Michael H. Cho

ORCID: 0000-0002-4907-1657
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
Research Areas
  • Chronic Obstructive Pulmonary Disease (COPD) Research
  • Asthma and respiratory diseases
  • Genetic Associations and Epidemiology
  • Pediatric health and respiratory diseases
  • Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • Neonatal Respiratory Health Research
  • Genetic Mapping and Diversity in Plants and Animals
  • Pulmonary Hypertension Research and Treatments
  • Genomics and Rare Diseases
  • Bioinformatics and Genomic Networks
  • Respiratory Support and Mechanisms
  • Cancer-related molecular mechanisms research
  • Acute Myeloid Leukemia Research
  • Gene expression and cancer classification
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics
  • Delphi Technique in Research
  • Genetic and phenotypic traits in livestock
  • Respiratory and Cough-Related Research
  • Lung Cancer Diagnosis and Treatment
  • IL-33, ST2, and ILC Pathways
  • Respiratory viral infections research
  • Smoking Behavior and Cessation

Brigham and Women's Hospital
2016-2025

Harvard University
2016-2025

Pulmonary and Critical Care Associates
2013-2024

Beth Israel Deaconess Medical Center
2021-2024

Framingham Heart Study
2012-2024

Massachusetts General Hospital
2006-2024

Boston Children's Hospital
2024

Boston Medical Center
2024

University of Illinois Chicago
2024

Cornell University
2024

Daniel Taliun Daniel Harris Michael D. Kessler Jedidiah Carlson Zachary A. Szpiech and 95 more Raúl Torres Sarah A. Gagliano Taliun André Corvelo Stephanie M. Gogarten Hyun Min Kang Achilleas Pitsillides Jonathon LeFaive Seung‐been Lee Xiaowen Tian Brian L. Browning Sayantan Das Anne‐Katrin Emde Wayne E. Clarke Douglas P. Loesch Amol C. Shetty Thomas W. Blackwell Albert V. Smith Quenna Wong Xiaoming Liu Matthew P. Conomos Dean Bobo François Aguet Christine M. Albert Álvaro Alonso Kristin Ardlie Dan E. Arking Stella Aslibekyan Paul L. Auer John Barnard R. Graham Barr Lucas Barwick Lewis C. Becker Rebecca Beer Emelia J. Benjamin Lawrence F. Bielak John Blangero Michael Boehnke Donald W. Bowden Jennifer A. Brody Esteban G. Burchard Brian E. Cade James F. Casella Brandon Chalazan Daniel I. Chasman Yii‐Der Ida Chen Michael H. Cho Seung Hoan Choi Mina K. Chung Clary B. Clish Adolfo Correa Joanne E. Curran Brian Custer Dawood Darbar Michelle Daya Mariza de Andrade Dawn L. DeMeo Susan K. Dutcher Patrick T. Ellinor Leslie Emery Celeste Eng Diane Fatkin Tasha E. Fingerlin Lukas Forer Myriam Fornage Nora Franceschini Christian Fuchsberger Stephanie M. Fullerton Søren Germer Mark T. Gladwin Daniel J. Gottlieb Xiuqing Guo Michael E. Hall Jiang He Nancy L. Heard‐Costa Susan R. Heckbert Marguerite R. Irvin Jill M. Johnsen Andrew D. Johnson Robert C. Kaplan Sharon L. R. Kardia Tanika N. Kelly Shannon Kelly Eimear E. Kenny Douglas P. Kiel Robert Klemmer Barbara A. Konkle Charles Kooperberg Anna Köttgen Leslie A. Lange Jessica Lasky‐Su Daniel Levy Xihong Lin Keng‐Han Lin Chunyu Liu Ruth J. F. Loos

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood sleep disorders, with ultimate goal improving diagnosis, treatment prevention these diseases. initial phases focused on whole-genome sequencing individuals rich phenotypic data diverse backgrounds. Here we describe TOPMed goals design as well available resources early insights obtained from sequence data. include a variant browser, genotype...

