Evidence map›Paper›PMID 42064923›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Multi-Ancestry Epigenome-Wide Meta-Analysis Identifies Novel Bulk and Cell-Type-Specific Epigenetic Markers of Asthma with Severe Exacerbations.

Javier Perez-Garcia, Elena Martin-Gonzalez, Zeyuan Johnson Chen, Mario Martin-Almeida, Jonathan Witonsky, Aditya Gorla, Celeste Eng, Fabian Lorenzo-Diaz, Anne K Bozack, Jennifer R Elhawary and 18 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors.

Javier Perez-GarciaGenomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), La Laguna, Spain.ORCID 0000-0001-7813-4381
Elena Martin-GonzalezGenomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), La Laguna, Spain.ORCID 0000-0002-3522-3103
Zeyuan Johnson ChenDepartment of Computer Science, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-9564-6271
Mario Martin-AlmeidaGenomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), La Laguna, Spain.ORCID 0009-0000-2953-4784
Jonathan WitonskyDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0001-8264-0244
Aditya GorlaBioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0003-0849-7894
Celeste EngDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Fabian Lorenzo-DiazGenomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), La Laguna, Spain.ORCID 0000-0002-3398-198X
Anne K BozackNYU Grossman School of Medicine, Department of Population Health, New York, NY, USA.ORCID 0000-0003-0046-5767
Jennifer R ElhawaryDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-3326-1680
Donglei HuDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Scott HuntsmanDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Ruperto González-PérezSevere Asthma Unit, Allergy Department, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.ORCID 0000-0002-6664-0276
José M Hernández-PérezPulmonary Medicine Service, Hospital Universitario de N.S. de Candelaria, La Laguna, Tenerife, Spain.ORCID 0000-0002-2920-212X
Paloma Poza-GuedesSevere Asthma Unit, Allergy Department, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.ORCID 0000-0001-8516-6648
Elena Mederos-LuisAllergy Department, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.ORCID 0000-0001-5298-6447
Inmaculada Sánchez-MachínAllergy Department, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.
Jose Rodriguez-SantanaCentro de Neumología Pediátrica, San Juan, Puerto Rico.
Jesús VillarCIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
Sheryl L Rifas-ShimanDivision of Chronic Disease Research Across the Lifecourse, Department of Population Medicine, Harvard Medical School, and Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Marie-France HivertDivision of Chronic Disease Research Across the Lifecourse, Department of Population Medicine, Harvard Medical School, and Harvard Pilgrim Health Care Institute, Boston, MA, USA.ORCID 0000-0001-7752-2585
Emily OkenDivision of Chronic Disease Research Across the Lifecourse, Department of Population Medicine, Harvard Medical School, and Harvard Pilgrim Health Care Institute, Boston, MA, USA.ORCID 0000-0003-2513-3339
Diane R GoldDepartment of Environmental Health, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
Elad ZivHelen Diller Family Comprehensive Cancer Center, Center for Genes, Environment and Health, and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-2324-2884
Elior RahmaniDivision of Computational Medicine, Department of Medicine, Stanford University, Stanford, CA, USA.ORCID 0000-0002-9017-2070
Esteban G BurchardDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0001-7475-2035
Andres CardenasDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0003-2284-3298
Maria Pino-YanesGenomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), La Laguna, Spain.ORCID 0000-0003-0332-437X

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 CoreP30ES000002 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI JAIME ELIZABETH HART · 1985 to 2026
$44.6M
Prenatal environmental determinants of health in young adulthood: a lifecourse approachR01HD034568 · NICHD · HARVARD PILGRIM HEALTH CARE, INC. · PI Marie-France Hivert, Emily Oken · 1998 to 2026
$20.6M
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
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
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
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
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Transcriptomic and Pharmacogenetic Asthma Endotypes in Minority ChildrenR01HL135156 · NHLBI · NATIONAL JEWISH HEALTH · PI SEIBOLD, MAX A, ZIV, ELAD · 2017 to 2021
$4.1M
The Fetal and Childhood Environment, Oxidative Balance, Inflammation and AsthmaR01AI102960 · NIAID · BRIGHAM AND WOMEN'S HOSPITAL · PI GOLD, DIANE R, OKEN, EMILY · 2013 to 2017
$4.0M
Genes, air pollution, and asthma severity in minority childrenR01MD010443 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SEIBOLD, MAX A, ZIV, ELAD · 2016 to 2020
$3.8M
NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG008901NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL117004NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL128439NHLBI NIH HHS R01 HL135156NHLBI NIH HHS R01 HL155024NHLBI NIH HHS U01 HL120393NIAID NIH HHS R01 AI102960NICHD NIH HHS R01 HD034568NIEHS NIH HHS HHSN268201600032CNIEHS NIH HHS P30 ES000002NIEHS NIH HHS R01 ES015794NIEHS NIH HHS R01 ES031259NIEHS NIH HHS R21 ES024844NIEHS NIH HHS R24 ES030894NIMHD NIH HHS R01 MD010443NIMHD NIH HHS R56 MD013312
6 · The paper itself

Abstract

Background: Extreme-phenotype comparisons allowed the discovery of novel asthma genetic risk loci. However, this approach remains unexplored in epigenome-wide association studies (EWAS). We aimed to identify bulk and cell-specific methylation markers of asthma with severe exacerbations across diverse ancestry groups. Methods: We conducted a meta-EWAS of 739,543 CpGs in whole blood among 1,192 African American and Latino pediatric populations, comparing non-asthmatics and asthma exacerbators. Genome-wide CpGs were followed up for replication in a meta-analysis across 1,516 ethnically diverse participants and in a cross-tissue evaluation of 393 nasal samples. We conducted differentially methylated region (DMRs), cell-type-deconvoluted, and quantitative trait loci analyses (whole-genome sequencing n=1,668; RNA-seq n=1,209). We examined enrichment in traits, pathways, and druggable genes, and analyzed DNAm predictors of plasma proteins and aging. Results: DNAm at 505 CpGs and 119 DMRs in whole blood were associated with asthma exacerbations ( Conclusions: The first meta-EWAS of extreme asthma phenotypes identified hundreds of novel DNAm markers, suggesting novel methylation biomarkers and candidate drugs for asthma and supporting the role of T cells.

Indexed as

asthmaepigeneticsEWASexacerbationsmethylation

Identifiers

PMID42064923
PMCPMC13127548

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.