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ß2-adrenergic receptor polymorphisms, asthma and COPD: two large population-based studies.

https://arctichealth.org/en/permalink/ahliterature129736
Source
Eur Respir J. 2012 Mar;39(3):558-66
Publication Type
Article
Date
Mar-2012
Author
M. Thomsen
B G Nordestgaard
A A Sethi
A. Tybjærg-Hansen
M. Dahl
Author Affiliation
Dept of Clinical Biochemistry, Herlev Hospital, Herlev, Denmark.
Source
Eur Respir J. 2012 Mar;39(3):558-66
Date
Mar-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Asthma - epidemiology - genetics
Denmark - epidemiology
Female
Gene Frequency
Humans
Incidence
Lung - physiopathology
Male
Middle Aged
Polymorphism, Genetic
Prevalence
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Receptors, Adrenergic, beta-2 - genetics
Young Adult
Abstract
The ß(2)-adrenergic receptor (ADRB2) is an important regulator of airway smooth muscle tone. We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg and Gln27Glu) are associated with reduced lung function, asthma or chronic obstructive pulmonary disease (COPD). We first genotyped 8,971 individuals from the Copenhagen City Heart Study for all three polymorphisms. To validate our findings, we genotyped an additional 53,777 individuals from the Copenhagen General Population Study for the Thr164Ile polymorphism. We identified 60,910 Thr164Ile noncarriers, 1,822 heterozygotes and 16 homozygotes. In the Copenhagen City Heart Study, the Thr164Ile genotype was associated with reduced forced expiratory volume in 1 s (FEV(1)) % predicted (trend p = 0.01) and FEV(1)/forced vital capacity (FVC) (p = 0.001): Thr164Ile heterozygotes had 3% and 2% reduced FEV(1) % pred and FEV(1)/FVC, respectively, compared with noncarriers. The odds ratio for COPD in Thr164Ile heterozygotes was 1.46 (95% CI 1.05-2.02). In the Copenhagen General Population Study, the Thr164 genotype associated with reduced FEV(1) % pred (p = 0.04) and FEV(1)/FVC (p
PubMed ID
22075484 View in PubMed
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Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study.

https://arctichealth.org/en/permalink/ahliterature15007
Source
Respir Res. 2005;6(1):113
Publication Type
Article
Date
2005
Author
Morten Dahl
Anne Tybjaerg-Hansen
Peter Lange
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev University Hospital, DK-2730 Herlev, Denmark. dahlos2003@yahoo.dk
Source
Respir Res. 2005;6(1):113
Date
2005
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Asthma - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Denmark - epidemiology
Female
Genetic Predisposition to Disease - epidemiology - genetics
Genetic Screening - methods
Genetics, Population
Heterozygote
Humans
Incidence
Introns - genetics
Male
Middle Aged
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Research Support, Non-U.S. Gov't
Risk Assessment - methods
Risk factors
Women
Abstract
BACKGROUND: Carriers of cystic fibrosis intron-8 5T alleles with high exon-9 skipping could have increased annual lung function decline and increased risk for asthma or chronic obstructive pulmonary disease (COPD). METHODS: We genotyped 9131 individuals from the adult Danish population for cystic fibrosis 5T, 7T, 9T, and F508del alleles, and examined associations between 11 different genotype combinations, and annual FEV1 decline and risk of asthma or COPD. RESULTS: 5T heterozygotes vs. 7T homozygous controls had no increase in annual FEV1 decline, self-reported asthma, spirometry-defined COPD, or incidence of hospitalization from asthma or COPD. In 5T/7T heterozygotes vs. 7T homozygous controls we had 90% power to detect an increase in FEV1 decline of 8 ml, an odds ratio for self-reported asthma and spirometry-defined COPD of 1.9 and 1.7, and a hazard ratio for asthma and COPD hospitalization of 1.8 and 1.6, respectively. Both 5T homozygotes identified in the study showed evidence of asthma, while none of four 5T/F508del compound heterozygotes had severe pulmonary disease. 7T/9T individuals had annual decline in FEV1 of 19 ml compared with 21 ml in 7T homozygous controls (t-test: P = 0.03). 6.7% of 7T homozygotes without an F508del allele in the cystic fibrosis transmembrane conductance regulator gene reported asthma vs. 11% of 7T/9T individuals with an F508del allele (chi2: P = 0.01) and 40% of 7T homozygotes with an F508del allele (P = 0.04). 7T homozygotes with vs. without an F508del allele also had higher incidence of asthma hospitalization (log-rank: P = 0.003); unadjusted and adjusted equivalent hazard ratios for asthma hospitalization were 11 (95%CI: 1.5-78) and 6.3 (0.84-47) in 7T homozygotes with vs. without an F508del allele. CONCLUSION: Polythymidine 5T heterozygosity is not associated with pulmonary dysfunction or disease in the adult Caucasian population. Furthermore, our results support that F508del heterozygosity is associated with increased asthma risk independently of the 5T allele.
PubMed ID
16212675 View in PubMed
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Candidate genes for COPD in two large data sets.

