ArticleNature communications2015
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.
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In one paragraph
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 4 of them syntheses that pooled it.
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47citing papers in PubMed, 4 pooled it
6.2field-weighted citation impact, top 3% of its field
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Who cites it
47 citing papers in PubMed, 4 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Transethnic meta-analysis of exome-wide variants identifies new loci associated with male-specific metabolic syndrome.Genes & genomics · 2022Pooled it
- Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.Nature communications · 2020Pooled it
- Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus atHeart (British Cardiac Society) · 2018Pooled it
- Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.Nature genetics · 2018Pooled it
- Early Life Exposure to Air Pollutants and Childhood Asthma.Current allergy and asthma reports · 2026Review
- Update on environmental determinants of allergic diseases.The Journal of allergy and clinical immunology · 2026Review
- Transplacental Antimicrobial Antibodies and Childhood Asthma: Maternal Nativity as an Upstream Factor.Allergy · 2026Article
- Article
- Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma.The Journal of allergy and clinical immunology · 2024Article
- Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors.International journal of molecular sciences · 2023Article
- African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans.Genome medicine · 2022Article
- Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population.Respiratory research · 2022Article
- A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.Scientific reports · 2022Article
- Integration of Genomic Risk Scores to Improve the Prediction of Childhood Asthma Diagnosis.Journal of personalized medicine · 2022Article
- An Overview of Health Disparities in Asthma.The Yale journal of biology and medicine · 2021Review
- Polygenic Risk Score for Alzheimer's Disease in Caribbean Hispanics.Annals of neurology · 2021Article
- Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population.Journal of clinical laboratory analysis · 2021Article
- Ikaros Proteins in Tumor: Current Perspectives and New Developments.Frontiers in molecular biosciences · 2021Review
- FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses.Nature communications · 2020Article
- Maternal diesel particle exposure promotes offspring asthma through NK cell-derived granzyme B.The Journal of clinical investigation · 2020Article
Corrections and comments
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Authors and funding
32 authors at 13 institutions in 3 countries.
Catherine IgartuaDepartment of Human Genetics, University of Chicago, 920 East 58th Street, CLSC 425, Chicago, Illinois 60637, USA.
Rachel A MyersDepartment of Human Genetics, University of Chicago, 920 East 58th Street, CLSC 425, Chicago, Illinois 60637, USA.
Rasika A MathiasDepartment of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
Maria Pino-Yanes1] Department of Medicine, University of California San Francisco, San Francisco, California 94143, USA [2] CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid 28029, Spain.
Celeste EngDepartment of Medicine, University of California San Francisco, San Francisco, California 94143, USA.
Penelope E GravesArizona Respiratory Center and BIO5 Institute, University of Arizona, Tucson, Arizona 85721, USA.
Albert M LevinDepartment of Public Health Science, Henry Ford Health System, Detroit, Michigan 48202, USA.
Blanca E Del-Rio-NavarroHospital Infantil de Mexico Federico Gomez, Mexico City 06720, Mexico.
Daniel J JacksonDepartment of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USA.
Oren E LivneDepartment of Human Genetics, University of Chicago, 920 East 58th Street, CLSC 425, Chicago, Illinois 60637, USA.
Nicholas RafaelsDepartment of Epidemiology, Johns Hopkins University, Baltimore, Maryland 21224, USA.
Christopher K EdlundDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
James J YangSchool of Nursing, University of Michigan, Ann Arbor, Michigan 48202, USA.
Scott HuntsmanDepartment of Medicine, University of California San Francisco, San Francisco, California 94143, USA.
Muhammad T SalamDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Isabelle RomieuInternational Agency for Research on Cancer, Lyon 69372, France.
Raphael MouradDepartment of Human Genetics, University of Chicago, 920 East 58th Street, CLSC 425, Chicago, Illinois 60637, USA.
James E Gern1] Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USA [2] Department of Internal Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USA.
Robert F Lemanske1] Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USA [2] Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USA.
Annah WyssDivision of Intramural Research, Department of Health and Human Services, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.
Jane A Hoppin1] Division of Intramural Research, Department of Health and Human Services, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA [2] Department of Biological Sciences, North Carolina State University, Raleigh, North Carolina 27607, USA.
Kathleen C BarnesDepartment of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
Esteban G Burchard1] Department of Medicine, University of California San Francisco, San Francisco, California 94143, USA [2] Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California 94143, USA.
W James GaudermanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Fernando D MartinezArizona Respiratory Center and BIO5 Institute, University of Arizona, Tucson, Arizona 85721, USA.
Benjamin A Raby1] Channing Division of Network Medicine, Harvard Medical School, Boston, Massachusetts 2115, USA [2] Division of Pulmonary and Critical Care Medicine, Harvard Medical School, Boston, Massachusetts 2115, USA.
Scott T WeissChanning Division of Network Medicine, Harvard Medical School, Boston, Massachusetts 2115, USA.
L Keoki Williams1] Center for Health Policy and Health Services Research, Henry Ford Health System, Detroit, Michigan 48202, USA [2] Department of Internal Medicine, Henry Ford Health System, Detroit, Michigan 48202, USA.
