Airway Wall Thickening and Emphysema Show Independent Familial Aggregation in Chronic Obstructive Pulmonary Disease

Patel, Bimal; Coxson, Harvey O.; Pillai, Sreekumar; Agustí, Àlvar; Calverley, Peter M.A.; Donner, Claudio F.; Make, Barry J.; Müller, Néstor L.; Rennard, Stephen I.; Vestbo, Jørgen; Wouters, Emiel F.M.; Hiorns, Melanie P.; Nakano, Yasutaka; Camp, Patricia; Fauerbach, Paola V. Nasute; Screaton, Nicholas; Campbell, Edward J.; Anderson, Wayne H.; Paré, Peter D.; Levy, Robert D.; Lake, Stephen; Silverman, Edwin K.; Lomas, David A.

doi:10.1164/rccm.200801-059oc

Cited by 282 publications

(274 citation statements)

References 29 publications

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“…These findings are in agreement with a study by Patel and colleagues [17] that found a significant relationship between pack/years smoked and emphysema in a large group of COPD patients.…”

Section: Discussionsupporting

confidence: 93%

Relationship between Lung Functions and Extend of Emphysema in Patients with Chronic Obstructive Pulmonary Disease

Sarıaydın¹,

Altıntaş²,

Ince³

2014

J Pulm Respir Med

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“…These findings are in agreement with a study by Patel and colleagues [17] that found a significant relationship between pack/years smoked and emphysema in a large group of COPD patients.…”

Section: Discussionsupporting

confidence: 93%

Relationship between Lung Functions and Extend of Emphysema in Patients with Chronic Obstructive Pulmonary Disease

Sarıaydın¹,

Altıntaş²,

Ince³

2014

J Pulm Respir Med

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“…PILLAI et al [15] examined features of asthma patients aged 7-35 yrs that could be useful in identifying important genetic and environmental contributors, and found that baseline pulmonary function, allergen sensitisation, self-reported allergies, symptoms of rhinitis and symptoms of asthma were important. Factors scored as quantitative traits appeared to be better phenotypes for epidemiological and genetic analyses than categories derived from the presence or absence of combinations of positive skin tests or elevated immunoglobulin E. PATEL et al [27] showed that computed tomography scan measures of airway wall thickness and emphysema independently contributed to airflow obstruction and had independent familial aggregations, suggesting that different inherited factors contribute to airway disease phenotypes. Thus, these studies, undertaken in groups of patients defined by lung function, symptoms or diagnostic labels, show that several distinct phenotypes may exist within the framework of these ''diagnostic labels''.…”

Section: Resultsmentioning

confidence: 99%

Patterns of airway disease and the clinical diagnosis of asthma in the Busselton population

Musk¹,

Knuiman²,

Hunter³

et al. 2011

European Respiratory Journal

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The aim of this study was to examine how objective measures related to lung function cluster in the general population and how the patterns relate to asthma and bronchitis as diagnosed by a doctor (DDA and DDB, respectively).A cross-sectional survey of an age-stratified random general population sample of 1,969 adults from the electoral register of Busselton (Australia) was performed in [2005][2006][2007]. Respiratory symptoms, DDA ever, DDB ever, recent wheezing and smoking history, together with anthropometric measurements, forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC), methacholine challenge or bronchodilator response, exhaled nitric oxide (eNO), skin-prick tests to common allergens, and blood eosinophil and neutrophil counts were studied. Cluster analysis (variables sex, age, atopy, FEV1 % predicted, FEV1/FVC, airway hyperresponsiveness, eNO, log eosinphil count, log neutrophil count and body mass index) was used to identify phenotypic patterns.Seven clusters (subjects with DDA and DDB, respectively) were identified: normal males (n5467; 7 and 13%), normal females (n5477; 12 and 18%), obese females (n5250; 16 and 28%), atopic younger adults (n5330; 21 and 17%), atopic adults with high eNO (n5130; 30 and 25%), atopic males with reduced FEV1 (n5103; 33 and 32%) and atopic adults with bronchial hyperreactivity (n5212; 40 and 26%).The clinical diagnosis of asthma (ever) and bronchitis (ever) is not specific for any of the clustering patterns of airway abnormality.

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“…Our study also did not directly assess for rare genetic variation, which may be an important contributor to COPD susceptibility (57), nor did we assess for copy number variation. Finally, we did not attempt to address issues of COPD heterogeneity, for example, through radiographic phenotypes (58).…”

Section: Discussionmentioning

confidence: 99%

“…Details of the ICGN cohort used for replication have been previously described (13,58). Association analysis in ICGN was performed using PBAT 3.61 (76) using one-sided P-values for the same risk allele, adjusting for age and pack-years of smoking in the COPD affection status analysis, and age, pack-years, sex and height in the analysis of FEV 1 .…”

Section: Methodsmentioning

confidence: 99%

A Genome-Wide Association Study In COPD Identifies A Susceptibility Locus On Chromosome 19q13

Cho

Castaldi

Hersh

et al. 2011

A95. Cutting Edge Insights to the Pathobiology of Copd and Interstitial Lung Disease

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The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genomewide significant locus on chromosome 19q13 (rs7937, OR 5 0.74, P 5 2.9 3 10 29 ). Genotyping this single * Molecular Genetics, 2012, Vol. 21, No. 4 947-957 doi:10.1093/hmg/ddr524 Advance Access published on November 11, 2011nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P 5 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV 1 (P 5 0.08 and 0.04) and severe (GOLD 3&4) COPD (P 5 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior.

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Airway Wall Thickening and Emphysema Show Independent Familial Aggregation in Chronic Obstructive Pulmonary Disease

Abstract: Airway wall thickening and emphysema make independent contributions to airflow obstruction in COPD. These phenotypes show independent aggregation within families of individuals with COPD, suggesting that different genetic factors influence these disease processes.

Cited by 282 publications

References 29 publications

Relationship between Lung Functions and Extend of Emphysema in Patients with Chronic Obstructive Pulmonary Disease

Relationship between Lung Functions and Extend of Emphysema in Patients with Chronic Obstructive Pulmonary Disease

Patterns of airway disease and the clinical diagnosis of asthma in the Busselton population

A Genome-Wide Association Study In COPD Identifies A Susceptibility Locus On Chromosome 19q13

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