10.1038/s41586-021-03205-y article EN cc-by Nature 2021-02-10
Alexander G. Bick Joshua S. Weinstock Satish K. Nandakumar Charles P. Fulco Erik L. Bao and 95 more Seyedeh M. Zekavat Mindy D Szeto Xiaotian Liao Matthew Leventhal Joseph Nasser Kyle Chang Cecelia Laurie Bala Bharathi Burugula Christopher J. Gibson Abhishek Niroula Amy Lin Margaret A. Taub François Aguet Kristin Ardlie Braxton D. Mitchell Kathleen C. Barnes Arden Moscati Myriam Fornage Susan Redline Bruce M. Psaty Edwin K. Silverman Scott T. Weiss Nicholette D. Palmer Ramachandran S. Vasan Esteban G. Burchard Sharon L. R. Kardia Jiang He Robert C. Kaplan Nicholas L. Smith Donna K. Arnett David A. Schwartz Adolfo Correa Mariza de Andrade Xiuqing Guo Barbara A. Konkle Brian Custer Juan M. Peralta Hongsheng Gui Deborah A. Meyers Stephen T. McGarvey Ida Yii-Der Chen M. Benjamin Shoemaker Patricia A. Peyser Jai Broome Stephanie M. Gogarten Fei Fei Wang Quenna Wong May E. Montasser Michelle Daya Eimear E. Kenny Kari E. North Lenore J. Launer Brian E. Cade Joshua C. Bis Michael H. Cho Jessica Lasky‐Su Donald W. Bowden L. Adrienne Cupples Angel C. Y. Mak Lewis C. Becker Jennifer A. Smith Tanika N. Kelly Stella Aslibekyan Susan R. Heckbert Hemant K. Tiwari Ivana V. Yang John A. Heit Steven A. Lubitz Jill M. Johnsen Joanne E. Curran Sally E. Wenzel Daniel E. Weeks D. C. Rao Dawood Darbar Jee‐Young Moon Russell P. Tracy Erin Buth Nicholas Rafaels Ruth J. F. Loos Peter Durda Yongmei Liu Lifang Hou Jiwon Lee Priyadarshini Kachroo Barry I. Freedman Daniel Levy Lawrence F. Bielak James E. Hixson James S. Floyd Eric A. Whitsel Patrick T. Ellinor Marguerite R. Irvin Tasha E. Fingerlin Laura M. Raffield Sebastian M. Armasu

10.1038/s41586-020-2819-2 article EN Nature 2020-10-14

<h3>Importance</h3> Interstitial lung abnormalities have been associated with lower 6-minute walk distance, diffusion capacity for carbon monoxide, and total capacity. However, to our knowledge, an association mortality has not previously investigated. <h3>Objective</h3> To investigate whether interstitial are increased mortality. <h3>Design, Setting, Population</h3> Prospective cohort studies of 2633 participants from the FHS (Framingham Heart Study; computed tomographic [CT] scans obtained...

10.1001/jama.2016.0518 article EN JAMA 2016-02-16

Genetic variants influencing lung function in children and adults may ultimately lead to the development of chronic obstructive pulmonary disease (COPD), particularly high-risk groups.We tested for an association between single-nucleotide polymorphisms (SNPs) gene encoding matrix metalloproteinase 12 (MMP12) a measure (prebronchodilator forced expiratory volume 1 second [FEV(1)]) more than 8300 subjects seven cohorts that included adults. Within Normative Aging Study (NAS), cohort initially...

