Peter J. Castaldi

ORCID: 0000-0001-9920-4713
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About
Contact & Profiles
Research Areas
  • Chronic Obstructive Pulmonary Disease (COPD) Research
  • Asthma and respiratory diseases
  • RNA modifications and cancer
  • Respiratory Support and Mechanisms
  • Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
  • Genetic Associations and Epidemiology
  • Neonatal Respiratory Health Research
  • Cancer-related molecular mechanisms research
  • Pediatric health and respiratory diseases
  • Delphi Technique in Research
  • Epigenetics and DNA Methylation
  • RNA Research and Splicing
  • Pulmonary Hypertension Research and Treatments
  • Lung Cancer Diagnosis and Treatment
  • IL-33, ST2, and ILC Pathways
  • Bioinformatics and Genomic Networks
  • Advanced Proteomics Techniques and Applications
  • Genomics and Rare Diseases
  • RNA and protein synthesis mechanisms
  • Respiratory viral infections research
  • Pleural and Pulmonary Diseases
  • Genetics, Bioinformatics, and Biomedical Research
  • Lung Cancer Treatments and Mutations
  • Gene expression and cancer classification
  • Myeloproliferative Neoplasms: Diagnosis and Treatment

Harvard University
2016-2025

Brigham and Women's Hospital
2016-2025

Vision Technology (United States)
2025

Mass General Brigham
2025

Harvard Pilgrim Health Care
2023

KTH Royal Institute of Technology
2023

Harvard University Press
2009-2022

University of Vermont
2021

The University of Texas Health Science Center at Houston
2020

Baylor College of Medicine
2017-2020

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
Jeong H. Yun Andrew Lamb Robert Chase Dave Singh Margaret M. Parker and 95 more Aabida Saferali Jørgen Vestbo Ruth Tal‐Singer Peter J. Castaldi Edwin K. Silverman Craig P. Hersh James D. Crapo Edwin K. Silverman Barry J. Make Elizabeth A. Regan Terri H. Beaty Ferdouse Begum Robert Busch Peter J. Castaldi Michael Cho Dawn L. DeMeo Adel R. Boueiz Marilyn G. Foreman Eitan Halper-Stromberg Nadia N. Hansel Megan Hardin 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 Stephanie Santorico Edwin K. Silverman Emily S. Wan Sungho Won Mustafa Al Qaisi Harvey O. Coxson Teresa Gray MeiLan K. Han Eric A. Hoffman Steve E. 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 R. 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 T. Jensen D. H. Everett Jim Crooks Camille M. Moore Matthew Strand Carla G. Wilson John E. Hokanson John P. Hughes Gregory L. Kinney Sharon M. Lutz Katherine Pratte Kendra A. Young 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 Dawn L. DeMeo Craig P. Hersh Francine L. Jacobson George R. Washko R. Graham Barr John Austin Belinda D’Souza Gregory D. Pearson Anna Rozenshtein

10.1016/j.jaci.2018.04.010 article EN publisher-specific-oa Journal of Allergy and Clinical Immunology 2018-04-28
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
Waihay J. Wong Connor A. Emdin Alexander G. Bick Seyedeh M. Zekavat Abhishek Niroula and 95 more James P. Pirruccello Laura E. Dichtel Gabriel K. Griffin Md Mesbah Uddin Christopher J. Gibson Veronica Kovalcik Amy Lin Marie McConkey Amélie Vromman Rob S. Sellar Peter G. Kim Mridul Agrawal Joshua S. Weinstock Michelle T. Long Bing Yu Rajarshi Banerjee Rowan C. Nicholls Andrea Dennis Matt Kelly Po−Ru Loh Steve McCarroll Eric Boerwinkle Ramachandran S. Vasan Siddhartha Jaiswal Andrew D. Johnson Raymond T. Chung Kathleen E. Corey Daniel Levy Christie M. Ballantyne 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 Nathan R. Blue Donald W. Bowden Russell P. Bowler Jennifer A. Brody Ulrich Broeckel Jai Broome Deborah Brown Karen Bunting Esteban G. Burchard Carlos D. Bustamante Erin Buth Brian E. Cade Jonathan Cardwell Vincent J. Carey Julie Carrier April P. Carson 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

