Cited by 200Asthma and respiratory diseasesEpigenetics and DNA MethylationGenetic Associations and Epidemiology

The DOI matches its Crossref record; 55 of the 55 references it cites were found in a registry or an index.

DNA methylation in lung cells is associated with asthma endotypes and genetic risk

Open access

Nicodemus-Johnson, Jessie, Myers, Rachel A., Sakabe, Noburu J., Sobreira, Debora R., Hogarth, Douglas K., Naureckas, Edward T., Sperling, Anne I., Solway, Julian, White, Steven R., Nobrega, Marcelo A., Nicolae, Dan L., Gilad, Yoav, Ober, Carole·2016·JCI Insight

DOI 10.1172/jci.insight.90151PMC PMC5139904

Open this paper in CoChat — free account Open PDF

Abstract

The epigenome provides a substrate through which environmental exposures can exert their effects on gene expression and disease risk, but the relative importance of epigenetic variation on human disease onset and progression is poorly characterized. Asthma is a heterogeneous disease of the airways, for which both onset and clinical course result from interactions between host genotype and environmental exposures, yet little is known about the molecular mechanisms for these interactions. We assessed genome-wide DNA methylation using the Infinium Human Methylation 450K Bead Chip and characterized the transcriptome by RNA sequencing in primary airway epithelial cells from 74 asthmatic and 41 nonasthmatic adults. Asthma status was based on doctor’s diagnosis and current medication use. Genotyping was performed using various Illumina platforms. Our study revealed a regulatory locus on chromosome 17q12-21 associated with asthma risk and epigenetic signatures of specific asthma endotypes and molecular networks. Overall, these data support a central role for DNA methylation in lung cells, which promotes distinct molecular pathways of asthma pathogenesis and modulates the effects of genetic variation on disease risk and clinical heterogeneity.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1172/jci.insight.90151

Cites

55 of 55 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

BEDTools: a flexible suite of utilities for comparing genomic features
Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities
Heinz, S., Benner, C., Spann, N., Bertolino, E., Lin, Y. C., Laslo, P., Cheng, J. X., Murre, C., Singh, H., & Glass, C. K. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.05.004 · Cited by 13,382
Linear Models and Empirical Bayes Methods for Assessing Differential Expression in Microarray Experiments
Smyth, G. K. (2004) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1027 · Cited by 11,829
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
Rao, S. S. P., Huntley, M. H., Durand, N. C., Stamenova, E. K., Bochkov, I. D., Robinson, J. T., Sanborn, A. L., Machol, I., Omer, A. D., Lander, E. S., et al. (2014) · Cell · doi:10.1016/j.cell.2014.11.021 · Cited by 9,212
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
O'Leary, N. A., Wright, M. W., Brister, J. R., Ciufo, S., Haddad, D., McVeigh, R., Rajput, B., Robbertse, B., Smith-White, B., Ako-Adjei, D., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1189 · Cited by 6,357
A General Framework for Weighted Gene Co-Expression Network Analysis
Zhang, B., & Horvath, S. (2005) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1128 · Cited by 5,684