10.1056/nejmoa0904006 article EN New England Journal of Medicine 2009-12-17
Phuwanat Sakornsakolpat Dmitry Prokopenko Maxime Lamontagne Nicola Reeve Anna L. Guyatt and 95 more Victoria E. Jackson Nick Shrine Dandi Qiao Traci M. Bartz Deog Kyeom Kim Mi Kyeong Lee Jeanne C. Latourelle Xingnan Li Jarrett D. Morrow Ma’en Obeidat Annah B. Wyss Per Bakke R. Graham Barr Terri H. Beaty Steven A. Belinsky Guy Brusselle James D. Crapo Kim de Jong Dawn L. DeMeo Tasha E. Fingerlin Sina A. Gharib Amund Gulsvik Ian P. Hall John E. Hokanson Woo Jin Kim David A. Lomas Stephanie J. London Deborah A. Meyers George O'connor Stephen I. Rennard David A. Schwartz Paweł Śliwiński David Sparrow David P. Strachan Ruth Tal‐Singer Yohannes Tesfaigzi Jørgen Vestbo Judith M. Vonk Jae‐Joon Yim Xiaobo Zhou Yohan Bossé Ani Manichaikul Lies Lahousse Edwin K. Silverman H. Marike Boezen Louise V. Wain Martin D. Tobin Brian D. Hobbs Michael H. Cho Nick Shrine Anna L. Guyatt Chiara Batini Jing Hua Zhao Matthias Wielscher Stefan Weiß Katherine A. Kentistou James P. Cook Jennie Hui Stefan Karrasch Medea Imboden Sarah E. Harris Jonathan Marten Stefan Enroth Shona M. Kerr Ida Surakka Véronique Vitart Terho Lehtimäki Ralf Ewert Christian Gieger Georg Homuth Peter K. Joshi Claudia Langenberg Lars Lind Jian’an Luan Anubha Mahajan Alison D. Murray David J. Porteous Rajesh Rawal Blair H. Smith Paul R. H. J. Timmers Olli Raitakari Mika Kähönen Ozren Polašek Ulf Gyllensten Igor Rudan Ian J. Deary Nicole Probst‐Hensch Holger Schulz Anthony James James F. Wilson Beate Stubbe Eleftheria Zeggini Marjo‐Riitta Järvelin Nicholas J. Wareham Caroline Hayward

10.1038/s41588-018-0342-2 article EN Nature Genetics 2019-02-25
Gretchen Saunders Xingyan Wang Fang Chen Seon-Kyeong Jang Mengzhen Liu and 95 more Chen Wang Shuang Gao Yu Jiang Chachrit Khunsriraksakul Jacqueline M. Otto Clifton Addison Masato Akiyama Christine M. Albert Fazil Alıev Álvaro Alonso Donna K. Arnett Allison E. Ashley‐Koch Aneel A. Ashrani Kathleen C. Barnes R. Graham Barr Traci M. Bartz Diane M. Becker Lawrence F. Bielak Emelia J. Benjamin Joshua C. Bis Gyða Björnsdóttir John Blangero Eugene R. Bleecker Jason D. Boardman Eric Boerwinkle Dorret I. Boomsma Meher P. Boorgula Donald W. Bowden Jennifer A. Brody Brian E. Cade Daniel I. Chasman Sameer Chavan Yii‐Der Ida Chen Zhengming Chen Iona Cheng Michael H. Cho Hélène Choquet John W. Cole Marilyn C. Cornelis Francesco Cucca Joanne E. Curran Mariza de Andrade Danielle M. Dick Anna R. Docherty Ravindranath Duggirala Charles B. Eaton Marissa A. Ehringer Tõnu Esko Jessica D. Faul Lilian Fernandes Silva Edoardo Fiorillo Myriam Fornage Barry I. Freedman Maiken E. Gabrielsen Melanie E. Garrett Sina A. Gharib Christian Gieger Nathan A. Gillespie David C. Glahn Scott D. Gordon C. Charles Gu Dongfeng Gu Daníel F. Guðbjartsson Xiuqing Guo Jeffrey Haessler Michael E. Hall Toomas Haller Kathleen Mullan Harris Jiang He Pamela Herd John K. Hewitt Ian B. Hickie Bertha Hidalgo John E. Hokanson Christian J. Hopfer Jouke‐Jan Hottenga Lifang Hou Hongyan Huang Yi‐Jen Hung David J. Hunter Kristian Hveem Shih‐Jen Hwang Chii‐Min Hwu William G. Iacono Marguerite R. Irvin Yon Ho Jee Eric O. Johnson Yoonjung Yoonie Joo Eric Jorgenson Anne E. Justice Yoichiro Kamatani Robert C. Kaplan Jaakko Kaprio Sharon L. R. Kardia Matthew C. Keller

Tobacco and alcohol use are heritable behaviours associated with 15% 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease injury1-4. These substances used across the globe, yet genome-wide association studies have focused on individuals European ancestries5. Here we leveraged global genetic diversity 3.4 million from four major clines ancestry (approximately 21% non-European) power discovery fine-mapping genomic loci tobacco use, inform function these via...

