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Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea

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 bilatera...

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Autores principales: Kim, Kyung Won, Lee, Ji Hyun, Lee, Min Goo, Kim, Kyung Hwan, Sohn, Myung Hyun, Kim, Kyu-Earn
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995957/
https://www.ncbi.nlm.nih.gov/pubmed/20879059
http://dx.doi.org/10.3349/ymj.2010.51.6.912
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author Kim, Kyung Won
Lee, Ji Hyun
Lee, Min Goo
Kim, Kyung Hwan
Sohn, Myung Hyun
Kim, Kyu-Earn
author_facet Kim, Kyung Won
Lee, Ji Hyun
Lee, Min Goo
Kim, Kyung Hwan
Sohn, Myung Hyun
Kim, Kyu-Earn
author_sort Kim, Kyung Won
collection PubMed
description 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.
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spelling pubmed-29959572010-12-07 Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea Kim, Kyung Won Lee, Ji Hyun Lee, Min Goo Kim, Kyung Hwan Sohn, Myung Hyun Kim, Kyu-Earn Yonsei Med J Original Article 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. Yonsei University College of Medicine 2010-11-01 2010-09-30 /pmc/articles/PMC2995957/ /pubmed/20879059 http://dx.doi.org/10.3349/ymj.2010.51.6.912 Text en © Copyright: Yonsei University College of Medicine 2010 http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Kim, Kyung Won
Lee, Ji Hyun
Lee, Min Goo
Kim, Kyung Hwan
Sohn, Myung Hyun
Kim, Kyu-Earn
Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
title Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
title_full Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
title_fullStr Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
title_full_unstemmed Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
title_short Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
title_sort association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in korea
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995957/
https://www.ncbi.nlm.nih.gov/pubmed/20879059
http://dx.doi.org/10.3349/ymj.2010.51.6.912
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