• Dr. McDonald is the Director of Integrative 'Omics and an Associate Professor of Medicine in the UAB Division of Pulmonary, Allergy, and Critical Care Medicine. She is a genetic epidemiologist with interests in the analysis of complex traits and diseases including COPD, cachexia, sarcopenia, osteoarthritis and smoking behaviors such as menthol. Her lab is involved with some of the most cutting-edge studies including the Million Veterans Program (MVP) and the Trans-Omics for Precision Medicine (TOPMed) Initiative. For more information see (https://sites.uab.edu/mcdonaldlab/). To browse education and job opportunities see (https://sites.uab.edu/mcdonaldlab/join-our-team/).
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2022 Comparative transcriptomics in human COPD reveals dysregulated genes uniquely expressed in ferretsRespiratory Research.  23. 2022
    2022 Integrated bioinformatics analysis identifies established and novel TGFβ1-regulated genes modulated by anti-fibrotic drugsScientific Reports.  12. 2022
    2022 Novel genetic loci associated with osteoarthritis in multi-ancestry analyses in the Million Veteran Program and UK BiobankNature Genetics.  54:1816-1826. 2022
    2022 Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed programCell Genomics.  2. 2022
    2022 The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry PopulationsFrontiers in Endocrinology.  13. 2022
    2022 Longitudinal Association Between Muscle Loss and Mortality in Ever SmokersChest.  161:960-970. 2022
    2022 Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence dataNature Genetics.  54:263-273. 2022
    2022 Genetic European Ancestry and Incident Diabetes in Black Individuals: Insights from the SPRINT TrialCirculation.  15:E003468. 2022
    2022 Clinically Significant and Comorbid Anxiety and Depression Symptoms Predict Severe Respiratory Exacerbations in Smokers: A Post Hoc Analysis of the COPDGene and SPIROMICS CohortsAnnals of the American Thoracic Society.  19:143-146. 2022
    2022 Inventing the wheel: Understanding heterogeneity of response to skeletal muscle dysfunction interventions in women with COPDThorax2022
    2021 Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium 2021
    2021 Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary diseaseJournal of Cachexia, Sarcopenia and Muscle.  12:1803-1817. 2021
    2021 Mucus plugging on computed tomography and chronic bronchitis in chronic obstructive pulmonary diseaseRespiratory Research.  22. 2021
    2021 Emphysema Progression and Lung Function Decline Among Angiotensin Converting Enzyme Inhibitors and Angiotensin-Receptor Blockade Users in the COPDGene CohortChest.  160:1245-1254. 2021
    2021 The Association Between Lung Hyperinflation and Coronary Artery Disease in SmokersChest.  160:858-871. 2021
    2021 Pulmonary Arterial Pruning and Longitudinal Change in Percent Emphysema and Lung Function: The Genetic Epidemiology of COPD StudyChest.  160:470-480. 2021
    2021 Respiratory exacerbations are associated with muscle loss in current and former smokersThorax.  76:554-560. 2021
    2021 The role of snp interactions when determining independence of novel signals in genetic association studies—an application to arg1 and bronchodilator responseJournal of Personalized Medicine.  11:1-6. 2021
    2021 A novel locus for exertional dyspnoea in childhood asthmaEuropean Respiratory Journal.  57. 2021
    2020 Lung-Specific Risk Factors Associated With Incident Hip Fracture in Current and Former SmokersJournal of Bone and Mineral Research.  35:1952-1961. 2020
    2020 Deep neural network analyses of spirometry for structural phenotyping of chronic obstructive pulmonary diseaseJCI Insight.  5. 2020
    2020 Rehabilitative Impact of Exercise Training on Human Skeletal Muscle Transcriptional Programs in Parkinson’s DiseaseFrontiers in Physiology.  11. 2020
    2020 Heme metabolism genes Downregulated in COPD CachexiaRespiratory Research.  21. 2020
    2020 Diffuse Idiopathic Skeletal Hyperostosis in Smokers and Restrictive Spirometry Pattern: An Analysis of the COPDGene CohortJournal of Rheumatology.  47:531-538. 2020
    2020 Skeletal muscle transcriptional networks linked to type I myofiber grouping in Parkinson's diseaseJournal of Applied Physiology.  128:229-240. 2020
    2019 Serum amino acid concentrations and clinical outcomes in smokers: SPIROMICS metabolomics studyScientific Reports.  9. 2019
    2019 It's more than low BMI: Prevalence of cachexia and associated mortality in COPDRespiratory Research.  20. 2019
    2019 Assessing pleiotropy and mediation in genetic loci associated with chronic obstructive pulmonary diseaseGenetic Epidemiology.  43:318-329. 2019
    2019 COPDGene® 2019: Redefining the diagnosis of chronic obstructive pulmonary diseaseChronic obstructive pulmonary diseases (Miami, Fla.).  6:384-399. 2019
    2018 Whole-genome sequencing in severe chronic obstructive pulmonary diseaseAmerican Journal of Respiratory Cell and Molecular Biology.  59:614-622. 2018
    2018 Genetic variants predicting aerobic capacity response to training are also associated with skeletal muscle oxidative capacity in moderate-to-severe COPDPhysiological Genomics.  50:688-690. 2018
    2018 Pectoralis muscle area and mortality in smokers without airflow obstructionRespiratory Research.  19. 2018
    2018 Common and rare variants genetic association analysis of cigarettes per day among ever-smokers in chronic obstructive pulmonary disease cases and controlsNicotine and Tobacco Research.  21:714-722. 2018
    2018 Lung, fat and bone: Increased adiponectin associates with the combination of smoking-related lung disease and osteoporosisChronic obstructive pulmonary diseases (Miami, Fla.).  5:134-143. 2018
    2017 Chest computed tomography-derived low fat-free mass index and mortality in COPDEuropean Respiratory Journal.  50. 2017