Show all 55 references

Research works printed but not linked: 1

10.1164/rccm.201506-1243OC · DOI

Sorted by citations

Items 101–200 of 200

GLCCI1 gene body methylation in peripheral blood is associated with asthma and asthma severity
Jiang, Y., Xun, Q., Wan, R., Deng, S., Hu, X., Luo, L., Li, X., & Feng, J. (2021) · Clinica Chimica Acta · doi:10.1016/j.cca.2021.09.006 · Cited by 9
Progresses in epigenetic studies of asthma from the perspective of high-throughput analysis technologies: a narrative review
Zhang, T., Huang, P., & Qiu, C. (2022) · Annals of Translational Medicine · doi:10.21037/atm-22-929 · Cited by 9
Development and validation of an RNA-seq-based transcriptomic risk score for asthma
Cao, X., Ding, L., & Baye, T. M. (2022) · Scientific Reports · doi:10.1038/s41598-022-12199-0 · Cited by 9
CimpleG: finding simple CpG methylation signatures
Maié, T., Schmidt, M., Erz, M., Wagner, W., & Costa, I. G. (2023) · Genome biology · doi:10.1186/s13059-023-03000-0 · Cited by 9
The ERBB2 Exonic Variant Pro1170Ala Modulates Mitogen-Activated Protein Kinase Signaling Cascades and Associates with Allergic Asthma
Sio, Y. Y., Gan, W. L., Ng, W. S., Matta, S. A., Say, Y., Teh, K. F., Wong, Y. R., Shah, S. M. R., Reginald, K., & Chew, F. T. (2023) · International Archives of Allergy and Immunology · doi:10.1159/000530960 · Cited by 8
COL4A3expression in asthmatic epithelium depends on intronic methylation and ZNF263 binding
Nemani, S. S. P., Vermeulen, C. J., Pech, M., Faiz, A., Oliver, B. G. G., van den Berge, M., Burgess, J. K., Kopp, M., & Weckmann, M. (2021) · ERJ Open Research · doi:10.1183/23120541.00802-2020 · Cited by 8
Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions
Mozaffari, S. V., Stein, M. M., Magnaye, K. M., Nicolae, D. L., & Ober, C. (2018) · PLoS ONE · doi:10.1371/journal.pone.0203906 · Cited by 8
Self-citation
Leveraging genomics to uncover the genetic, environmental and age-related factors leading to asthma
Modena, B. D., Doroudchi, A., Patel, P. C., & Sathish, V. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-801496-7.00018-6 · Cited by 11
Genetic contributions to epigenetic-defined endotypes of allergic phenotypes in children
Thompson, E. E., Zhong, X., Carbonetto, P. S., Morin, A., Willwerscheid, J., Visness, C. M., Bacharier, L. B., Kattan, M., O’Connor, G. T., Rivera‐Spoljaric, K., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.05.006 · Cited by 7
Self-citation
Unmasking Pediatric Asthma: Epigenetic Fingerprints and Markers of Respiratory Infections
Pandolfo, A., Gagliardo, R. P., Lazzara, V., Perri, A., Malizia, V., Ferrante, G., Licari, A., Grutta, S. L., & Albano, G. D. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26157629 · Cited by 7
A Methylation Diagnostic Model Based on Random Forests and Neural Networks for Asthma Identification
Li, D.-D., Chen, T., Ling, Y.-L., Jiang, Y., & Li, Q.-G. (2022) · Computational and Mathematical Methods in Medicine · doi:10.1155/2022/2679050 · Cited by 7
Developmental air pollution exposure augments airway hyperreactivity, alters transcriptome, and DNA methylation in female adult progeny
Zakarya, R., Chan, Y. L., Wang, B., Thorpe, A., Idrees, S., Boedijono, F. S., Faiz, A., Hansbro, P. M., Xenaki, D., Ho, K., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-07835-0 · Cited by 6
Improvements in lung function following vitamin C supplementation to pregnant smokers are associated with buccal DNA methylation at 5 years of age
Shorey‐Kendrick, L. E., McEvoy, C. T., Milner, K. F., Harris, J., Brownsberger, J., Tepper, R. S., Park, B. S., Gao, L., Vu, A., Morris, C. D., et al. (2024) · Clinical Epigenetics · doi:10.1186/s13148-024-01644-8 · Cited by 6
Epigenome‐Wide Association Study of Asthma Exacerbations in Europeans
Martín-González, E., Pérez-García, J., Luis, E. H., Martin‐Almeida, M., Merid, S. K., Hernandez‐Pacheco, N., Lorenzo-Díaz, F., González‐Pérez, R., Sardón‐Prado, O., Pérez, J. M. H., et al. (2025) · Allergy · doi:10.1111/all.16490 · Cited by 6
