Document Type
Article
Journal Title
Journal of Cachexia, Sarcopenia and Muscle
Publication Date
2021
Volume
12
Abstract
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is the third leading cause of death globally. COPD patients with cachexia or weight loss have increased risk of death independent of body mass index (BMI) and lung function. We tested the hypothesis genetic variation is associated with weight loss in COPD using a genome-wide association study approach.
METHODS: Participants with COPD (N = 4308) from three studies (COPDGene, ECLIPSE, and SPIROMICS) were analysed. Discovery analyses were performed in COPDGene with replication in SPIROMICS and ECLIPSE. In COPDGene, weight loss was defined as self-reported unintentional weight loss > 5% in the past year or low BMI (BMI < 20 kg/m
RESULTS: At the single variant level, only the rs35368512 variant, intergenic to GRXCR1 and LINC02383, was associated with weight loss (odds ratio = 3.6, 95% confidence interval = 2.3-5.6, P = 3.2 × 10
CONCLUSIONS: The EFNA2 and BAIAP2 genes were significantly associated with weight loss in COPD participants. Collectively, the integrative network analyses indicated genetic variation associated with weight loss in COPD may influence skeletal muscle regeneration and tissue remodelling.
MeSH Headings
Adult, Bayes Theorem, Genetic Variation, Genome-Wide Association Study, Humans, Muscle, Skeletal, Nerve Tissue Proteins, Pulmonary Disease, Chronic Obstructive, Regeneration, Weight Loss
DOI Link
ISSN
2190-6009
Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License
Recommended Citation
Lakshman Kumar, Preeti; Wilson, Ava C.; Rocco, Alison; Cho, Michael H.; Wan, Emily; Hobbs, Brian D.; Washko, George R.; Ortega, Victor E.; Christenson, Stephanie A.; Li, Xingnan; Wells, J. Michael; Bhatt, Surya P.; DeMeo, Dawn L.; Lutz, Sharon M.; Rossiter, Harry; Casaburi, Richard; Rennard, Stephen I.; Lomas, David A.; Labaki, Wassim W.; Tal-Singer, Ruth; Bowler, Russel P.; Hersh, Craig P.; Tiwari, Hemant K.; Dransfield, Mark; Thalacker-Mercer, Anna; Meyers, Deborah A.; Silverman, Edwin K.; McDonald, Merry-Lynn N.; and COPDGene, ECLIPSE and SPIROMICS investigators, "Genetic Variation in Genes Regulating Skeletal Muscle Regeneration and Tissue Remodelling Associated with Weight Loss in Chronic Obstructive Pulmonary Disease" (2021). Journal Articles: Pulmonary & Critical Care Med. 23.
https://digitalcommons.unmc.edu/com_pulm_articles/23
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