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Michael Hyosang Cho, MD, MPH
Associate Physician, Brigham and Women's Hospital
Associate Professor of Medicine, Harvard Medical School

Brigham and Women's Hospital
Department of Medicine
Channing Division of Network Medicine
75 Francis Street
Boston, MA 02115

Research Location: Mass College of Pharmacy Sciences

Research Email:

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Research Narrative:

COPD is one of the few major causes of death with an increasing mortality, and recently rose to become the third-ranked cause of death in the U.S.  Smoking is the major risk factor for COPD, but susceptibility to cigarette smoking is highly variable.  A substantial amount of this variability is due to genetic factors.  My work focuses on elucidating these genetic risk factors and understanding the heterogeneity of COPD.  For common variants, I have led genome-wide association studies, identifying susceptibility variants on chromosome 4 (FAM13A) and 19 (RAB4B/CYP2A6) and identified variants related to related phenotypes, identifying BICD1 variants associated with emphysema, MMP12  variants associated with asthma and COPD (via time-to-onset).  I also have an interest novel phenotypes of COPD; we have performed an exploratory analyses using machine learning to find subtypes of emphysema and associate them with candidate gene variants.  In rare variants, I led work to analyze the elastin gene, identifying a second family with COPD harboring a previously demonstrated a functional mutation; and demonstrated a lack of association between folliculin and severe COPD.  More recently, I have taken advantage of dramatic technological improvements in DNA sequencing to comprehensively evaluate a genome-wide locus near the HHIP gene; identify coding variants in 13 genes in 1000 subjects; and analyze the human exome in 400 subjects.  My rare variant work will continue in two family-based cohorts with severe COPD using exome sequencing, as well in alpha-1 antitrypsin deficiency, analyzing exome variants contributing to lung function variability.

Harvard School of Public Health, 2008, MPH
Mount Sinai Medical School of New York, 2000, MD
Princeton University, 1995, BSE

Publications (Pulled from Harvard Catalyst Profiles):

1. Putman RK, Gudmundsson G, Axelsson GT, Hida T, Honda O, Araki T, Yanagawa M, Nishino M, Miller ER, Eiriksdottir G, Gudmundsson EF, Tomiyama N, Honda H, Rosas IO, Washko GR, Cho MH, Schwartz DA, Gudnason V, Hatabu H, Hunninghake GM. Imaging Patterns Are Associated with Interstitial Lung Abnormality Progression and Mortality. Am J Respir Crit Care Med. 2019 Jul 15; 200(2):175-183.

2. Halu A, Liu S, Baek SH, Hobbs BD, Hunninghake GM, Cho MH, Silverman EK, Sharma A. Exploring the cross-phenotype network region of disease modules reveals concordant and discordant pathways between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis. Hum Mol Genet. 2019 Jul 15; 28(14):2352-2364.

3. Sakornsakolpat P, McCormack M, Bakke P, Gulsvik A, Make BJ, Crapo JD, Cho MH, Silverman EK. Genome-Wide Association Analysis of Single-Breath DlCO. Am J Respir Cell Mol Biol. 2019 May; 60(5):523-531.

4. Zhu Z, Wang X, Li X, Lin Y, Shen S, Liu CL, Hobbs BD, Hasegawa K, Liang L, Boezen HM, Camargo CA, Cho MH, Christiani DC. Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. Respir Res. 2019 Apr 02; 20(1):64.

5. Boueiz A, Pham B, Chase R, Lamb A, Lee S, Naing ZZC, Cho MH, Parker MM, Sakornsakolpat P, Hersh CP, Crapo JD, Stergachis AB, Tal-Singer R, DeMeo DL, Silverman EK, Zhou X, Castaldi PJ. Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution. Am J Respir Cell Mol Biol. 2019 Apr; 60(4):388-398.

6. Sakornsakolpat P, Prokopenko D, Lamontagne M, Reeve NF, Guyatt AL, Jackson VE, Shrine N, Qiao D, Bartz TM, Kim DK, Lee MK, Latourelle JC, Li X, Morrow JD, Obeidat M, Wyss AB, Bakke P, Barr RG, Beaty TH, Belinsky SA, Brusselle GG, Crapo JD, de Jong K, DeMeo DL, Fingerlin TE, Gharib SA, Gulsvik A, Hall IP, Hokanson JE, Kim WJ, Lomas DA, London SJ, Meyers DA, O'Connor GT, Rennard SI, Schwartz DA, Sliwinski P, Sparrow D, Strachan DP, Tal-Singer R, Tesfaigzi Y, Vestbo J, Vonk JM, Yim JJ, Zhou X, Bossé Y, Manichaikul A, Lahousse L, Silverman EK, Boezen HM, Wain LV, Tobin MD, Hobbs BD, Cho MH. Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. Nat Genet. 2019 03; 51(3):494-505.

7. Parker MM, Lutz SM, Hobbs BD, Busch R, McDonald MN, Castaldi PJ, Beaty TH, Hokanson JE, Silverman EK, Cho MH. Assessing pleiotropy and mediation in genetic loci associated with chronic obstructive pulmonary disease. Genet Epidemiol. 2019 04; 43(3):318-329.

8. Castaldi PJ, Guo F, Qiao D, Du F, Naing ZZC, Li Y, Pham B, Mikkelsen TS, Cho MH, Silverman EK, Zhou X. Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays. Am J Respir Crit Care Med. 2019 Jan 01; 199(1):52-61.

9. Prokopenko D, Sakornsakolpat P, Fier HL, Qiao D, Parker MM, McDonald MN, Manichaikul A, Rich SS, Barr RG, Williams CJ, Brantly ML, Lange C, Beaty TH, Crapo JD, Silverman EK, Cho MH. Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease. Am J Respir Cell Mol Biol. 2018 11; 59(5):614-622.

10. Qiao D, Ameli A, Prokopenko D, Chen H, Kho AT, Parker MM, Morrow J, Hobbs BD, Liu Y, Beaty TH, Crapo JD, Barnes KC, Nickerson DA, Bamshad M, Hersh CP, Lomas DA, Agusti A, Make BJ, Calverley PMA, Donner CF, Wouters EF, Vestbo J, Paré PD, Levy RD, Rennard SI, Tal-Singer R, Spitz MR, Sharma A, Ruczinski I, Lange C, Silverman EK, Cho MH. Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet. 2018 11 01; 27(21):3801-3812.