10.1038/s41586-023-05857-4 article EN Nature 2023-04-12

Chronic obstructive pulmonary disease (COPD) is defined by the presence of airflow limitation on spirometry, yet subjects with COPD can have marked differences in computed tomography imaging. These may be driven genetic factors. We hypothesized that a genome-wide association study (GWAS) quantitative imaging would identify loci not previously identified analyses or spirometry. In addition, we sought to determine whether described significant and spirometric were associated emphysema airway...

10.1164/rccm.201501-0148oc article EN American Journal of Respiratory and Critical Care Medicine 2015-06-02

Rationale: Emphysema occurs in distinct pathologic patterns, but little is known about the epidemiologic associations of these patterns. Standard quantitative measures emphysema from computed tomography (CT) do not distinguish between patterns parenchymal destruction.Objectives: To study with lung-related physiology, function, and health care use smokers.Methods: Using a local histogram-based assessment lung density, we quantified low attenuation 9,313 smokers COPDGene Study. determine if...

10.1164/rccm.201305-0873oc article EN American Journal of Respiratory and Critical Care Medicine 2013-08-27

Previous studies of chronic obstructive pulmonary disease (COPD) have suggested that genetic factors play an important role in the development disease. However, single-nucleotide polymorphisms are associated with COPD genome-wide association been shown to account for only a small percentage variance phenotypes COPD, such as spirometry and imaging variables. These highly predictive disease, family spirometric heritable.To assess heritability coheritability four major COPD-related...

10.1164/rccm.201302-0263oc article EN American Journal of Respiratory and Critical Care Medicine 2013-08-23

A genetic locus within the FAM13A gene has been consistently associated with chronic obstructive pulmonary disease (COPD) in genome-wide association studies. However, mechanisms by which contributes to COPD susceptibility are unknown.To determine biologic function of human and murine models discover molecular mechanism influences susceptibility.Fam13a null mice (Fam13a(-/-)) were generated exposed cigarette smoke. The lung inflammatory response airspace size assessed Fam13a(-/-) Fam13a(+/+)...

10.1164/rccm.201505-0999oc article EN American Journal of Respiratory and Critical Care Medicine 2016-02-10

Blood biomarkers are increasingly used to stratify high risk chronic obstructive pulmonary disease (COPD) patients; however, there fewer studies that have investigated multiple and replicated in large well-characterized cohorts of susceptible current former smokers. We two MSD multiplex panels measure 9 cytokines chemokines 2123 subjects from COPDGene 1117 SPIROMICS. These included: interleukin (IL)-2, IL-6, IL-8, IL-10, tumor necrosis factor (TNF)-α, interferon (IFN)-γ, eotaxin/CCL-11,...

10.1186/s12931-017-0662-2 article EN cc-by Respiratory Research 2017-10-24
Alexandra L. Young Felix Bragman Bojidar Rangelov MeiLan K. Han Craig J. Galbán and 95 more David A. Lynch David J. Hawkes Daniel C. Alexander John R. Hurst James D. Crapo Edwin K. Silverman Barry J. Make Elizabeth A. Regan Terri H. Beaty Ferdouse Begum Peter J. Castaldi Michael 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 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 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 J A Hughes Gregory L. Kinney Katherine Pratte Kendra A. Young Surya P. Bhatt Jessica Bon Cristina Martínez Susan Murray Xavier Soler 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 R. Graham Barr John Austin Belinda D’Souza Gregory D. Pearson Anna Rozenshtein Byron Thomashow Neil R. MacIntyre H. Page McAdams Lacey Washington Charlene McEvoy Joseph Tashjian

Rationale: The decades-long progression of chronic obstructive pulmonary disease (COPD) renders identifying different trajectories challenging.Objectives: To identify subtypes patients with COPD distinct longitudinal patterns using a novel machine-learning tool called "Subtype and Stage Inference" (SuStaIn) to evaluate the utility SuStaIn for patient stratification in COPD.Methods: We applied cross-sectional computed tomography imaging markers 3,698 Global Initiative Chronic Obstructive Lung...

