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Genetic Epidemiology Of Severe, Early-onset Chronic Obstructive Pulmonary Disease. Risk To Relatives For Airflow Obstruction And Chronic Bronchitis.

E. Silverman, H. Chapman, J. Drazen, S. Weiss, B. Rosner, E. Campbell, W. O'donnell, J. Reilly, L. Ginns, S. Mentzer, J. Wain, F. Speizer
Published 1998 · Medicine
Referenced 1 time by Citationsy Users

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Severe alpha-1-antitrypsin deficiency is the only proven genetic risk factor for chronic obstructive pulmonary disease (COPD). We have assembled a cohort of 44 probands with severe, early-onset COPD, who do not have severe alpha-1-antitrypsin deficiency. A surprisingly high prevalence of females (79.6%) was found. Assessment of the risk to relatives of these early-onset COPD probands for airflow obstruction and chronic bronchitis was performed to determine whether significant familial aggregation for COPD, independent of alpha-1-antitrypsin deficiency, could be demonstrated. First- degree relatives of early-onset COPD probands had significantly lower FEV1 and FEV1/FVC values than control subjects (p < 0.01), despite similar pack-years of smoking. Reduced spirometric values in first-degree relatives of early-onset COPD probands were found only in current or ex-cigarette smokers. The mean FEV1 in current or ex-smoking first-degree relatives was 76.1 +/- 20.9% predicted compared to 89.2 +/- 14.4% predicted in current or ex-smoking control subjects (p < 0.01); in lifelong nonsmokers, the mean FEV1 was 93.4% predicted for both control subjects and first-degree relatives of early-onset COPD probands. Generalized estimating equations, adjusting for age and pack-years of smoking, demonstrated increased odds of reduced FEV1 and chronic bronchitis in current or ex-smoking first-degree relatives of early-onset COPD probands. Using a new method to estimate relative risk from relative odds, we estimate that the relative risks for FEV1 below 60%, FEV1 below 80%, and chronic bronchitis are each approximately three in current or ex-smoking first-degree relatives of early-onset COPD probands. The increased risk to relatives of early-onset COPD probands for reduced FEV1 and chronic bronchitis, limited to current or ex-smokers, suggests genetic risk factor(s) for COPD that are expressed in response to cigarette smoking.
This paper references
10.1093/OXFORDJOURNALS.AJE.A113912
Genetic and environmental determinants of level of pulmonary function.
F. I. Lewitter (1984)
10.1164/AJRCCM/143.3.649
Panlobular emphysema in young intravenous Ritalin abusers.
J. A. Schmidt (1991)
10.1093/OXFORDJOURNALS.AJE.A115197
Genotypic and phenotypic similarities in pulmonary function among family members of adult monozygotic and dizygotic twins.
S. Redline (1989)
10.1164/ARRD.1979.119.2.223
Pulmonary function in identical twins: comparison of nonsmokers and smokers.
P. M. Webster (1979)
10.1016/0009-8981(83)90009-8
The functional activity of α1-proteinase inhibitor in bronchoalveolar lavage fluids from healthy human smokers and non-smokers
C. Boudier (1983)
10.1164/AJRCCM/140.4.961
Alpha-1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening.
E. Silverman (1989)
10.1159/000153958
Variability of pulmonary function in alpha-1-antitrypsin deficiency: residual family resemblance beyond the effect of the Pi locus.
E. Silverman (1990)
10.1016/S0022-3476(79)80075-X
Ventilatory functions of normal children and young adults--Mexican-American, white, and black. I. Spirometry.
K. H. Hsu (1979)
10.1164/ARRD.1981.123.6.659
Reference spirometric values using techniques and equipment that meet ATS recommendations.
R. Crapo (1981)
10.1164/AJRCCM/140.3_PT_2.S9
Trends in COPD morbidity and mortality in the United States.
M. Feinleib (1989)
10.1164/ARRD.1979.119.3.357
Prognosis in severe chronic obstructive pulmonary disease.
D. S. Postma (1979)
10.1126/SCIENCE.8091226
Genetic dissection of complex traits.