10.1038/s41586-022-05477-4 article EN cc-by Nature 2022-12-07
Louise V. Wain Nick Shrine María Soler Artigas A. Mesut Erzurumluoglu Boris Noyvert and 95 more Lara Bossini‐Castillo Ma’en Obeidat Amanda P. Henry Michael A. Portelli Robert J. Hall Charlotte K. Billington Tracy L. Rimington Anthony G. Fenech Catherine John Tineka Blake Victoria E. Jackson Richard J. Allen Bram P. Prins Archie Campbell David J. Porteous Marjo‐Riitta Järvelin Matthias Wielscher Anthony James Jennie Hui Nicholas J. Wareham Wei Zhao James F. Wilson Peter K. Joshi Beate Stubbe Rajesh Rawal Holger Schulz Medea Imboden Nicole Probst‐Hensch Stefan Karrasch Christian Gieger Ian J. Deary Sarah E. Harris Jonathan Marten Igor Rudan Stefan Enroth Ulf Gyllensten Shona M. Kerr Ozren Polašek Mika Kähönen Ida Surakka Véronique Vitart Caroline Hayward Terho Lehtimäki Olli T. Raitakari David M. Evans Alex Henderson Craig E. Pennell Carol A. Wang Peter D. Sly Emily S. Wan Robert Busch Brian D. Hobbs Augusto A. Litonjua David Sparrow Amund Gulsvik Per Bakke James D. Crapo Terri H. Beaty Nadia N. Hansel Rasika A. Mathias Ingo Ruczinski Kathleen C. Barnes Yohan Bossé Philippe Joubert Maarten van den Berge Corry‐Anke Brandsma Peter D. Paré Don D. Sin David C. Nickle Ke Hao Omri Gottesman Frederick E. Dewey Shannon Bruse David J. Carey H. Lester Kirchner Stefan Jonsson Guðmar Þorleifsson Ingileif Jónsdóttir Þórarinn Gíslason Kári Stéfansson Claudia Schurmann Girish N. Nadkarni Erwin P. Böttinger Ruth J. F. Loos Robin Walters Zhengming Chen Iona Y. Millwood Julien Vaucher Om Kurmi Liming Li Anna Hansell Christopher E. Brightling Eleftheria Zeggini Michael H. Cho Edwin K. Silverman

10.1038/ng.3787 article EN Nature Genetics 2017-02-06

Preserved Ratio Impaired Spirometry (PRISm), defined as a reduced FEV1 in the setting of preserved FEV1/FVC ratio, is highly prevalent and associated with increased respiratory symptoms, systemic inflammation, mortality. Studies investigating quantitative chest tomographic features, genetic associations, subtypes PRISm subjects have not been reported. Data from current former smokers enrolled COPDGene (n = 10,192), an observational, cross-sectional study which recruited aged 45–80 ≥10 pack...

10.1186/s12931-014-0089-y article EN cc-by Respiratory Research 2014-08-06

Rationale: Idiopathic pulmonary fibrosis (IPF) is a complex lung disease characterized by scarring of the that believed to result from an atypical response injury epithelium. Genome-wide association studies have reported signals implicating multiple pathways including host defense, telomere maintenance, signaling, and cell-cell adhesion.Objectives: To improve our understanding factors increase IPF susceptibility identifying previously unreported genetic associations.Methods: We conducted...

10.1164/rccm.201905-1017oc article EN cc-by American Journal of Respiratory and Critical Care Medicine 2019-11-11

Most genome-wide association and fine-mapping studies to date have been conducted in individuals of European descent, genetic populations Hispanic/Latino African ancestry are limited. In addition, these more complex linkage disequilibrium structure. order better define the architecture understudied populations, we leveraged >100,000 phased sequences available from deep-coverage whole genome sequencing through multi-ethnic NHLBI Trans-Omics for Precision Medicine (TOPMed) program impute...