10.1164/rccm.201908-1600oc article EN American Journal of Respiratory and Critical Care Medicine 2019-10-28

The detection of physiologically relevant protein isoforms encoded by the human genome is critical to biomedicine. Mass spectrometry (MS)-based proteomics preeminent method for detection, but isoform-resolved proteomic analysis relies on accurate reference databases that match sample; neither a subset nor superset database ideal. Long-read RNA sequencing (e.g., PacBio or Oxford Nanopore) provides full-length transcripts which can be used predict isoforms.

10.1186/s13059-022-02624-y article EN cc-by Genome biology 2022-03-03
Ana B. Villaseñor-Altamirano Dhawal Jain Yunju Jeong Jaivardhan A. Menon Mari Kamiya and 95 more Hibah Haider Reshmi Manandhar Muhammad Dawood Amir Sheikh Humra Athar Louis T. Merriam Min Hyung Ryu Takanori Sasaki Peter J. Castaldi Deepak A. Rao Lynette M. Sholl Marina Vivero Craig P. Hersh Xiaobo Zhou Justus Veerkamp Jeong H. Yun Edy Y. Kim Markus Koch Alessandro Arduini Hana Černecká Nicole Schmidt Alexis Laux‐Biehlmann Damian Brockschnieder Xiaofei Cong Anna Engler Mahmoud M. Ibrahim Dhawal Jain Ivan Kryukov Kuldeep Kumawat T. Lang Yelena Leathurby Xin Lin Joerg Meding Carlos Neideck Kseniya Obraztsova Chandan Pavuluri Magdalena Platzk Patrick Smith Florian Sohler Salil Srivastava Pooja Srinivasa Tobias Strunz Jody Sylvia Lea Vaas Justus Veerkamp Alex Zink Lingyao Zhang Liang Zeng Xin Lin Edwin K. Silverman Vincent J. Carey Peter J. Castaldi Michael H. Cho Dawn L. DeMeo Craig P. Hersh Brian D. Hobbs Matthew Moll Heena Rijhwani Jeong H. Yun Xiaobo Zhou Bruce D. Levy Yohannes Tesfaigzi Humra Athar Yan Bai Rebecca M. Baron Tracy J. Doyle Souheil El‐Chemaly Laura E. Fredenburgh Gary Matt Hunninghake Yunju Jeong Edy Y. Kim Nandini Krishnamoorthy Yohannes A. Mebratu Mark A. Perrella Joselyn Rojas Quintero Z.H. Negasi Mohammed Mizanur Rahman D. Tassew Nirmal S. Sharma Tomoyoshi Tamura Ana B. Villaseñor-Altamirano Benjamin D. Medoff Elizabeth Abe Katherine Black Corey Hardin Rachel S. Knipe Barry S. Shea Jill Spiney Mahaa Albsuharif Francesca Giacona Armin Jayaswai Greg Keras Sool Lee Jianyuan Liu Chandan Pavuluri Betty Pham

Rationale: Despite the importance of inflammation in chronic obstructive pulmonary disease (COPD), immune cell landscape lung tissue patients with mild-moderate has not been well characterized at single-cell and molecular level. Objectives: To define from COPD resolution. Methods: We performed transcriptomic, proteomic, T-cell receptor repertoire analyses on (n = 5, Global Initiative for Chronic Obstructive Lung Disease I or II), emphysema without airflow obstruction 5), end-stage 2),...