J. Witte (1996)
10.1016/0002-9343(77)90270-4
Familial prevalence of chronic obstructive pulmonary disease in a matched pair study.
F. Kueppers (1977)
10.1016/S0025-7125(05)70451-X
Risk factors for the development of chronic obstructive pulmonary disease.
E. Silverman (1996)
10.1146/ANNUREV.PU.14.050193.000355
Regression analysis for correlated data.
K. Liang (1993)
10.1378/CHEST.102.3.824
Breathlessness in patients with severe chronic airflow limitation. Physiologic correlations.
D. O'Donnell (1992)
10.1016/0021-9681(75)90053-3
Familial occurrence of chronic respiratory disease and familial resemblance in ventilatory capacity.
M. Higgins (1975)
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
N. Risch (1990)
10.1111/J.0954-6820.1974.TB00975.X
Prognosis in severe chronic obstructive pulmonary disease.
T. Damsgaard (1974)
10.1164/ARRD.1976.114.3.485
Household aggregation of pulmonary function and chronic bronchitis.
I. Tager (1976)
10.7326/0003-4819-72-5-627
Genetic and environmental determinants of chronic obstructive pulmonary disease.
R. Larson (1970)
10.1093/OXFORDJOURNALS.AJE.A112378
Risk factors in chronic obstructive pulmonary disease (COPD).
B. Cohen (1977)
10.2307/2531248
Longitudinal data analysis for discrete and continuous outcomes.
S. Zeger (1986)
Improved identification of antitrypsin phenotypes through isoelectric focusing with dithioerythritol.
Pierce Ja (1979)
10.2214/AJR.162.2.8310909
Idiopathic giant bullous emphysema (vanishing lung syndrome): imaging findings in nine patients.
E J Stern (1994)
10.1164/AJRCCM/140.3_PT_2.S82
The epidemiology of cigarette smoking and its impact on chronic obstructive pulmonary disease.
R. M. Davis (1989)
10.1183/09031936.94.07040725
Factor analysis of exercise capacity, dyspnoea ratings and lung function in patients with severe COPD.
R. Wegner (1994)
10.1016/S0076-6879(77)46021-X
Reaction of serine proteases with aza-amino acid and aza-peptide derivatives.
J. Powers (1977)
10.1126/SCIENCE.275.5300.668
Identification of a Gene That Causes Primary Open Angle Glaucoma
E. Stone (1997)
10.1111/J.0954-6820.1978.TB08452.X
Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z.
C. Larsson (1978)
Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship.
J. Schildkraut (1989)
10.1164/ARRD.1985.131.4.511
Distribution of forced expiratory volume in one second and forced vital capacity in healthy, white, adult never-smokers in six U.S. cities.
D. Dockery (1985)
ADVANCE REPORT OF FINAL NATALITY STATISTIC, 1992
S. Ventura (1994)
10.1164/AJRCCM/142.5.1015
A family study of the variability of pulmonary function in alpha 1-antitrypsin deficiency. Quantitative phenotypes.
E. Silverman (1990)
10.1164/ARRD.1977.115.2.195
Quantitative relationships between cigarette smoking and ventilatory function.
B. Burrows (1977)
10.1002/GEPI.1370040306
Robust inference for variance components models in families ascertained through probands: II. Analysis of spirometric measures
T. H. Beaty (1987)
10.7326/0003-4819-111-12-982
Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.
E. Silverman (1989)
Quantum proteolysis resulting from release of single granules by human neutrophils: a novel, nonoxidative mechanism of extracellular proteolytic activity.
T. Liou (1996)
10.1126/SCIENCE.2270482
Linkage of early-onset familial breast cancer to chromosome 17q21.
J. M. Hall (1990)



This paper is referenced by
10.1002/0470868678.ch15
Systemic effects of chronic obstructive pulmonary disease.
A. Agustí (2005)
10.1016/S0084-3873(12)00219-2
Early-Onset Chronic Obstructive Pulmonary Disease Is Associated with Female Sex, Maternal Factors, and African American Race in the COPDGene Study
J. Maurer (2012)
10.1136/THX.2010.156075
Early administration of neuromuscular blockers may increase survival in ARDS
J. Biswas (2010)
10.1016/j.ccm.2013.10.008
Genetic susceptibility.