10.1371/journal.pgen.1008500 article EN public-domain PLoS Genetics 2019-12-23
Daniel Taliun Daniel Harris Michael D. Kessler Jedidiah Carlson Zachary A. Szpiech and 95 more Raúl Torres Sarah A. Gagliano Taliun André Corvelo Stephanie M. Gogarten Hyun Min Kang Achilleas Pitsillides Jonathon LeFaive Seung‐been Lee Xiaowen Tian Brian L. Browning Sayantan Das Anne‐Katrin Emde Wayne E. Clarke Douglas P. Loesch Amol C. Shetty Thomas W. Blackwell Quenna Wong François Aguet Christine M. Albert Álvaro Alonso Kristin Ardlie Stella Aslibekyan Paul L. Auer John Barnard R. Graham Barr Lewis C. Becker Rebecca Beer Emelia J. Benjamin Lawrence F. Bielak John Blangero Michael Boehnke Donald W. Bowden Jennifer A. Brody Esteban G. Burchard Brian E. Cade James F. Casella Brandon Chalazan Yii‐Der Ida Chen Michael H. Cho Seung Hoan Choi Mina K. Chung Clary B. Clish Adolfo Correa Joanne E. Curran Brian Custer Dawood Darbar Michelle Daya Mariza de Andrade Dawn L. DeMeo Susan K. Dutcher Patrick T. Ellinor Leslie Emery Diane Fatkin Lukas Forer Myriam Fornage Nora Franceschini Christian Fuchsberger Stephanie M. Fullerton Søren Germer Mark T. Gladwin Daniel J. Gottlieb Xiuqing Guo Michael E. Hall Jiang He Nancy L. Heard‐Costa Susan R. Heckbert Marguerite R. Irvin Jill M. Johnsen Andrew D. Johnson Sharon L. R. Kardia Tanika N. Kelly Shannon Kelly Eimear E. Kenny Douglas P. Kiel Robert Klemmer Barbara A. Konkle Charles Kooperberg Anna Köttgen Leslie A. Lange Jessica Lasky‐Su Daniel Levy Xihong Lin Keng‐Han Lin Chunyu Liu Ruth J. F. Loos Lori Garman Robert E. Gerszten Steven A. Lubitz Kathryn L. Lunetta Angel C. Y. Mak Ani Manichaikul Alisa K. Manning Rasika A. Mathias David D. McManus Stephen T. McGarvey

Summary paragraph The Trans-Omics for Precision Medicine (TOPMed) program seeks to elucidate the genetic architecture and disease biology of heart, lung, blood, sleep disorders, with ultimate goal improving diagnosis, treatment, prevention. initial phases focus on whole genome sequencing individuals rich phenotypic data diverse backgrounds. Here, we describe TOPMed goals design as well resources early insights from sequence data. include a variant browser, genotype imputation panel, sharing...

10.1101/563866 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2019-03-06

Angiographic investigation suggests that pulmonary vascular remodeling in smokers is characterized by distal pruning of the blood vessels.Using volumetric computed tomography scans chest we sought to quantitatively evaluate this process and assess its clinical associations.Pulmonary vessels were automatically identified, segmented, measured. Total vessel volume (TBV) aggregate for less than 5 mm(2) (BV5) calculated all lobes. The lobe-specific BV5 measures normalized TBV lobe nonvascular...

10.1164/rccm.201301-0162oc article EN American Journal of Respiratory and Critical Care Medicine 2013-05-08

Muscle wasting in chronic obstructive pulmonary disease (COPD) is associated with a poor prognosis and not readily assessed by measures of body mass index (BMI). BMI does discriminate between relative proportions adipose tissue lean muscle may be insensitive to early pathologic changes composition. Computed tomography (CT)-based assessments the pectoralis muscles provide insight into clinical significance skeletal smokers.

