Genome-Wide Association Analysis of Single Breath Diffusing Capacity of Carbon Monoxide (DLCO).

Genome-Wide Association Analysis of Single Breath Diffusing Capacity of Carbon Monoxide (DLCO). Am J Respir Cell Mol Biol. 2019 Jan 29;: Authors: Sakornsakolpat P, McCormack M, Bakke P, Gulsvik A, Make BJ, Crapo JD, Cho MH, Silverman EK Abstract Diffusing capacity of carbon monoxide (DLCO) is a widely used pulmonary function test in clinical practice and a particularly useful measure in assessing patients with COPD. We hypothesized that elucidating genetic determinants of DLCO could lead to better understanding of the genetic architecture of COPD. We estimated the heritability of DLCO using common genetic variants and performed genome-wide association analyses in four cohorts enriched for COPD subjects (COPDGene, NETT, GenKOLS and TESRA) using a combined European-ancestry white (EA) dataset and a COPDGene African American (AA) dataset. We assessed our genome-wide significant and suggestive associations for DLCO in previously reported GWAS of COPD and related traits. We also characterized associations of known COPD-associated variants and DLCO. We estimated the single nucleotide polymorphism (SNP)-based heritability of DLCO in EA population to be 22% (P=0.0004). We identified three genome-wide significant associations with DLCO: variants near TGFB2, CHRNA3, and PDE11A loci (P
Source: Am J Respir Cell Mol... - Category: Respiratory Medicine Authors: Tags: Am J Respir Cell Mol Biol Source Type: research

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Source: JAIDS Journal of Acquired Immune Deficiency Syndromes - Category: Infectious Diseases Tags: Translational Research Source Type: research
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Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Monitoring airway disease Source Type: research
Abstract BACKGROUND: Diffusing capacity of the lung for carbon monoxide (DLCO) is inconsistently obtained in patients with chronic obstructive pulmonary disease (COPD) and the added benefit of DLCO testing beyond more common tools is unknown. OBJECTIVE: To determine whether lower DLCO is associated with increased COPD morbidity independent of spirometry and CT emphysema. METHODS: Data for 1806 COPD participants from the COPDGene 5-year visit were analyzed, including pulmonary function testing, quality of life, symptoms, exercise performance, and exacerbation rates. DLCO % predicted was primarily analyzed...
Source: Chest - Category: Respiratory Medicine Authors: Tags: Chest Source Type: research
We describe a 66‐year‐old man with severe chronic obstructive pulmonary disease (COPD) who faile d assessments for BLVR because of the inability to perform the carbon monoxide diffusion test but subsequently had EBV deployed to his right upper lobe bronchi for persistent air leak complicating a spontaneous pneumothorax. Afterwards, there was subjective improvement in breathlessness, exercise ca pacity, and reduced frequency of exacerbations requiring hospitalization. Lung function parameters showed marked improvement. This case suggests that patients with compatible spirometric lung volume and computed tomography findi...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
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Source: Journal of Palliative Care - Category: Palliative Care Tags: J Palliat Care Source Type: research
Purpose of review Chronic obstructive pulmonary disease (COPD) is a well established risk factor for lung cancer. Newer studies reveal a myriad of other mechanisms, some proven and some putative, which may contribute to their association. Recent findings There is an ever-growing bundle of evidence that suggests a close association between persistent chronic inflammation and lung cancer. A few potential targets of genetic susceptibility locus for COPD and lung cancer have been suggested. Better characterization of immune dysregulation and identification of signaling pathways may assist the development of strategies to ...
Source: Current Opinion in Pulmonary Medicine - Category: Respiratory Medicine Tags: OBSTRUCTIVE, OCCUPATIONAL AND ENVIRONMENTAL DISEASES: Edited by Manish Joshi and Basil Varkey Source Type: research
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Source: Chronic Respiratory Disease - Category: Respiratory Medicine Authors: Tags: Chron Respir Dis Source Type: research
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Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: COPD and smoking, Pulmonary vascular disease Original Articles: COPD and hypoxia Source Type: research
Conclusions In this proof-of-concept demonstration, we evaluated CT and MRI lung emphysema measurements and observed significantly worse MRI biomarkers of emphysema in patients with AATD compared to patients with COPD, although CT RA950 and diffusing capacity of carbon monoxide were not significantly different, underscoring the sensitivity of MRI measurements of AATD emphysema.
Source: Academic Radiology - Category: Radiology Source Type: research
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that is associated with a higher risk of chronic obstructive pulmonary disease (COPD) and emphysema. The annual declines in lung function (FEV1) and transfer factor of the lung for carbon monoxide (TLCO) predict all-cause mortality.
Source: Respiratory Medicine - Category: Respiratory Medicine Authors: Source Type: research
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