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Association of genetic variation in chitotriosidase with atopy in Korean children

Authors
 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 
Citation
 ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, Vol.110(6) : 444-449, 2013 
Journal Title
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
ISSN
 1081-1206 
Issue Date
2013
MeSH
Alleles ; Asian Continental Ancestry Group/genetics* ; Case-Control Studies ; Child ; Eosinophil Cationic Protein/blood ; Eosinophils ; Female ; Gene Order ; Genetic Predisposition to Disease* ; Genotype ; Hexosaminidases/genetics* ; Hexosaminidases/metabolism ; Humans ; Hypersensitivity, Immediate/genetics* ; Hypersensitivity, Immediate/immunology* ; Hypersensitivity, Immediate/metabolism ; Immunoglobulin E/blood ; Immunoglobulin E/immunology ; Leukocyte Count ; Linkage Disequilibrium ; Male ; Polymorphism, Genetic* ; Polymorphism, Single Nucleotide ; Republic of Korea
Keywords
Alleles ; Asian Continental Ancestry Group/genetics* ; Case-Control Studies ; Child ; Eosinophil Cationic Protein/blood ; Eosinophils ; Female ; Gene Order ; Genetic Predisposition to Disease* ; Genotype ; Hexosaminidases/genetics* ; Hexosaminidases/metabolism ; Humans ; Hypersensitivity, Immediate/genetics* ; Hypersensitivity, Immediate/immunology* ; Hypersensitivity, Immediate/metabolism ; Immunoglobulin E/blood ; Immunoglobulin E/immunology ; Leukocyte Count ; Linkage Disequilibrium ; Male ; Polymorphism, Genetic* ; Polymorphism, Single Nucleotide ; Republic of Korea
Abstract
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.
Full Text
http://www.sciencedirect.com/science/article/pii/S1081120613002044
DOI
10.1016/j.anai.2013.03.009
Appears in Collections:
1. College of Medicine (의과대학) > Research Institute (부설연구소) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 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
Kim, Kyung Won(김경원) ORCID logo https://orcid.org/0000-0003-4529-6135
Kim, Kyu Earn(김규언)
Kim, Mina(김미나) ORCID logo https://orcid.org/0000-0002-1675-0688
Park, Joonhee(박준희)
Sohn, Myung Hyun(손명현) ORCID logo https://orcid.org/0000-0002-2478-487X
Lee, Kyung Eun(이경은)
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Ji Hyun(이지현)
Lee, Hee Seon(이희선)
Heo, Won Il(허원일)
Hong, Jung Yeon(홍정연) ORCID logo https://orcid.org/0000-0003-0406-9956
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87225
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