10.1513/annalsats.201307-229oc article EN Annals of the American Thoracic Society 2014-02-21
Emily S. Wan Spyridon Fortis Elizabeth A. Regan John E. Hokanson MeiLan K. Han and 95 more Richard Casaburi Barry J. Make James D. Crapo Dawn L. DeMeo Edwin K. Silverman James D. Crapo Edwin K. Silverman Barry J. Make Elizabeth A. Regan Terri H. Beaty Ferdouse Begum Peter J. Castaldi Michael H. Cho Dawn L. DeMeo Adel R. Boueiz Marilyn G. Foreman Eitan Halper-Stromberg Lystra P. Hayden Craig P. Hersh Jacqueline B. Hetmanski Brian D. Hobbs John E. Hokanson Nan M. Laird Christoph Lange Sharon M. Lutz Merry‐Lynn McDonald Margaret M. Parker Dandi Qiao Elizabeth A. Regan Edwin K. Silverman Emily S. Wan Sungho Won Phuwanat Sakornsakolpat Dmitry Prokopenko Mustafa Al Qaisi Harvey O. Coxson Teresa Gray MeiLan K. Han Eric A. Hoffman Stephen M. Humphries Francine L. Jacobson Philip F. Judy Ella A. Kazerooni Alex Kluiber David A. Lynch John D. Newell Elizabeth A. Regan James C. Ross Raúl San Jośe Estépar Joyce Schroeder Jered Sieren Douglas Stinson Berend C. Stoel Juerg Tschirren Edwin J.R. van Beek Bram van Ginneken Eva M. van Rikxoort George R. Washko Carla G. Wilson Robert L. Jensen Douglas Curran‐Everett Jim Crooks Camille M. Moore Matthew Strand Carla G. Wilson John E. Hokanson J A Hughes Gregory L. Kinney Sharon M. Lutz Katherine Pratte Kendra A. Young Surya P. Bhatt Jessica Bon MeiLan K. Han Barry J. Make Carlos Martínez Susan Murray Elizabeth A. Regan Xavier Soler Carla G. Wilson Russell P. Bowler Katerina Kechris Farnoush Banaei‐Kashani Jeffrey L. Curtis Cristina Martínez Perry G. Pernicano Nicola A. Hanania Philip Alapat Mustafa Atik Venkata Bandi Aladin M. Boriek Kalpatha Guntupalli Elizabeth Guy Arun C. Nachiappan Amit Parulekar

Increasing awareness of the prevalence and significance Preserved Ratio Impaired Spirometry (PRISm), alternatively known as restrictive or Global Initiative for Chronic Obstructive Lung Disease (GOLD)-unclassified spirometry, has expanded body knowledge on cross-sectional risk factors. However, longitudinal studies PRISm remain limited.

10.1164/rccm.201804-0663oc article EN American Journal of Respiratory and Critical Care Medicine 2018-06-06

Rationale: Interstitial lung abnormalities (ILA) are radiologic on chest computed tomography scans that have been associated with an early or mild form of pulmonary fibrosis. Although ILA progression, it is not known if specific imaging patterns progression risk mortality.Objectives: To determine the role death and progression.Methods: (and pattern) were assessed in 5,320 participants from AGES-Reykjavik Study, was 3,167 participants. Multivariable logistic regression used to assess factors...

10.1164/rccm.201809-1652oc article EN American Journal of Respiratory and Critical Care Medicine 2019-01-23

Abstract Chronic obstructive pulmonary disease (COPD) is associated with age and smoking, but other determinants of the are incompletely understood. Clonal hematopoiesis indeterminate potential (CHIP) a common, age-related state in which somatic mutations clonal blood populations induce aberrant inflammatory responses. Patients CHIP have an elevated risk for cardiovascular disease, association COPD remains unclear. We analyzed whole-genome sequencing whole-exome data to detect 48 835...

