Genetic Variants Predicting Aerobic Capacity Response to Training Are Also Associated with Skeletal Muscle Oxidative Capacity in Moderate-to-Severe COPD
Open accessAbstract
Muscle oxidative capacity is a major determinant of maximum oxygen uptake (V̇O 2max). V̇O 2max predicts survival in humans. Muscle oxidative capacity is low in chronic obstructive pulmonary disease (COPD) and can be assessed from the muscle oxygen consumption recovery rate constant ( k) by near-infrared spectroscopy. We hypothesized that 11 SNPs, previously associated with the increase in V̇O 2max following exercise training, would correlate with k in 152 non-Hispanic White and African American smokers with and without COPD. Associations were adjusted for age, weight, FEV 1% predicted, steps/day, and principal components of genetic ancestry. No SNPs were significantly associated with k. rs2792022 within BTAF1 (β = 0.130, P = 0.053) and rs24575771 within SLC22A3 (β = 0.106, P = 0.058) approached nominal significance. Case-control stratification identified three SNPs nominally associated with k in moderate-to-severe COPD ( rs6481619 within SVIL β = 0.152, P = 0.013; BTAF1 β = 0.196, P = 0.046; rs7386139 within DEPTOR β = 0.159, P = 0.047). These data support further study of the genomic contributions to skeletal muscle dysfunction in COPD.
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An SNP in SLC22A3 was close to being significantly associated with muscle aerobic capacity response.
“Of note, the study of Adami and colleagues identified an SNP in the same gene, that was close to be significantly associated with muscle aerobic capacity response [140].”
From Main Pathogenic Mechanisms and Recent Advances in COPD Peripheral Skeletal Muscle Wasting (2023) · cites this paper as [140]
The Results report that rs24575771 within SLC22A3 approached nominal significance (P = 0.058) for association with muscle oxidative capacity, measured by the recovery rate constant k. The study did not test response to training; the Abstract says the candidate SNPs had previously been associated with changes in aerobic capacity following training. (LLM, conf=0.87)
Experimental — accuracy not yet measuredAdami and colleagues investigated the association between the same SNPs and the muscle oxygen consumption recovery rate constant (k), assessed with near infrared spectroscopy, reflecting skeletal muscle oxidative capacity; no significant association was evidenced in COPD patients, but three SNPs were associated with k specifically in moderate-to-severe COPD patients.
“Later, Adami and colleagues investigated the association between the same SNPs and the muscle oxygen consumption recovery rate constant (k), assessed with near infrared spectroscopy, which reflects skeletal muscle oxidative capacity. Although no significant association was evidenced in COPD patients, three SNPs were associated with k specifically in moderate-to-severe COPD patients [140].”
From Main Pathogenic Mechanisms and Recent Advances in COPD Peripheral Skeletal Muscle Wasting (2023) · cites this paper as [140]
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Cites
Timmons, J. A., Knudsen, S., Rankinen, T., Koch, L. G., Sarzynski, M., Jensen, T., Keller, P., Scheele, C., Vollaard, N. B. J., Nielsen, S., et al. (2010) · Journal of Applied Physiology · doi:10.1152/japplphysiol.01295.2009 · Cited by 358 · see citing works
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Research works printed but not linked: 4
- [1]Adami A, Cao R, Porszasz J, Casaburi R, Rossiter HB Reproducibility of NIRS assessment of muscle oxidative capacity in smokers with and without COPD. Respir Physiol Neurobiol 235: 18– 26, 2017. doi: 10.1016/j.resp.2016.09.008. 27659351 PMC5136338 · DOI
- [2]Bouchard C, Rankinen T, Chagnon YC, Rice T, Pérusse L, Gagnon J, Borecki I, An P, Leon AS, Skinner JS, Wilmore JH, Province M, Rao DC Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study. J Appl Physiol (1985) 88: 551– 559, 2000. doi: 10.1152/jappl.2000.88.2.551. 10658022 · DOI
- [3]Hamilton MT, Booth FW Skeletal muscle adaptation to exercise: a century of progress. J Appl Physiol (1985) 88: 327– 331, 2000. doi: 10.1152/jappl.2000.88.1.327. 10642397 · DOI
- [4]Regan EA, Hokanson JE, Murphy JR, Make B, Lynch DA, Beaty TH, Curran-Everett D, Silverman EK, Crapo JD Genetic epidemiology of COPD (COPDGene) study design. COPD 7: 32– 43, 2010. doi: 10.3109/15412550903499522. 20214461 PMC2924193 · DOI · Paper page
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Main Pathogenic Mechanisms and Recent Advances in COPD Peripheral Skeletal Muscle Wasting
Henrot, P., Dupin, I., Schilfarth, P., Esteves, P., Blervaque, L., Zysman, M., Gouzi, F., Hayot, M., Pomiès, P., & Berger, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24076454 · Cited by 85 · see citing works
“Of note, the study of Adami and colleagues identified an SNP in the same gene, that was close to be significantly associated with muscle aerobic capacity response [140].”
Result
- Authors
- Adami, A., Hobbs, B. D., McDonald, M.-L. N., Casaburi, R., Rossiter, H. B., & for the COPDGene Investigators
- Affiliations
- University of California, Los Angeles (US)
- Brigham and Women's Hospital (US)
- University of Alabama at Birmingham (US)
- University of Leeds (GB)
- Corresponding author
- Rossiter, Harry B.
- Venue
- Physiological Genomics
- Publisher
- American Physiological Society
- Published
- 2018-09-01
- Volume
- 50
- Issue
- 9
- Pages
- 688-690
- ISSN
- 1094-8341 (ISSN-L)
- 1531-2267
- PMC
- PMC6172613
- OpenAlex
- W2805938802
- Cited by
- 8
- References
- 1
- Citations by year
- 2023: 1 · 2022: 1 · 2021: 1 · 2020: 3 · 2018: 1 · 2017: 1
- FWCI
- 0.76
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Physiological Genomics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Journal of Media Literacy Education (submittedVersion, cc-by)
- Funders
- NIH National Heart Lung and Blood Institute (HL089856, HL089897, K08 HL136928, R00HL121087)
- HHS | NIH | National Center for Advancing Translational Sciences (NCATS) (UL1TR000124)
- Swiss National Science Foundation (Schweizerische Nationalfonds) (P300P3_151705, P300PB_167767)
- American Thoracic Society Foundation / Breath LA (ATS-2014-03)
- Parker B. Francis Research Opportunity Award
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Chronic Obstructive Pulmonary Disease (COPD) Research
- Health Sciences › Medicine › Complementary and alternative medicine › Cardiovascular and exercise physiology
- Keywords
- chronic obstructive pulmonary disease, skeletal muscle oxidative capacity, single nucleotide polymorphisms, VO2max, smokers, SLC22A3, DEPTOR, genetic ancestry, skeletal muscle dysfunction
- MeSH terms
- Aged, Aged, 80 and over, Humans, Middle Aged, Oxidation-Reduction, Phenotype, Genetic Variation, Exercise, Muscle, Skeletal, Polymorphism, Single Nucleotide, Pulmonary Disease, Chronic Obstructive
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