https://arctichealth.org/en/permalink/ahliterature142737
Source
Eur Respir J. 2011 Feb;37(2):255-63
Publication Type
Article
Date
Feb-2011
Author
P S Bakke
G. Zhu
A. Gulsvik
X. Kong
A G N Agusti
P M A Calverley
C F Donner
R D Levy
B J Make
P D Paré
S I Rennard
J. Vestbo
E F M Wouters
W. Anderson
D A Lomas
E K Silverman
S G Pillai
Author Affiliation
Dept of Thoracic Medicine, Haukeland University Hospital, Bergen, Norway. per.bakke@med.uib.no
Source
Eur Respir J. 2011 Feb;37(2):255-63
Date
Feb-2011
Language
English
Publication Type
Article
Keywords
Aged
Case-Control Studies
Female
Genetic Association Studies
Genetic Predisposition to Disease - epidemiology - genetics
Humans
Male
Middle Aged
Norway - epidemiology
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Respiratory Function Tests - statistics & numerical data
STAT1 Transcription Factor - genetics
Sirtuin 2 - genetics
Smoking - epidemiology
Vitamin D-Binding Protein - genetics
Abstract
Lack of reproducibility of findings has been a criticism of genetic association studies on complex diseases, such as chronic obstructive pulmonary disease (COPD). We selected 257 polymorphisms of 16 genes with reported or potential relationships to COPD and genotyped these variants in a case-control study that included 953 COPD cases and 956 control subjects. We explored the association of these polymorphisms to three COPD phenotypes: a COPD binary phenotype and two quantitative traits (post-bronchodilator forced expiratory volume in 1 s (FEV1) % predicted and FEV1/forced vital capacity (FVC)). The polymorphisms significantly associated to these phenotypes in this first study were tested in a second, family-based study that included 635 pedigrees with 1,910 individuals. Significant associations to the binary COPD phenotype in both populations were seen for STAT1 (rs13010343) and NFKBIB/SIRT2 (rs2241704) (p
PubMed ID
20562129 View in PubMed
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Familial risks for chronic obstructive pulmonary disease among siblings based on hospitalisations in Sweden.

https://arctichealth.org/en/permalink/ahliterature93304
Source
J Epidemiol Community Health. 2008 May;62(5):398-401
Publication Type
Article
Date
May-2008
Author
Hemminki K.
Li X.
Sundquist K.
Sundquist J.
Author Affiliation
Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany. k.hemminki@dkfz.de
Source
J Epidemiol Community Health. 2008 May;62(5):398-401
Date
May-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
Female
Genetic Predisposition to Disease
Hospitalization - statistics & numerical data
Humans
Infant
Infant, Newborn
Male
Middle Aged
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Pulmonary Emphysema - epidemiology - genetics
Risk factors
Siblings
Spouses
Sweden - epidemiology
alpha 1-Antitrypsin Deficiency - epidemiology - genetics
Abstract
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a progressive disabling condition, for which tobacco smoking, environmental pollution, inherited alpha-antitrypsin deficiency and their interactions are predisposing factors. We carried out a family study on COPD in order to address the role of heritable and environmental risk factors at a population level. METHODS: In a nationwide study on familial risks for COPD the Multigeneration Register on 0-72-year-old subjects was linked to the Hospital Discharge Register from years 1987 to 2004. Standardised incidence ratios (SIRs) were calculated for affected singleton siblings, twins and spouses by comparing them with those whose siblings or spouses had no hospitalisation for COPD. RESULTS: More than 14 300 hospitalised cases and 604 affected siblings were identified. The familial SIR for obstructive chronic bronchitis was 4.65, which was higher for those diagnosed at young age but independent of sex or the age differences between the siblings. When both siblings were diagnosed with obstructive chronic bronchitis or emphysema the SIRs were 4.45 and 14.22, respectively. The SIR for obstructive chronic bronchitis in 24 twin pairs was 11.87. The SIR for spouses was about 1.6. CONCLUSIONS: The much higher risk for siblings of patients with COPD than the risk for spouses suggests that heritable effects underlie familial susceptibility to this disease. For the rare familial emphysema, alpha-antitrypsin deficiency may be an important cause. To what extent it also contributes to familial obstructive chronic bronchitis remains to be established. The anticipated gene-environment interactions with sufficient sample size need to be accommodated in future aetiological studies on COPD.
PubMed ID
18413451 View in PubMed
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Familial transmission of chronic obstructive pulmonary disease in adoptees: a Swedish nationwide family study.