10.1182/blood.2021013531 article EN cc-by Blood 2021-12-02
Pradeep Natarajan Gina M. Peloso Seyedeh M. Zekavat May E. Montasser Andrea Ganna and 95 more Mark Chaffin Amit V. Khera Wei Zhou Jonathan M. Bloom J Engreitz Jason Ernst Jeffrey R. O’Connell Sanni Ruotsalainen Maris Alver Ani Manichaikul W. Craig Johnson James A. Perry Timothy Poterba Cotton Seed Ida Surakka Tõnu Esko Samuli Ripatti Veikko Salomaa Adolfo Correa Ramachandran S. Vasan Manolis Kellis Benjamin M. Neale Eric S. Lander Gonçalo R. Abecasis Braxton D. Mitchell Stephen S. Rich James G. Wilson L. Adrienne Cupples Jerome I. Rotter Cristen J. Willer Sekar Kathiresan Namiko Abe Christine M. Albert Nicholette Palmer Allred Laura Almasy Álvaro Alonso Seth A. Ament Peter Anderson Pramod Anugu Deborah Applebaum‐Bowden Dan E. Arking Donna K. Arnett Allison E. Ashley‐Koch Stella Aslibekyan Tim Assimes Paul L. Auer Dimitrios Avramopoulos J. A. Barnard Kathleen C. Barnes R. Graham Barr Emily Barron‐Casella Terri H. Beaty Diane M. Becker Lewis C. Becker Rebecca Beer Ferdouse Begum Amber L. Beitelshees Emelia J. Benjamin Marcos Bezerra Larry Bielak Joshua C. Bis Thomas W. Blackwell John Blangero Eric Boerwinkle Ingrid B. Borecki Russell P. Bowler Jennifer A. Brody Ulrich Broeckel Jai Broome Karen Bunting Esteban Burchard Jonathan Cardwell Cara L. Carty Richard Casaburi James F. Casella Christy Chang Daniel I. Chasman Sameer Chavan Bo-Juen Chen Wei‐Min Chen Yii-Der Ida Chen Michael H. Cho Seung Hoan Choi Lee‐Ming Chuang Mina K. Chung Elaine Cornell Carolyn Crandall James D. Crapo Joanne E. Curran Jeffrey L. Curtis Brian Custer Coleen Damcott Dawood Darbar Sayantan Das Sean P. David

Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X analyze genotypes with quantitative traits-plasma total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density triglycerides. Common variant association yields known loci except few variants previously poorly imputed. Rare coding Mendelian dyslipidemia genes but rare...

10.1038/s41467-018-05747-8 article EN cc-by Nature Communications 2018-08-17
Katherine Lowe Elizabeth A. Regan Antonio Anzueto Erin Austin John H. M. Austin and 95 more Terri H. Beaty Panayiotis V. Benos Christopher J. Benway Surya P. Bhatt Eugene R. Bleecker Sandeep Bodduluri Jessica Bon Aladin M. Boriek Adel R. Boueiz Russell P. Bowler Matthew J. Budoff Richard Casaburi Peter J. Castaldi Jean-Paul Charbonnier Michael H. Cho Alejandro P. Comellas Douglas Conrad Corinne Costa Davis Gerard J. Criner Douglas Curran‐Everett Jeffrey L. Curtis Dawn L. DeMeo Alejandro A. Díaz Mark T. Dransfield Jennifer Dy Ashraf Fawzy Margaret Fleming Eric L. Flenaugh Marilyn G. Foreman Spyridon Fortis Hirut Gebrekristos Sarah Schmidt Grant Philippe Greniér Tian Gu Abhya Gupta MeiLan K. Han Nicola A. Hanania Nadia N. Hansel Lystra P. Hayden Craig P. Hersh Brian D. Hobbs Eric A. Hoffman James C. Hogg John E. Hokanson Karin F. Hoth Albert Hsiao Stephen M. Humphries Kathleen Jacobs Francine L. Jacobson Ella A. Kazerooni V. Kim Woo Jin Kim Gregory L. Kinney Harald Koegler Sharon M. Lutz David A. Lynch Neil R. MacIntye Barry J. Make Nathaniel Marchetti Fernando J. Martínez Diego J. Maselli Anne M. Mathews Meredith C. McCormack Merry‐Lynn McDonald Charlene McEvoy Matthew Moll Sarah S. Molye Susan Murray Hrudaya Nath John D. Newell Mariaelena Occhipinti Matteo Paoletti Trisha M. Parekh Massimo Pistolesi Katherine Pratte Nirupama Putcha M.F. Ragland Joseph M. Reinhardt Stephen I. Rennard Richard Rosiello James C. Ross Harry B. Rossiter Ingo Ruczinski Raúl San Jośe Estépar Frank C. Sciurba Jessica C. Sieren Harjinder Singh Xavier Soler Robert M. Steiner Matthew Strand William W. Stringer Ruth Tal‐Singer Byron Thomashow Gonzalo Vegas‐Sánchez‐Ferrero John W. Walsh

