The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
Open accessAbstract
Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 × 10−8), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target genes provide an opportunity for drug repositioning, while for 36 genes CpG methylation was found to influence transcription independently of genetic effects. Asthma, hay fever and eczema partly coexist because they share many genetic risk variants that dysregulate the expression of immune-related genes.
Overview
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
Cites
Statistics
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The main epigenetic studies in AD are related to the DNA methylation of two genes, NLRP2 (involved in macrophage activity) and PITPNM2 (related to neutrophils), both associated with smoking.”
From Update on the pathogenesis of atopic dermatitis. (2024) · cites this paper as [41]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Also, the association of eczema herpeticum and serum IgE levels with methylation in the IL-4 and IL-13 genes.”
From Update on the pathogenesis of atopic dermatitis. (2024) · cites this paper as [41]
Experimental — accuracy not yet measuredIn the citing paper
“Although little is known about FAM105A function, GWAS of allergic diseases implicates a credible missense risk variant in this gene (Ferreira et al., 2017).”
From Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key Regulators of Immune Function (2018) · cites this paper as Ferreira et al., 2017
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Self-citationLD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205
Self-citationThe Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062
Super-enhancers in the control of cell identity and disease
Hnisz, D., Abraham, B. J., Lee, T. I., Lau, A., Saint-André, V., Sigova, A. A., Hoke, H. A., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.09.053 · Cited by 3,662 · cited 1×
“…(based on 5C34, promoter capture Hi-C35, ChIA-PET36 or in situ Hi-C37 data), but also an association between variation in enhancer epigenetic marks and variation in gene transcription levels (based on PreSTIGE38, H3K27ac enhancer and super-enhancer annotation 39, IM-PET40 or FANTOM541 analyses).”
Atopic Dermatitis: Global Epidemiology and Risk Factors
Nutten, S. (2015) · Annals of Nutrition and Metabolism · doi:10.1159/000370220 · Cited by 3,124
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707
Partitioning heritability by functional annotation using genome-wide association summary statistics
ReproGen Consortium, Finucane, H. K., Schizophrenia Working Group of the Psychiatric Genomics Consortium, The RACI Consortium, Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.-R., Anttila, V., et al. (2015) · Nature Genetics · doi:10.1038/ng.3404 · Cited by 2,604
An atlas of active enhancers across human cell types and tissues
The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature · doi:10.1038/nature12787 · Cited by 2,550
Flagged first, then by citations
Cited by
Sorted by citations
Weidinger, S., Beck, L. A., Bieber, T., Kabashima, K., & Irvine, A. D. (2018) · Nature Reviews Disease Primers · doi:10.1038/s41572-018-0001-z · Cited by 1,549
Self-citationComplex genetic signatures in immune cells underlie autoimmunity and inform therapy
Orrù, V., Steri, M., Sidore, C., Marongiu, M., Serra, V., Olla, S., Sole, G., Lai, S., Dei, M., Mulas, A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0684-4 · Cited by 1,246
Self-citationBousquet, J., Antó, J. M., Bachert, C., Baiardini, I., Bosnic-Anticevich, S. Z., Canonica, G. W., Melén, E., Palomares, Ó., Scadding, G. K., Togias, A. G., et al. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-00227-0 · Cited by 1,018
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
Nielsen, J. B., Thorolfsdottir, R. B., Fritsche, L. G., Zhou, W., Skov, M. W., Graham, S. E., Herron, T. J., McCarthy, S., Schmidt, E. M., Sveinbjornsson, G., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0171-3 · Cited by 876
Self-citationRevisiting IL-2: Biology and therapeutic prospects
Abbas, A. K., Trotta, E., Simeonov, D. R., Marson, A., & Bluestone, J. A. (2018) · Science Immunology · doi:10.1126/sciimmunol.aat1482 · Cited by 649
Metadata
- Authors