10.1164/rccm.202305-0924oc article EN American Journal of Respiratory and Critical Care Medicine 2023-09-27
Han‐Mo Yang Min Hyung Ryu Vincent J. Carey Gregory L. Kinney John E. Hokanson and 95 more Mark T. Dransfield Craig P. Hersh Edwin K. Silverman James D. Crapo Edwin K. Silverman Barry J. Make Elizabeth A. Regan Terri H. Beaty Peter J. Castaldi Michael H. Cho Dawn L. DeMeo Adel Boueiz Marilyn G. Foreman Auyon Ghosh Lystra P. Hayden Craig P. Hersh Jacqueline B. Hetmanski Brian D. Hobbs John E. Hokanson Wonji Kim Nan M. Laird Christoph Lange Sharon M. Lutz Merry‐Lynn McDonald Dmitry Prokopenko Matthew Moll Jarrett D. Morrow Dandi Qiao Elizabeth A. Regan Aabida Saferali Phuwanat Sakornsakolpat Edwin K. Silverman Emily S. Wan Jeong H. Yun Juan Pablo Centeno Jean‐Paul Charbonnier Harvey O. Coxson Craig J. Galbán MeiLan K. Han Eric A. Hoffman Stephen M. Humphries Francine L. Jacobson Philip F. Judy Ella A. Kazerooni Alex Kluiber David A. Lynch Pietro Nardelli John D. Newell Aleena Notary Andrea Oh Elizabeth A. Regan James C. Ross Raúl San Jośe Estépar Joyce Schroeder Jered Sieren Berend C. Stoel Juerg Tschirren Edwin J.R. van Beek Bram van Ginneken Eva M. van Rikxoort Gonzalo Vegas‐Sánchez‐Ferrero Lucas Veitel George R. Washko Carla G. Wilson Robert L. Jensen Douglas Curran‐Everett Jim Crooks Katherine Pratte Matthew Strand Carla G. Wilson John E. Hokanson Erin Austin Gregory L. Kinney Sharon M. Lutz Kendra A. Young Surya P. Bhatt Jessica Bon Alejandro A. Díaz MeiLan K. Han Barry J. Make Susan Murray Elizabeth Regan Xavier Soler Carla G. Wilson Russell P. Bowler Katerina Kechris Farnoush Banaei‐Kashani Jeffrey L. Curtis Perry G. Pernicano Nicola A. Hanania Mustafa Atik Aladin M. Boriek Kalpatha Guntupalli Elizabeth Guy Amit Parulekar

Cardiovascular disease (CVD) is the most important comorbidity in patients with chronic obstructive pulmonary (COPD). COPD exacerbations not only contribute to progression but may also elevate risk of CVD. This study aimed determine whether increase subsequent CVD events using up 15 years prospective longitudinal follow-up data from COPDGene (Genetic Epidemiology Chronic Obstructive Pulmonary Disease) study.

10.1161/jaha.123.033882 article EN cc-by-nc-nd Journal of the American Heart Association 2024-05-31

Identification of COPD disease-causing genes is an important tool for understanding why develops, who at highest risk, and how new treatments can be developed. Previous genetic studies have identified a highly significant association near nephronectin (NPNT), gene involved in tissue repair, but the biological mechanisms underlying this are unknown. Splicing quantitative trait locus analysis (sQTL) was performed to identify common variants that alter RNA splicing lung tissues. These sQTL...

10.1183/13993003.01407-2024 article EN European Respiratory Journal 2025-02-20

Long-read RNA-seq has shed light on transcriptomic complexity, but questions remain about the functionality of downstream protein products. We introduce Biosurfer, a computational approach for comparing isoforms, while systematically tracking transcriptional, splicing, and translational variations that underlie differences in sequences Using we analyzed 35,082 pairs GENCODE annotated finding majority (70%) variable N-termini are due to alternative transcription start sites, only 9% arise...

10.1101/gr.279317.124 article EN Genome Research 2025-03-14

Emphysema is a heritable trait that occurs in smokers with and without chronic obstructive pulmonary disease. distinct pathologic patterns, but the genetic determinants of these patterns are unknown.To identify loci associated emphysema investigate regulatory function loci.Quantitative measures were generated from computed tomography scans COPDGene Study using local histogram quantification method. Genome-wide association studies (GWAS) performed 9,614 subjects for five results referenced...

10.1164/rccm.201403-0569oc article EN American Journal of Respiratory and Critical Care Medicine 2014-07-09
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