https://arctichealth.org/en/permalink/ahliterature268911
Source
BMJ Open. 2015;5(4):e007310
Publication Type
Article
Date
2015
Author
Bengt Zöller
Xinjun Li
Jan Sundquist
Kristina Sundquist
Source
BMJ Open. 2015;5(4):e007310
Date
2015
Language
English
Publication Type
Article
Keywords
Adoption
Cohort Studies
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Incidence
Male
Middle Aged
Parents
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Registries
Risk factors
Social Environment
Sweden - epidemiology
Abstract
Familial clustering of chronic obstructive pulmonary disease (COPD) is well established, but the familial risk of COPD has not been determined among adoptees. The aim was to determine whether the familial transmission of COPD is related to disease in biological and/or adoptive parents.
Historic cohort study.
80,214 (50% females).
The Swedish Multi-Generation Register was used to follow all Swedish-born adoptees born in 1932-2004 (n=80,214) between 1 January 1964 and 31 December 2010 for COPD (n=1978). The risk of COPD was estimated in adoptees with at least one biological parent with COPD but no adoptive parent with COPD (n=162) compared with adoptees without a biological or adoptive parent with COPD. The risk of COPD was also determined in adoptees with at least one adoptive parent but no biological parent with COPD (n=110), and in adoptees with both affected biological and adoptive parents (n=162).
COPD in adoptees.
Adoptees with COPD in at least one biological parent but no adoptive parent were more likely to have COPD than adoptees without a biological or adoptive parent with COPD (standardised incidence ratio, SIR=1.98 (95% CI 1.69 to 2.31)). The familial SIR for adoptees with both a biological parent and an adoptive parent with COPD was 1.68 (95% CI 1.39 to 2.00). Adoptees with at least one adoptive parent with COPD but no biological parent with COPD were not at an increased risk of COPD (SIR=1.12 (95% CI 0.92 to 1.35)).
The findings of the study show that the familial transmission of COPD is associated with COPD in biological but not adoptive parents, suggesting that genetic or early life factors are important in the familial transmission of COPD.
Notes
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PubMed ID
25869691 View in PubMed
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Genetics of chronic obstructive pulmonary disease: a case-control study in Bergen, Norway.

https://arctichealth.org/en/permalink/ahliterature154954
Source
Clin Respir J. 2008 Oct;2 Suppl 1:129-31
Publication Type
Article
Date
Oct-2008
Author
I-C Sørheim
A. Gulsvik
Author Affiliation
Department of Thoracic Medicine, Institute of Medicine, University of Bergen, Bergen, Norway. inga.cecilie.soerheim@helse-bergen.no
Source
Clin Respir J. 2008 Oct;2 Suppl 1:129-31
Date
Oct-2008
Language
English
Publication Type
Article
Keywords
Asthenia - epidemiology - genetics
Case-Control Studies
Genetic Predisposition to Disease - epidemiology
Humans
Norway - epidemiology
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Registries - statistics & numerical data
Risk factors
Abstract
Chronic obstructive pulmonary disease (COPD) is a complex disease influenced by multiple genetic and environmental factors. This short communication gives a description of the preliminary genetic results from a case-control study in Bergen, Norway.
A large case-control study in Bergen in 2003-2005 with 6365 invited subjects generated 1954 cases or controls. The overall attendance of invited subjects was 60%, but causes of non-attendance varied considerably among different sources of recruitment.
In this case-control study, the candidate gene SERPINE2 on chromosome 2q has demonstrated significant association to COPD. However, only weak or lacking associations have so far been observed for the other candidate genes examined.
These findings provide support for SERPINE2 as a COPD susceptibility gene in the Norwegian population.
PubMed ID
20298363 View in PubMed
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Short telomere length, lung function and chronic obstructive pulmonary disease in 46,396 individuals.

https://arctichealth.org/en/permalink/ahliterature117806
Source
Thorax. 2013 May;68(5):429-35
Publication Type
Article
Date
May-2013
Author
Line Rode
Stig E Bojesen
Maren Weischer
Jørgen Vestbo
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry and the Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Source
Thorax. 2013 May;68(5):429-35
Date
May-2013
Language
English
Publication Type
Article
Keywords
Adult
Aged
DNA - analysis
Denmark - epidemiology
Female
Forced Expiratory Volume - genetics
Humans
Male
Middle Aged
Polymerase Chain Reaction
Prevalence
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics - physiopathology
Retrospective Studies
Telomere
Vital Capacity - genetics
Abstract
A previous case-control study of 100 individuals found that short telomere length was associated with a 28-fold increased risk of chronic obstructive pulmonary disease (COPD).
To test the hypothesis that short telomere length is associated with reduced lung function and an increased risk of COPD.
Observational study of 46 396 individuals from the Danish general population.
Leucocyte telomere length and spirometry were measured. COPD was defined using either fixed forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) ratio
PubMed ID
23268483 View in PubMed
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7 records – page 1 of 1.