Real-time imaging of asthmatic epithelial cells identifies migratory deficiencies under type-2 conditions
Jin, M., Watkins, S. C., Larriba, Y., Wallace, C. T., Croix, C. M. S., Zhou, X., Zhao, J., Peddada, S., & Wenzel, S. E. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.08.027 · Cited by 6
Transcriptomic and methylomic features in asthmatic and nonasthmatic twins
Dhondalay, G. K., Bunning, B., Bauer, R. N., Barnathan, E. S., Maniscalco, C., Baribaud, F., Nadeau, K. C., & Andorf, S. (2019) · Allergy · doi:10.1111/all.14128 · Cited by 6
Multi-omics co-localization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locusPreprint
Soliai, M. M., Kato, A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Kern, R. C., Tan, B. K., Schleimer, R. P., Nicolae, D. L., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/593558 · Cited by 6
Self-citation
Airway epithelial barrier integrity: an emerging treatable trait in asthma management
Jeseňák, M., Bobčáková, A., Golebski, K., Krohn, I. K., Seys, S., Rennerová, Z., Ďurdík, P., Tufvesson, E., Markocsy, A., Kosturiak, R., et al. (2025) · Respiratory Medicine · doi:10.1016/j.rmed.2025.108579 · Cited by 5
PGAP3 is expressed at increased levels in asthmatic ASM and is associated with increased ASM proliferation, contractility and expression of GATA3 and ALOX5
Leslie, E., Miller, M., Lafuze, A., Svyatskaya, S., Choi, G., Kennedy, J. L., Huang, Y.-A., Doherty, T. A., & Broide, D. H. (2025) · PLoS ONE · doi:10.1371/journal.pone.0320427 · Cited by 5
Epigenetics of Allergic Diseases Allergies, Eczema, Asthma, and Rhinitis
Karmaus, W., Ziyab, A. H., & Mukherjee, N. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-812215-0.00019-4 · Cited by 5
Diversity and the Splice of Life: Mapping the 17q12–21.1 Locus for Variants Associated with Early-Onset Asthma in African American Individuals
Raby, B. A., & Weiss, S. T. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202010-3802ed · Cited by 5
Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J. (2024) · Genome biology · doi:10.1186/s13059-024-03331-6 · Cited by 4
Association of exposure to second-hand smoke during childhood with blood DNA methylation
Cosín‐Tomás, M., Hoang, T. T., Qi, C., Monasso, G. S., Langdon, R., Merid, S. K., Calas, L., de Prado-Bert, P., Richmond, R. C., Jaddoe, V. V. W., et al. (2024) · Environment International · doi:10.1016/j.envint.2024.109204 · Cited by 4
PGAP3 regulates human bronchial epithelial cell mRNAs present in asthma and respiratory virus reference data setsPreprint
Leslie, E., Miller, M., Lafuze, A., Svyatskaya, S., Choi, G., & Broide, D. H. (2024) · medRxiv · doi:10.1101/2024.07.03.24309917 · Cited by 4
Immune Training of the Interleukin 6 Gene in Airway Epithelial Cells is Central to Asthma Exacerbations
Lunding, L. P., Weckmann, M., Zissler, U. M., Jakwerth, C. A., Bodenstein‐Sgró, R., Webering, S., Vock, C., Ehlers, J. C., Ceballos, R. A. M. F., Nemani, S. S. P., et al. (2025) · Allergy · doi:10.1111/all.70070 · Cited by 4
Self-citation
Type‐2‐Inflammatory‐Diseases Share Comorbidities, Molecular Signatures, IL4/IL13 Genetics, and Response to IL4/IL13 Blockade
Hamilton, J. D., Ferreira, M. A. R., Lim, W. K., Sidore, C., Wipperman, M. F., Ge, W., Song, X., Xia, C., Horowitz, J. E., Hooper, A. T., et al. (2026) · Allergy · doi:10.1111/all.70380 · Cited by 3
Mechanisms and therapeutic strategies of asthma: from bench to bedside
Xie, C., Wei, Y., Su, C., Yalikun, M., Chu, Y., Yu, H., Jin, M., Xu, W., Lin, J., & Dong, J. (2026) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-026-02853-8 · Cited by 4
The role of air pollution in fetal origins of childhood allergy: Challenges and opportunities
Deng, Q., Liu, L., Cheng, X., Xue, Y., Li, M., Liu, X., & Feng, F. (2023) · Current Opinion in Environmental Science & Health · doi:10.1016/j.coesh.2023.100474 · Cited by 3
Epigenetics and its role in development and regulation of allergy — a systematic review
Jain, S. K., Sharma, D., Singh, D. V. K., & Rani, D. R. (2025) · Russian Journal of Allergy · doi:10.36691/rja16998 · Cited by 2
