology, Vol.110(6) : 444-449, 2013 
Journal Title
 Annals of Allergy, Asthma & Immunology 
Issue Date
BACKGROUND: The atopic diseases, which are the most common chronic diseases of childhood, are complex genetic diseases that involve the contribution of multiple genetic factors to disease pathophysiology. Chitotriosidase is involved in innate immunity, but the association of chitotriosidase with allergic diseases remains unclear. OBJECTIVE: To examine the contribution of genetic variation of the chitotriosidase-encoding gene CHIT1 to atopic phenotypes in a Korean cohort of children. METHODS: We identified CHIT1 variations in a Korean population and conducted association analyses using 295 atopic and 242 nonatopic children. An independent replication study was performed using DNA samples from 148 atopic and 243 nonatopic children. All children were unrelated. We performed Western blot analysis in each genotype in vitro to see whether the CHIT1 A442G variation affects the final protein expression levels. RESULTS: In the case-control association analysis, atopy was significantly associated with a single A442G (rs1065761) polymorphism in CHIT1 (odds ratio = 1.32, P = .01). Children with the c.442G risk allele had significantly higher blood eosinophils (P = .001), total serum IgE (P = .007), and eosinophil cationic protein (P = .02) levels. The results of the replication stage analysis confirmed a significant association between the A442G polymorphism and childhood atopy. The joint analysis of the exploratory and replication studies displayed a stronger significant association. The relative protein expression levels of chitotriosidase were significantly higher in both cell lysate and media with the G transfection compared with the wild type. CONCLUSION: These results indicate that the nonsynonymous A442G polymorphism in CHIT1 is associated with risk of atopy.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
5. Research Institutes (연구소) > Research Center for Human Natural Defense System (생체방어연구센터) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
김경원(Kim, Kyung Won) ORCID logo https://orcid.org/0000-0003-4529-6135
김규언(Kim, Kyu Earn)
김미나(Kim, Mina) ORCID logo https://orcid.org/0000-0002-1675-0688
박준희(Park, Joonhee)
손명현(Sohn, Myung Hyun) ORCID logo https://orcid.org/0000-0002-2478-487X
이경은(Lee, Kyung Eun)
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
이지현(Lee, Ji Hyun)
이희선(Lee, Hee Seon)
허원일(Heo, Won Il)
홍정연(Hong, Jung Yeon) ORCID logo https://orcid.org/0000-0003-0406-9956
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