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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 1(4),345-349;2008
Original Article
Asthma and Pulmonary Function Abnormalities in Heterozygotes for Cystic Fibrosis
Transmembrane Regulator Gene Mutations
Konstantinos Douros, Ioanna Loukou, Stavros Doudounakis, Maria Tzetis, Kostas N. Priftis, and Emmanuel Kanavakis
Third Department of Pediatrics, Athens University Medical School, University General Hospital “Attikon”, Athens, Greece; Cystic Fibrosis
Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece; Medical Genetics, Athens University, “Aghia Sophia” Children’s Hospital
Athens, Greece; Allergology-Pulmonology Department, Penteli Children’s Hospital, Athens, Greece
Received September 18, 2008; accepted, October 23, 2008; available online October 27, 2008
Abstract: Our study aimed to evaluate the association between CFTR gene mutations with asthma and pulmonary function
abnormalities. For this purpose, 214 mutation carriers were compared to 185 non-carriers. Although the relative risk of asthma did not
differ between groups (OR=0.61, 95% CI: 0.23-1.61, p=0.32), the values of FEV1, and FEV1/FVC ratio were lower in carriers (p=0.001,
and p<0.001, respectively). This may imply that heterozygosity may be related with a silent obstructive pulmonary profile.
(IJCEM809002).
Key Words: Asthma, cystic fibrosis transmembrane regulator gene mutations, cystic fibrosis heterozygosity
Full Text PDF
Address all correspondence to: Konstantinos Douros, MD, PhD, 3rd Dpt of Pediatrics, “Attikon” Hospital, 1 Rimini Str, Chaidari 12464,
Greece, Tel: +30 210 5832233, FAX: +30 210 5832229, E-mail: costasdouros@gmail.com
Original Article
Asthma and Pulmonary Function Abnormalities in Heterozygotes for Cystic Fibrosis
Transmembrane Regulator Gene Mutations
Konstantinos Douros, Ioanna Loukou, Stavros Doudounakis, Maria Tzetis, Kostas N. Priftis, and Emmanuel Kanavakis
Third Department of Pediatrics, Athens University Medical School, University General Hospital “Attikon”, Athens, Greece; Cystic Fibrosis
Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece; Medical Genetics, Athens University, “Aghia Sophia” Children’s Hospital
Athens, Greece; Allergology-Pulmonology Department, Penteli Children’s Hospital, Athens, Greece
Received September 18, 2008; accepted, October 23, 2008; available online October 27, 2008
Abstract: Our study aimed to evaluate the association between CFTR gene mutations with asthma and pulmonary function
abnormalities. For this purpose, 214 mutation carriers were compared to 185 non-carriers. Although the relative risk of asthma did not
differ between groups (OR=0.61, 95% CI: 0.23-1.61, p=0.32), the values of FEV1, and FEV1/FVC ratio were lower in carriers (p=0.001,
and p<0.001, respectively). This may imply that heterozygosity may be related with a silent obstructive pulmonary profile.
(IJCEM809002).
Key Words: Asthma, cystic fibrosis transmembrane regulator gene mutations, cystic fibrosis heterozygosity
Full Text PDF
Address all correspondence to: Konstantinos Douros, MD, PhD, 3rd Dpt of Pediatrics, “Attikon” Hospital, 1 Rimini Str, Chaidari 12464,
Greece, Tel: +30 210 5832233, FAX: +30 210 5832229, E-mail: costasdouros@gmail.com