Chronic obstructive pulmonary disease (COPD) remains a major cause of morbidity and mortality. Present-day diagnostic criteria are largely based solely on spirometric criteria. Accumulating evidence has identified substantial number individuals without COPD who suffer from respiratory symptoms and/or increased There is clear need for an expanded definition that linked to physiologic, structural (computed tomography [CT]) clinical disease. Using data the Genetic Epidemiology study (COPDGene

10.15326/jcopdf.6.5.2019.0149 article EN Chronic Obstructive Pulmonary Diseases Journal of the COPD Foundation 2019-01-01
Yang Luo Masahiro Kanai Wanson Choi Xinyi Li Saori Sakaue and 95 more Kenichi Yamamoto Kotaro Ogawa María Gutiérrez‐Arcelus Peter K. Gregersen Philip E. Stuart James T. Elder Lukas Forer Sebastian Schönherr Christian Fuchsberger Albert V. Smith Jacques Fellay Mary Carrington David W. Haas Xiuqing Guo Nicholette D. Palmer Yii‐Der Ida Chen Jerome I. Rotter Kent D. Taylor Stephen S. Rich Adolfo Correa James G. Wilson Sekar Kathiresan Michael H. Cho Andres Metspalu Tõnu Esko Yukinori Okada Buhm Han Namiko Abe Gonçalo R. Abecasis François Aguet Christine M. Albert Laura Almasy Álvaro Alonso Seth A. Ament Peter Anderson Pramod Anugu Deborah Applebaum‐Bowden Kristin Ardlie Dan E. Arking Donna K. Arnett Allison E. Ashley‐Koch Stella Aslibekyan Tim Assimes Paul L. Auer Dimitrios Avramopoulos Najib Ayas Adithya Balasubramanian John Barnard Kathleen C. Barnes R. Graham Barr Emily Barron‐Casella Lucas Barwick Terri H. Beaty Gerald J. Beck Diane M. Becker Lewis C. Becker Rebecca Beer Amber L. Beitelshees Emelia J. Benjamin Takis Benos Marcos Bezerra Larry Bielak Joshua C. Bis Thomas W. Blackwell John Blangero Eric Boerwinkle Donald W. Bowden Russell P. Bowler Jennifer A. Brody Ulrich Broeckel Jai Broome Deborah Brown Karen Bunting Esteban Burchard Carlos D. Bustamante Erin Buth Brian E. Cade Jonathan Cardwell Vincent J. Carey Julie Carrier Cara L. Carty Richard Casaburi Juan P. Romero James F. Casella Peter J. Castaldi Mark Chaffin Christy Chang Yi–Cheng Chang Daniel I. Chasman Sameer Chavan Bo‐Juen Chen Wei‐Min Chen Seung Hoan Choi Lee‐Ming Chuang Mina K. Chung

10.1038/s41588-021-00935-7 article EN Nature Genetics 2021-10-01

Airway mucus plugs are common in patients with chronic obstructive pulmonary disease (COPD); however, the association of airway plugging and mortality COPD is unknown.To determine whether identified on chest computed tomography (CT) were associated increased all-cause mortality.Observational retrospective analysis prospectively collected data a diagnosis Genetic Epidemiology cohort. Participants non-Hispanic Black or White individuals, aged 45 to 80 years, who smoked at least 10 pack-years....

10.1001/jama.2023.2065 article EN JAMA 2023-05-21
Coming Soon ...