Evidence map›Paper›PMID 29509491›Full record

ArticleAmerican journal of respiratory and critical care medicine2018

Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

Angel C Y Mak, Marquitta J White, Walter L Eckalbar, Zachary A Szpiech, Sam S Oh, Maria Pino-Yanes, Donglei Hu, Pagé Goddard, Scott Huntsman, Joshua Galanter and 44 more

Open access · greenAbstract readComparative Study
In one paragraph

Article in American journal of respiratory and critical care medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 5 pooled it
34.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

67 citing papers in PubMed, 5 syntheses or guidelines pooled it, 132 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Uncovering Outcome Disparities of βJournal of the National Medical Association · 2021
    Pooled it
  5. Pooled it
  6. Trial
  7. Trial
  8. iScience · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Review
  15. Pharmacogenetics of childhood uncontrolled asthma.Expert review of clinical immunology · 2025
    Review
  16. Genes · 2024
    Article
  17. Article
  18. Review
  19. Article
  20. Review

7 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

54 authors at 20 institutions in 6 countries.

Angel C Y Mak1 Department of Medicine.ORCID 0000-0002-5372-4198
Marquitta J White1 Department of Medicine.
Walter L Eckalbar1 Department of Medicine.
Zachary A Szpiech2 Department of Bioengineering and Therapeutic Sciences.ORCID 0000-0001-6372-8224
Sam S Oh1 Department of Medicine.ORCID 0000-0002-2815-6037
Maria Pino-Yanes3 Research Unit, Hospital Universitario N. S. de Candelaria, Universidad de La Laguna, Santa Cruz de Tenerife, Spain.
Donglei Hu1 Department of Medicine.
Pagé Goddard1 Department of Medicine.
Scott Huntsman1 Department of Medicine.
Joshua Galanter1 Department of Medicine.
Ann Chen Wu5 Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Blanca E Himes7 Department of Biostatistics, Epidemiology and Informatics and.
Soren Germer8 New York Genome Center, New York, New York.
Julia M Vogel8 New York Genome Center, New York, New York.
Karen L Bunting8 New York Genome Center, New York, New York.
Celeste Eng1 Department of Medicine.
Sandra Salazar1 Department of Medicine.
Kevin L Keys1 Department of Medicine.
Jennifer Liberto1 Department of Medicine.
Thomas J Nuckton1 Department of Medicine.
Thomas A Nguyen1 Department of Medicine.
Dara G Torgerson9 Department of Pediatrics.
Pui-Yan Kwok10 Cardiovascular Research Institute.
Albert M Levin12 Department of Public Health Sciences.
Juan C Celedón13 Division of Pediatric Pulmonary Medicine, Allergy and Immunology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Erick Forno13 Division of Pediatric Pulmonary Medicine, Allergy and Immunology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.ORCID 0000-0001-6497-9885
Hakon Hakonarson15 Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Patrick M Sleiman15 Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Amber Dahlin5 Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Kelan G Tantisira5 Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Scott T Weiss5 Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Denise Serebrisky16 Pediatric Pulmonary Division, Jacobi Medical Center, Bronx, New York.
Emerita Brigino-Buenaventura17 Department of Allergy and Immunology, Kaiser Permanente Vallejo Medical Center, Vallejo, California.
Harold J Farber18 Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
Kelley Meade19 Children's Hospital and Research Center, Oakland, California.
Michael A Lenoir20 Bay Area Pediatrics, Oakland, California.
Pedro C Avila21 Department of Medicine, Northwestern University, Chicago, Illinois.
Saunak Sen1 Department of Medicine.
Shannon M Thyne22 Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
William Rodriguez-Cintron23 Veterans Caribbean Health Care System, San Juan, Puerto Rico.
Cheryl A Winkler24 Basic Science Laboratory, Center for Cancer Research, National Cancer Institute, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland.
Andrés Moreno-Estrada25 National Laboratory of Genomics for Biodiversity (UGA-LANGEBIO), CINVESTAV, Irapuato, Guanajuato, Mexico.
Karla Sandoval25 National Laboratory of Genomics for Biodiversity (UGA-LANGEBIO), CINVESTAV, Irapuato, Guanajuato, Mexico.
Jose R Rodriguez-Santana26 Centro de Neumologia Pediatrica, San Juan, Puerto Rico.
Rajesh Kumar27 Division of Allergy and Immunology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
L Keoki Williams29 Department of Internal Medicine, and.
Nadav Ahituv2 Department of Bioengineering and Therapeutic Sciences.
Elad Ziv1 Department of Medicine.
Max A Seibold31 Center for Genes, Environment and Health, Department of Pediatrics, National Jewish Health, Denver, Colorado; and.
Robert B Darnell8 New York Genome Center, New York, New York.
Noah Zaitlen1 Department of Medicine.
Ryan D Hernandez2 Department of Bioengineering and Therapeutic Sciences.
Esteban G Burchard1 Department of Medicine.
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Brigham and Women's Hospital · USNew York Genome Center · USCentro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional · MXChildren's Hospital of Philadelphia · USNorthwestern University · USUniversity of Pittsburgh · USBaylor College of Medicine · USCardiovascular Institute Hospital · JPCentro de Neumologia Pediatrica · PRHenry Ford Health System · USHoward Hughes Medical Institute · USInstitute for Medical Informatics and Biostatistics · CHJacobi Medical Center · USKaiser Permanente Vallejo Medical Center · USKIPP Bay Area Schools · USLeidos (United States) · USNational Jewish Health · USQB3 · USUniversidad de La Laguna · ESUniversity of California, Los Angeles · US

