Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea.
10.3349/ymj.2010.51.6.912
- Author:
Kyung Won KIM
1
;
Ji Hyun LEE
;
Min Goo LEE
;
Kyung Hwan KIM
;
Myung Hyun SOHN
;
Kyu Earn KIM
Author Information
1. Department of Pediatrics and Institute of Allergy, Brain Korea 21 Project for Medical Science, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea. mhsohn@yuhs.ac
- Publication Type:Original Article ; Historical Article ; Research Support, Non-U.S. Gov't
- Keywords:
Cystic fibrosis transmembrane conductance regulator;
asthma;
children
- MeSH:
Adolescent;
Asthma/*epidemiology/*genetics;
Case-Control Studies;
Child;
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics;
Female;
*Genetic Predisposition to Disease;
Genotype;
Haplotypes;
History, Ancient;
Humans;
Male;
*Mutation;
Republic of Korea
- From:Yonsei Medical Journal
2010;51(6):912-917
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic conditions, such as chronic pancreatitis or congenital bilateral absence of the vas deferens. However, respiratory disease is considered typical for the multi system disorder, cystic fibrosis, and is the major cause of morbidity and mortality. The purpose of this study was to evaluate the potential effects of CFTR gene mutations in Korean children with asthma. MATERIALS AND METHODS: We selected 14 mutations identified in Korea and each of the 48 children with and without asthma were genotyped for the case-control study. RESULTS: No significant differences were found in genotype and allele frequencies of the 9 polymorphisms observed between the non-asthma and asthma groups. In a haplotype determination based on a Bayesian algorithm, 8 haplotypes were assembled in the 98 individuals tested. However, we also did not find any significant differences in haplotype frequencies between the non-asthma and asthma groups. CONCLUSION: We have concluded that this study did not show any evidence in support of providing that CFTR genetic variations significantly contribute to the susceptibility of asthma in Korean children.