Genetic and epigenetic links to asthma
Morin, A., Ober, C., & Schoettler, N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85419-1.00003-7 · Cited by 3
Self-citation
Extended lifespan of bronchial epithelial cells maintains normal cellular phenotype and transcriptome integrity
O’Loughlin, J., Hall, R. J., Bhaker, S. K., Portelli, M. A., Henry, A. P., Pang, V., Bates, D. O., Sharp, T. V., & Sayers, I. (2021) · ERJ Open Research · doi:10.1183/23120541.00254-2020 · Cited by 2
Association of placental weight and placental-fetal weight ratio with DNA methylation in placenta
Chatterjee, S., Wu, J., Ouidir, M., Grantz, K. L., & Ayele, F. T. (2025) · Epigenomics · doi:10.1080/17501911.2025.2510190 · Cited by 1
DNA methylation marker identification and poly-methylation risk score in prediction of healthspan termination
Yang, M., Wang, M., Zhao, X., Xu, F., Liang, S., Wang, Y., Wang, N., Sambou, M. L., Jiang, Y., & Dai, J. (2024) · Epigenomics · doi:10.2217/epi-2023-0343 · Cited by 1
Vitamin C supplementation to pregnant smokers alters asthma- and allergy-associated CpGs in child buccal DNA at 5 years of age
Shorey‐Kendrick, L. E., McEvoy, C. T., Milner, K. F., Harris, J., Brownsberger, J., Tepper, R. S., Park, B. S., Gao, L., Vu, A., Morris, C. D., et al. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01965-2 · Cited by 1
Self-citation
Recent Advancements in Pharmacogenomic Biomarkers for Asthma
Kuhikar, N., Duhijod, K. P., Thete, M., & Channe, K. (2026) · Research Journal of Pharmacology and Pharmacodynamics · doi:10.52711/2321-5836.2026.00001 · Cited by 1
Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma
Kim, S., Bohn, R. I. C., Sriram, A., Park, H. J., Huang, Z., Chen, W. C. W., & Celedon, J. C. (2026) · Science Advances · doi:10.1126/sciadv.ady3555 · Cited by 1
Epigenetics of T cell-mediated immunological responses
Biswas, B. K., & Goswami, R. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-823931-5.00007-4 · Cited by 1
Clinical significance of peripheral blood DDR1 and CtBP gene methylation detection in patients with acute pancreatitis
Ma, Z., Ma, X., Zhu, H., Cheng, L., Gou, L., & Zhang, D. (2024) · Epigenetics · doi:10.1080/15592294.2024.2421631 · Cited by 1
Differential DNA Methylation in Peripheral Blood Mononuclear Cells Reflects Asthma Control Status in Adults
An, J. Y., Park, J., Ra, A., Seo, S., Shin, E., Lee, J. E., Cho, Y. S., Won, S., & Kim, T. (2025) · Allergy · doi:10.1111/all.16566 · Cited by 1
Asthma Epigenetics: Elucidating an Expanding Paradigm
Miller, R. L., & Chen, J. (2022) · Springer eBooks · doi:10.1007/978-3-030-94475-9_16 · Cited by 1
GSDMA drives the most replicated association with asthma in naïve CD4 + T cellsPreprint
Madore, A., Pain, L., Boucher‐Lafleur, A., Meloche, J., Morin, A., Simon, M.-M., Ge, B., Kwan, T., Cheung, W., Pastinen, T., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/774760 · Cited by 1
The Role of Mnk-1, Eukaryotic Translation Initiation Factors and Translation Control in the Pathogenesis of Asthma
Khan, P., & Roth, M. (2017) · Journal of Cell Signaling · doi:10.4172/2576-1471.1000158
Epigenetics and Epigenomic Studies in Asthma
Ji, H. (2018) · Translational bioinformatics · doi:10.1007/978-981-10-8764-6_5
Epigenetic biomarkers of asthma and allergic disorders
Akhtari, M., & Mahmoudi, M. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-814259-2.00007-8 · Cited by 1
Epigenetic Trajectories to Childhood Asthma
DeVries, A. (2018) · UA Campus Repository (The University of Arizona)
AIM in Allergy
Wisgrill, L., Werner, P., Fortino, V., & Fyhrquist, N. (2021) · Springer eBooks · doi:10.1007/978-3-030-58080-3_90-1
Pet ownership in pregnancy and methylation pattern in cord blood
Danielewicz, H., Gurgul, A., Dębińska, A., Myszczyszyn, G., Szmatoła, T., Myszkal, A., Jasielczuk, I., Drabik-Chamerska, A., Hirnle, L., & Boznański, A. (2021) · Genes and Immunity · doi:10.1038/s41435-021-00151-7
Epigenetics and precision medicine in allergic diseases
Tost, J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823008-4.00019-6