Funding

New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
Translational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Trevor M Penning · 2006 to 2026
$35.3M
UCSF IRACDA Scholars ProgramK12GM081266 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Raymond M. Esquerra, HOLLY A. INGRAHAM · 2007 to 2026
$19.4M
The Genetic Epidemiology of Asthma in Costa RicaR37HL066289 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI WEISS, SCOTT T · 2007 to 2015
$14.6M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with AsthmaR01HL117004 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, SEIBOLD, MAX A · 2013 to 2022
$9.3M
Transcriptomic and Genetic Endotyping of Exacerbation-Prone AsthmaticsP01HL132821 · NHLBI · NATIONAL JEWISH HEALTH · PI VOELKER, DENNIS R. · 2017 to 2021
$9.0M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Genetics of Renal Disease in African AmericansZIABC010022 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI WINKLER, CHERYL · 2009 to 2022
$8.9M
Social Interventions to address disparities In young adult tobacco useP60MD006902 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BIBBINS-DOMINGO, KIRSTEN · 2012 to 2016
$6.4M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Gene-environments and Admixture in Latino Asthmatics (GALA 2)R01ES015794 · NIEHS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BURCHARD, ESTEBAN GONZALEZ · 2008 to 2012
$5.4M
NCI NIH HHS R01 CA197139NHGRI NIH HHS R01 HG006399NHGRI NIH HHS U01 HG008684NHGRI NIH HHS UM1 HG008901NHLBI NIH HHS K01 HL130629NHLBI NIH HHS K01 HL140218NHLBI NIH HHS K08 HL125666NHLBI NIH HHS K25 HL121295NHLBI NIH HHS K99 HL135403NHLBI NIH HHS P01 HL132821NHLBI NIH HHS R01 HL117004NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL118267NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL128439NHLBI NIH HHS R01 HL133433NHLBI NIH HHS R01 HL135156NHLBI NIH HHS R01 HL138424NHLBI NIH HHS R37 HL066289NIAID NIH HHS R01 AI079139NICHD NIH HHS R01 HD085993NIDDK NIH HHS R01 DK113003NIEHS NIH HHS P30 ES013508NIEHS NIH HHS R01 ES015794NIEHS NIH HHS R21 ES024844NIGMS NIH HHS K12 GM081266NIGMS NIH HHS RL5 GM118984NIMHD NIH HHS P60 MD006902NIMHD NIH HHS R01 MD010443
6 · The paper itself

Abstract

rationaleAlbuterol, a bronchodilator medication, is the first-line therapy for asthma worldwide. There are significant racial/ethnic differences in albuterol drug response.

objectivesTo identify genetic variants important for bronchodilator drug response (BDR) in racially diverse children.

methodsWe performed the first whole-genome sequencing pharmacogenetics study from 1,441 children with asthma from the tails of the BDR distribution to identify genetic association with BDR. MEASUREMENTS AND MAIN

resultsWe identified population-specific and shared genetic variants associated with BDR, including genome-wide significant (P < 3.53 × 10

conclusionsThe lack of minority data, despite a collaboration of eight universities and 13 individual laboratories, highlights the urgent need for a dedicated national effort to prioritize diversity in research. Our study expands the understanding of pharmacogenetic analyses in racially/ethnically diverse populations and advances the foundation for precision medicine in at-risk and understudied minority populations.

Indexed as

Genome-Wide Association StudyRace FactorsAdolescentAlbuterolAsthmaBlack or African AmericanBronchodilator AgentsChildFemaleHispanic or LatinoHumansMaleMexican AmericansPharmacogenomic VariantsPolymorphism, Single NucleotideUnited StatesAlbuterolBronchodilator AgentsalbuterolasthmaLatinosminorityNFKB1

Identifiers

PMID29509491
PMCPMC6006403
OpenAlexW2793679678

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.