    2017 Handgrip strength in chronic obstructive pulmonary disease associations with acute exacerbations and body compositionAnnals of the American Thoracic Society.  14:1638-1645. 2017
    2017 Multiomics approach to asthma: Navigating the networkAmerican Journal of Respiratory Cell and Molecular Biology.  57:381-382. 2017
    2017 Body mass index change in gastrointestinal cancer and chronic obstructive pulmonary disease is associated with Dedicator of Cytokinesis 1Journal of Cachexia, Sarcopenia and Muscle.  8:428-436. 2017
    2017 Sex-based genetic association study identifies celsr1 as a possible chronic obstructive pulmonary disease risk locus among womenAmerican Journal of Respiratory Cell and Molecular Biology.  56:332-341. 2017
    2017 Obesity Is Associated With Increased Morbidity in Moderate to Severe COPDChest.  151:68-77. 2017
    2017 Susceptibility to childhood pneumonia: A genome-wide analysisAmerican Journal of Respiratory Cell and Molecular Biology.  56:20-28. 2017
    2016 Clinical, physiologic, and radiographic factors contributing to development of hypoxemia in moderate to severe COPD: A cohort studyBMC Pulmonary Medicine.  16. 2016
    2016 A genome-wide analysis of the response to inhaled β 2-agonists in chronic obstructive pulmonary disease 2016
    2016 Sarcopenic Obesity, Functional Outcomes, and Systemic Inflammation in Patients With Chronic Obstructive Pulmonary Disease 2016
    2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestryBMC Genomic Data.  16. 2015
    2015 Continuous fat-free mass decline in COPD: Fact or fiction?European Respiratory Journal.  46:1496-1498. 2015
    2015 Reduced bone density and vertebral fractures in smokers. Men and COPD patients at increased riskAnnals of the American Thoracic Society.  12:648-656. 2015
    2015 IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary diseaseAmerican Journal of Respiratory Cell and Molecular Biology.  52:365-376. 2015
    2014 Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary diseaseAmerican Journal of Respiratory Cell and Molecular Biology.  51:678-687. 2014
    2014 Chest CT Measures of Muscle and Adipose Tissue in COPD: Gender-based Differences in Content and in Relationships with Blood BiomarkersAcademic Radiology.  21:1255-1261. 2014
    2014 Phenotypic and genetic heterogeneity among subjects with mild airflow obstruction in COPDGeneRespiratory Medicine.  108:1469-1480. 2014
    2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary diseaseRespiratory Research.  15. 2014
    2014 DNAH5 is associated with total lung capacity in chronic obstructive pulmonary diseaseRespiratory Research.  15. 2014
    2014 Genome-wide association identifies regulatory loci associated with distinct local histogram emphysema patternsAmerican Journal of Respiratory and Critical Care Medicine.  190:399-409. 2014
    2014 The clinical and genetic features of COPD-asthma overlap syndromeEuropean Respiratory Journal.  44:341-350. 2014
    2014 A comparative analysis of family-based and population-based association tests using whole genome sequence dataBMC Proceedings.  8. 2014
    2014 Beyond GWAS in COPD: Probing the landscape between gene-set associations, genome-wide associations and protein-protein interaction networks 2014
    2014 Quantitative computed tomography measures of pectoralis muscle area and disease severity in chronic obstructive pulmonary disease: A cross-sectional studyAnnals of the American Thoracic Society.  11:326-334. 2014
    2014 Risk loci for chronic obstructive pulmonary disease: A genome-wide association study and meta-analysis 2014
    2012 The chicken frizzle feather is due to an α-Keratin (KRT75) mutation that causes a defective rachisPLoS Genetics.  8. 2012
    2012 Genetic association of cyclic AMP signaling genes with bipolar disorder.Translational Psychiatry.  2. 2012
    2011 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1Nature Genetics.  43:996-1002. 2011
    2011 Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissectionsPLoS Genetics.  7. 2011
    2009 Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3Journal of Human Genetics.  54:141-144. 2009
    2008 Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44 [4] 2008
    2008 Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani familiesJournal of Human Genetics.  53:101-105. 2008
    2005 Reduced endothelial secretion and plasma levels of transforming growth factor-β1 in patients with hereditary hemorrhagic telangiectasia type 1Cardioscience.  68:155-164. 2005
    2001 Potential role of modifier genes influencing transforming growth factor-β1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasiaAmerican Journal of Pathology.  158:2011-2020. 2001

    Research Overview

  • Dr. McDonald’s research is focused on Network Medicine Approaches to Cachexia in COPD. Her research program is currently funded by the National Institutes of Health (K99/R00) and the Parker B. Francis Foundation. Dr. McDonald is an active member of the American Thoracic Society, the American Society of Human Genetics and the Society on Sarcopenia, Cachexia and Wasting Disorders. For more information see (https://sites.uab.edu/mcdonaldlab/). To browse education and job opportunities see (https://sites.uab.edu/mcdonaldlab/join-our-team/).
  • Teaching Overview

  • Dr. McDonald is passionate about teaching and training. The use of genomics to help us understand human disease is a fascinating topic. She is currently accepting applications from students and post-docs.
  • Education And Training

  • Baylor College of Medicine, Other
  • Brigham and Women's Hospital Channing Division of Network Medicine, Postdoctoral Research
  • Doctor of Philosophy in Molecular Biophysics, Baylor College of Medicine 2011
  • Master of Science in Epidemiology, University of Saskatchewan 2006
  • Bachelor of Science or Mathematics in Biochemistry, University of Waterloo 2001
  • Full Name

  • Merry-Lynn McDonald