Separating and reintegrating latent variables to improve classification of genomic data
Payne, N. Y., & Gagnon-Bartsch, J. A. (2021) · Biostatistics · doi:10.1093/biostatistics/kxab046 · Cited by 1
Chronic obstructive pulmonary disease and asthma
Riley, C. M., Bon, J. M., & Morris, A. M. (2021) · doi:10.1093/med/9780198816805.003.0061
AIM in Allergy
Wisgrill, L., Werner, P., Fortino, V., & Fyhrquist, N. (2022) · Springer eBooks · doi:10.1007/978-3-030-64573-1_90
Epigenetics of allergic diseases
Karmaus, W., Ziyab, A. H., & Mukherjee, N. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-21863-7.00002-0
RNA Sequencing Data with Machine Learning and Deep Learning Usage: A Methodological Study
ÖZTORNACI, R. O. (2024) · Turkiye Klinikleri Journal of Biostatistics · doi:10.5336/biostatic.2023-100186
Systems Biology in Immunotoxicology
Yücesoy, B., & Gallucci, R. M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95488-4.00046-2
Additional file 6 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780889
Self-citation
Additional file 7 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780895
Self-citation
Additional file 12 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780862
Self-citation
Additional file 10 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780853
Self-citation
Additional file 2 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780874
Self-citation
Additional file 3 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780877
Self-citation
Additional file 13 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780865
Self-citation
Additional file 4 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780880
Self-citation
Additional file 8 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780898
Self-citation
Additional file 5 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780883
Self-citation
Additional file 9 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780901
Self-citation
Asthma bronchiale: Therapie noch detaillierter durch Endotypisierung leiten
Heimel, V., & Schedel, M. (2024) · Deutsches Ärzteblatt · doi:10.3238/perspneumo.2024.08.23.01
The role of epigenetic mechanisms in lung diseases and environmental exposure
Zhu, T., Brown, A. P. C., Cheng, J., Islam, M., & Ji, H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-91824-4.00012-5
Aged mice-derived bronchial epithelial cells regulate Th17 cell differentiation in asthma via the MBD2-sICOSL axis
Chen, Z., Shang, Y., Yuan, Y., Ji, X., Gong, S., Zeng, Q., & Xiang, X. (2025) · Cellular Immunology · doi:10.1016/j.cellimm.2025.104954
DNA methylation of food sensitization in a French-Canadian population
Tremblay, B. L., Madore, A., & Laprise, C. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01951-8
Epigenetic patient stratification reveals a sub-endotype of type 2 asthma with altered B-cell responsePreprint
Gorla, A., Witonsky, J. I., Chen, Z. J., Elhawary, J. R., Mefford, J., Pérez-García, J., Madore, A., Huntsman, S., Hu, D., Eng, C. S., et al. (2025) · medRxiv · doi:10.1101/2025.08.28.25334696
Additional file 1 of Exploration of the sputum methylome and omics deconvolution by quadratic programming in molecular profiling of asthma and COPD: the road to sputum omics 2.0
Groth, E. E., Weber, M., Bahmer, T., Pedersen, F., Kirsten, A. M., Börnigen, D., Rabe, K. F., Watz, H., Ammerpohl, O., & Goldmann, T. (2020) · Figshare · doi:10.6084/m9.figshare.13115024
Additional file 1 of Genetic impacts on DNA methylation: research findings and future perspectives
Villicaña, S., & Bell, J. T. (2021) · Figshare · doi:10.6084/m9.figshare.14524594
Additional file 4 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777770
Additional file 2 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26768413
Additional file 1 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780868
Self-citation
Additional file 6 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777776
Additional file 14 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777800
Additional file 10 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777788