S. Marciniak (2014)
10.2147/COPD.S145908
Severe COPD cases from Korea, Poland, and USA have substantial differences in respiratory symptoms and other respiratory illnesses
W. J. Kim (2017)
10.1002/ajmg.a.33300
Pulmonary function and emphysema in Williams–Beuren syndrome
E. Wan (2010)
10.1007/978-3-662-47178-4_10
Phenotypes of COPD
Jamie S Sheth (2017)
10.1016/j.ijpharm.2015.06.033
In vitro biological activity of resveratrol using a novel inhalable resveratrol spray-dried formulation.
Valentina Trotta (2015)
10.1378/CHEST.07-1361
Prevalence of COPD in five Colombian cities situated at low, medium, and high altitude (PREPOCOL study).
A. Caballero (2008)
10.1590/S1806-37562015000000180
Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil
R. Russo (2016)
Lung Genetics, Genomics, and Gene Therapy*
D. Rodman (2017)
Exacerbations, health status and sibling pair comparisons in severe Alpha-1-Antitrypsin Deficiency.
M. Needham (2007)
10.1186/1465-9921-11-92
Genetic and environmental influence on lung function impairment in Swedish twins
J. Hallberg (2010)
Smoking patterns and lung function : A longitudinal twin study
M. Hukkinen (2011)
WHOLE EXOME SEQUENCING AND WHOLE GENOME SEQUENCING IN ASTHMA AND CHRONIC OBSTRUCTIVE PULMONARY DISEASE
Hiruni Rathnayake (2019)
10.12968/BJON.2001.10.13.845
Causes and effects of chronic obstructive pulmonary disease.
A. Jones (2001)
10.1165/RCMB.2005-0142OC
Concordance of genotypes in pre- and post-lung transplantation DNA samples.
D. DeMeo (2005)
10.3389/fgene.2019.00572
metaFARVAT: An Efficient Tool for Meta-Analysis of Family-Based, Case-Control, and Population-Based Rare Variant Association Studies
Longfei Wang (2019)
Phenotypic Consequences of β-Defensin Copy Number Variation in Humans
Razan Abujaber (2016)
10.2147/COPD.S203215
The etiologic origins for chronic obstructive pulmonary disease
Xinwei Huang (2019)
University of Groningen Genome-wide association studies identify CHRNA 5 / 3 and HTR 4 in the development of airflow obstruction
J. Wilk (2017)
10.1016/S0025-7753(08)75503-9
El cáncer de pulmón y la enfermedad pulmonar obstructiva crónica estrechan relaciones
J. Hernández (2008)
Safety aspect of β2-agonists in chronic obstructive pulmonary diesease
Christopher I Whale (2009)
Alterations in Respiratory Function: Disorders of Gas Exchange
(2003)
10.1093/hmg/ddx390
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression
I. Nedeljkovic (2018)
10.1165/rcmb.2009-0360OC
Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease.
M. Foreman (2011)
10.1111/j.1440-1843.2005.00626.x
Tumor necrosis factor‐α gene promoter polymorphism is not associated with smoking‐related COPD in Thailand
N. Chierakul (2005)
10.1182/BLOOD-2005-06-2338
Genetic variation in bactericidal/permeability-increasing protein influences the risk of developing rapid airflow decline after hematopoietic cell transplantation.
J. Chien (2006)
10.1164/RCCM.200503-319OC
A novel polymorphism in secretory phospholipase A2-IID is associated with body weight loss in chronic obstructive pulmonary disease.
N. Takabatake (2005)
10.1016/S0272-5231(05)70173-8
Genetic risk factors for chronic obstructive pulmonary disease
A. Sandford (1997)
10.14288/1.0166039
Multi-omics characterization of the molecular effects of smoking and chronic inflammation on the lung
E. Vucic (2014)
10.23866/BRNREV:2018-0018
Genetic Risk for Developing Chronic Obstructive Pulmonary Disease
Sara L. O'Beirne (2019)
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