- 23andMe Research Team, Ferreira, M. A., collaborators, A., BIOS consortium, Study, L. C., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J. D., Helmer, Q., Tillander, A., Ullemar, V., van Dongen, J., Lu, Y., Rüschendorf, F., Esparza-Gordillo, J., Medway, C. W., Mountjoy, E., Burrows, K., Hummel, O., Grosche, S., Brumpton, B. M., Witte, J. S., Hottenga, J.-J., Willemsen, G., Zheng, J., Rodríguez, E., Hotze, M., Franke, A., Revez, J. A., Beesley, J., Matheson, M. C., Dharmage, S. C., Bain, L. M., Fritsche, L. G., Gabrielsen, M. E., Balliu, B., Nielsen, J. B., Zhou, W., Hveem, K., Langhammer, A., Holmen, O. L., Løset, M., Abecasis, G. R., Willer, C. J., Arnold, A., Homuth, G., Schmidt, C. O., Thompson, P. J., Martin, N. G., Duffy, D. L., Novak, N., Schulz, H., Karrasch, S., Gieger, C., Strauch, K., Melles, R. B., Hinds, D. A., Hübner, N., Weidinger, S., Magnusson, P. K. E., Jansen, R., Jorgenson, E., Lee, Y.-A., Boomsma, D. I., Almqvist, C., Karlsson, R., Koppelman, G. H., & Paternoster, L.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- University Medical Center Groningen (NL)
- University Hospital Schleswig-Holstein (DE)
- 23andMe (United States) (US)
- University of California, San Francisco (US)
- Karolinska Institutet (SE)
- Max Delbrück Center (DE)
- University of Bristol (GB)
- Norwegian University of Science and Technology (NO)
- Christian-Albrechts-Universität zu Kiel (DE)
- The University of Melbourne (AU)
- University of Michigan (US)
- Universitätsmedizin Greifswald (DE)
- The University of Western Australia (AU)
- University Hospital Bonn (DE)
- Helmholtz Munich (DE)
- Kaiser Permanente (US)
- Karolinska University Hospital (SE)
- Corresponding author
- Ferreira, Manuel A
- ORCID
- Ferreira, Manuel A
- Vonk, Judith M
- Baurecht, Hansjörg
- Marenholz, Ingo
- Tian, Chao
- Hoffman, Joshua D
- Tillander, Annika
- Ullemar, Vilhelmina
- Lu, Yi
- Rüschendorf, Franz
- Mountjoy, Edward
- Burrows, Kimberley
- Hummel, Oliver
- Grosche, Sarah
- Brumpton, Ben M
- Witte, John S
- Hottenga, Jouke-Jan
- Willemsen, Gonneke
- Zheng, Jie
- Rodríguez, Elke
- Franke, Andre
- Revez, Joana A
- Matheson, Melanie C
- Dharmage, Shyamali C
- Fritsche, Lars G
- Gabrielsen, Maiken E
- Balliu, Brunilda
- Nielsen, Jonas B
- Zhou, Wei
- Hveem, Kristian
- Langhammer, Arnulf
- Løset, Mari
- Abecasis, Gonçalo R
- Willer, Cristen J
- Arnold, Andreas
- Homuth, Georg
- Schmidt, Carsten O
- Thompson, Philip J
- Martin, Nicholas G
- Duffy, David L
- Novak, Natalija
- Schulz, Holger
- Karrasch, Stefan
- Gieger, Christian
- Strauch, Konstantin
- Melles, Ronald B
- Hinds, David A
- Hübner, Norbert
- Weidinger, Stephan
- Magnusson, Patrik K E
- Jansen, Rick
- Jorgenson, Eric
- Lee, Young-Ae
- Boomsma, Dorret I
- Almqvist, Catarina
- Karlsson, Robert
- Koppelman, Gerard H
- Paternoster, Lavinia
- Venue
- Nature Genetics
- Published
- 2017-10-30
- Volume
- 49
- Issue
- 12
- Pages
- 1752-1757
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5989923
- OpenAlex
- W2765256236
- Semantic Scholar
- 08c8383033e73b5aa7bee3306e4e91cbd16ae672
- Cited by
- 550
- References
- 51
- Citations by year
- 2026: 44 · 2025: 45 · 2024: 61 · 2023: 62 · 2022: 77 · 2021: 74 · 2020: 78 · 2019: 70 · 2018: 35 · 2017: 3
- FWCI
- 37.65
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion, other-oa)
- Explore Bristol Research (publishedVersion, other-oa)
- VU Research Portal (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Bristol Research (University of Bristol) (submittedVersion, other-oa)
- UWA Profiles and Research Repository (UWA) (submittedVersion, other-oa)
- MDC Repository (Max-Delbrueck-Center for Molecular Medicine) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Site cant be reached (submittedVersion, other-oa)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Norges Teknisk-Naturvitenskapelige Universitet
- Wellcome Trust (102215)
- QIMR Berghofer Medical Research Institute
- University of Bristol
- Rijksuniversiteit Groningen
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (480-15-001)
- Lundbeckfonden (R220-2016-1434)
- Karolinska Institutet
- Universitair Medisch Centrum Groningen
- St. Olavs Hospital Universitetssykehuset i Trondheim
- Medical Research Council (MR/J012165/1, MC_PC_12028)
- National Cancer Institute (R25CA112355)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Asthma and respiratory diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
- Keywords
- asthma, allergic rhinitis, atopic dermatitis, allergic diseases, genetic susceptibility loci, immune gene expression, lymphocyte-mediated immunity, drug repurposing, CpG methylation, transcriptional regulation
- MeSH terms
- Asthma, Eczema, Rhinitis, Allergic, Seasonal, Humans, Hypersensitivity, Phenotype, Risk Factors, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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