Additional file 15 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777803
Additional file 8 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777782
Additional file 2 of Improvements in lung function following vitamin C supplementation to pregnant smokers are associated with buccal DNA methylation at 5 years of age
Shorey‐Kendrick, L. E., McEvoy, C. T., Milner, K. F., Harris, J., Brownsberger, J., Tepper, R. S., Park, B., Gao, L., Vu, A., Morris, C. D., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25303186
Additional file 9 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777785
Additional file 13 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777797
Additional file 11 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777791
Additional file 1 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26768350
Additional file 3 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777767
Additional file 1 of Deconvolution of cellular subsets in human tissue based on targeted DNA methylation analysis at individual CpG sites
Schmidt, M., Maié, T., Dahl, E., Costa, I. G., & Wagner, W. (2020) · Figshare · doi:10.6084/m9.figshare.13285135
Additional file 1 of African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans
Washington, C., Dapas, M., Biddanda, A., Magnaye, K. M., Aneas, I., Helling, B. A., Szczesny, B., Boorgula, M. P., Taub, M. A., Kenny, E. E., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21251477
Self-citation
Additional file 11 of Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus
Soliai, M. M., Kato, A., Helling, B. A., Stanhope, C. T., Norton, J. E., Naughton, K. A., Klinger, A. I., Thompson, E. E., Clay, S. M., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16780859
Self-citation
Additional file 5 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777773
Additional file 7 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777779
Additional file 12 of Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Sprang, M., Möllmann, J. S., Andrade-Navarro, M. A., & Fontaine, J.-F. (2024) · Figshare · doi:10.6084/m9.figshare.26777794
Additional file 1 of Improvements in lung function following vitamin C supplementation to pregnant smokers are associated with buccal DNA methylation at 5 years of age
Shorey‐Kendrick, L. E., McEvoy, C. T., Milner, K. F., Harris, J., Brownsberger, J., Tepper, R. S., Park, B., Gao, L., Vu, A., Morris, C. D., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25302857
Asthma: Why Pharmacogenomics Cannot Deliver a Decisive Prognosis
Iwuh, D. (2026) · Journal of Pulmonology and Respiratory Research · doi:10.29328/journal.jprr.1001075
Cross‐Compartment Multimodal Analyses Reveal Differences in IL2‐STAT5 Signaling Associated With Asthma in Individuals From Diverse Backgrounds
Ni, D., & Nanan, R. K. H. (2026) · MedComm · doi:10.1002/mco2.70810
Pathway-level epigenetic modeling illuminates the methylation architecture to asthma risk across tissues
Huang, Z., Liu, Y., Cai, F., Zhu, J., Wang, S., Li, P., Zhang, S., Song, Z., Liu, W., Liu, H., et al. (2026) · Epigenetics & Chromatin · doi:10.1186/s13072-026-00685-y
Epigenetics in asthma: implications for treatable traits
Apollonatou, V., Vrouvaki, A., Christodoulou, M., Fengas, A., Loukides, S., & Fouka, E. (2026) · Frontiers in Allergy · doi:10.3389/falgy.2026.1929559
Posttraumatic Stress Disorder Epigenome-Wide Association Studies in the Million Veteran ProgramPreprint
Beck, S. L., Levey, D. F., Galimberti, M., Overstreet, C., Chen, J., Gupta, P., Dao, C., Lesch, B. J., Montalvo‐Ortiz, J. L., Harrington, K. M., et al. (2026) · medRxiv · doi:10.64898/2026.09.04.26362177
Asthma: From Phenotypes to Endotypes—Beyond Type 2 Inflammation
Fernando, M., & King, G. G. (2026) · Respirology · doi:10.1002/resp.70322
Sex-stratified and interaction multi-omics analysis of DNA methylation and gene expression in asthmaPreprint
Dessie, E. Y., Gautam, Y., Rosen, B. H., Mendy, A., Kang, M., & Baye, T. M. (2026) · medRxiv · doi:10.64898/2026.10.19.26365928