Stephanie J LondonDivision of Intramural Research, Department of Health and Human Services, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.
Frank D GillilandDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Dan L Nicolae1] Department of Human Genetics, University of Chicago, 920 East 58th Street, CLSC 425, Chicago, Illinois 60637, USA [2] Departments of Medicine and Statistics, University of Chicago, Chicago, Illinois 60637, USA.
Carole OberDepartment of Human Genetics, University of Chicago, 920 East 58th Street, CLSC 425, Chicago, Illinois 60637, USA.
University of Chicago · USUniversity of California, San Francisco · USUniversity of Southern California · USJohns Hopkins University · USUniversity of Wisconsin–Madison · USHarvard University · USHenry Ford Health System · USNational Institute of Environmental Health Sciences · USUniversity of Arizona · USCentre International de Recherche sur le Cancer · FRHospital Infantil de México Federico Gómez · MXNational Institutes of Health · USUniversity of Michigan–Ann Arbor · US
Funding
Translational Research Support CoreP30ES007048 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Joseph Leo Wiemels · 1996 to 2026
$46.4MSOUTHWEST ENVIRONMENTAL HEALTH SCIENCES CENTERP30ES006694 · NIEHS · UNIVERSITY OF ARIZONA · PI DEAN BILLHEIMER · 1994 to 2026
$36.7MInstitutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2MVirus-Bacterial Interactions and Exacerba of AsthmaP01HL070831 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI GERN, JAMES E. · 2002 to 2017
$31.3MUrban Air Pollution and Children's Respiratory HealthP01ES011627 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI AVOL, EDWARD · 2002 to 2011
$30.2MRe-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2MPREDOCTORAL TRAINING IN GENETICS AND REGULATIONT32GM007197 · NIGMS · UNIVERSITY OF CHICAGO · PI ROTHMAN-DENES, LUCIA B. B · 1985 to 2020
$17.0MRegulation and expression of HLA-G in asthmatic airwaysU19AI095230 · NIAID · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2011 to 2016
$10.5MThe EVE Asthma Genetics Consortium: Building Upon GWASRC2HL101651 · NHLBI · UNIVERSITY OF CHICAGO · PI NICOLAE, DAN LIVIU, OBER, CAROLE · 2009 to 2010
$7.4MBeagle: A Supercomputer for Computational Biology, Simulation, and Data AnalysisS10RR029030 · NCRR · UNIVERSITY OF CHICAGO · PI FOSTER, IAN · 2010 to 2010
$7.0MUrban Air Pollution &Persistent Early Life AsthmaP01ES009581 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GILLILAND, FRANK D. · 1999 to 2010
$6.8MGenetic And Environmental Factors In Childhood Respiratory HealthZIAES049019 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI LONDON, STEPHANIE · 2009 to 2025
$6.8MIntramural NIH HHS Z01 CP010119Intramural NIH HHS Z01 ES049030NCATS NIH HHS KL2 TR000428NCATS NIH HHS UL1 TR000427NCATS NIH HHS UL1 TR000430NCRR NIH HHS S10 RR029030NCRR NIH HHS S10 RR029030-01NHLBI NIH HHS F32 HL010165NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS P01 HL070831NHLBI NIH HHS R01 HL118267NHLBI NIH HHS RC2 HL10165NHLBI NIH HHS RC2 HL101651NIAID NIH HHS R01 AI079139NIAID NIH HHS U19 AI095230NIEHS NIH HHS ES102385NIEHS NIH HHS P01 ES009581NIEHS NIH HHS P01ES009581NIEHS NIH HHS P0 1ES01162NIEHS NIH HHS P01 ES011627NIEHS NIH HHS P30 ES006694NIEHS NIH HHS P30 ES007048NIEHS NIH HHS P30ES007048NIGMS NIH HHS T32 GM007197World Health Organization 001
Abstract
Common variants at many loci have been robustly associated with asthma but explain little of the overall genetic risk. Here we investigate the role of rare (<1%) and low-frequency (1-5%) variants using the Illumina HumanExome BeadChip array in 4,794 asthma cases, 4,707 non-asthmatic controls and 590 case-parent trios representing European Americans, African Americans/African Caribbeans and Latinos. Our study reveals one low-frequency missense mutation in the GRASP gene that is associated with asthma in the Latino sample (P=4.31 × 10(-6); OR=1.25; MAF=1.21%) and two genes harbouring functional variants that are associated with asthma in a gene-based analysis: GSDMB at the 17q12-21 asthma locus in the Latino and combined samples (P=7.81 × 10(-8) and 4.09 × 10(-8), respectively) and MTHFR in the African ancestry sample (P=1.72 × 10(-6)). Our results suggest that associations with rare and low-frequency variants are ethnic specific and not likely to explain a significant proportion of the 'missing heritability' of asthma.
Indexed as
AsthmaCarrier ProteinsFemaleGasderminsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLinkage DisequilibriumMaleMembrane ProteinsNeoplasm ProteinsCarrier ProteinsGasderminsGSDMB protein, humanMembrane ProteinsNeoplasm Proteinstamalin protein, human
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