Authors: Nicodemus-Johnson, J., Myers, R. A., Sakabe, N. J., Sobreira, D. R., Hogarth, D. K., Naureckas, E. T., Sperling, A. I., Solway, J., White, S. R., Nobrega, M. A., Nicolae, D. L., Gilad, Y., & Ober, C.
Affiliations: Department of Human Genetics,
Department of Medicine, and
University of Chicago (US)
Corresponding author: Ober, Carole
ORCID: Myers, Rachel A.
Hogarth, Douglas K.
Naureckas, Edward T.
Sperling, Anne I.
Solway, Julian
White, Steven R.
Nicolae, Dan L.
Gilad, Yoav
Ober, Carole
Venue: JCI Insight
Publisher: American Society for Clinical Investigation
Published: 2016-12-08
Volume: 1
Issue: 20
Pages: e90151-e90151
ISSN: 2379-3708 (ISSN-L)
DOI: 10.1172/jci.insight.90151
PMC: PMC5139904
OpenAlex: W2560541504
Cited by: 180
References: 55
Citations by year: 2026: 11 · 2025: 15 · 2024: 23 · 2023: 13 · 2022: 18 · 2021: 29 · 2020: 28 · 2019: 23 · 2018: 18 · 2017: 2
FWCI: 11.54
Type: journal article
Language: en
Open access: gold
doi.org
Locations: JCI Insight (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: American Heart Association
AstraZeneca
University of Chicago
Cytokinetics
National Institutes of Health (U01 AI106683)
National Heart, Lung, and Blood Institute (P01HL070831, T32HL007605)
National Institute of Allergy and Infectious Diseases (AI106683, U19AI095230, P01AI106683, AI-095230)
Office of Research on Women's Health
Topics: Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Asthma and respiratory diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: asthma, DNA methylation, asthma endotypes, airway epithelial cells, epigenetics, genetic risk, host-environment interactions, asthma pathogenesis, transcriptome, lung cells
MeSH terms: Adult, Asthma, Epithelial Cells, Female, Humans, Lung, Male, Middle Aged, Gene Expression, Case-Control Studies, DNA Methylation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Epigenesis, Genetic, Transcriptome

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

DNA methylation in lung cells is associated with asthma endotypes and genetic risk

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks