Evidence map›Paper›PMID 38741015›Full record

ArticleNature genetics2024

Genetic mapping across autoimmune diseases reveals shared associations and mechanisms.

Matthew R Lincoln, Noah Connally, Pierre-Paul Axisa, Christiane Gasperi, Mitja Mitrovic, David van Heel, Cisca Wijmenga, Sebo Withoff, Iris H Jonkers, Leonid Padyukov and 10 more

Abstract read
In one paragraph

Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
–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

23 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Autoimmune Disease is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025
    Article
  16. Article
  17. Review
  18. Is DEXI a Multiple Sclerosis Susceptibility Gene?International journal of molecular sciences · 2025
    Review
  19. Article
  20. Article
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

20 authors.

Matthew R LincolnDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-2962-6253
Noah ConnallyDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.
Pierre-Paul AxisaDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.
Christiane GasperiDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-0524-6005
Mitja MitrovicDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.
David van HeelBlizard Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-0637-2265
Cisca WijmengaDepartment of Genetics at the University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Sebo WithoffDepartment of Genetics at the University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-7704-3437
Iris H JonkersDepartment of Genetics at the University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0003-2304-7939
Leonid PadyukovDivision of Rheumatology at the Department of Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-2950-5670
International Multiple Sclerosis Genetics Consortium
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.ORCID http://orcid.org/0000-0003-3872-7793
Robert R GrahamMaze Therapeutics, South San Francisco, CA, USA.ORCID http://orcid.org/0000-0001-7151-4277
Patrick M GaffneyGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Carl D LangefeldDepartment of Biostatistics and Data Science, Wake Forest School of Medicine, Winston-Salem, NC, USA.ORCID http://orcid.org/0000-0002-4266-6949
Timothy J VyseDepartment of Medical and Molecular Genetics, Kings College London, London, UK.
David A HaflerDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-4664-535X
Sung ChunDivision of Genetics, Brigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3440-1913
Shamil R SunyaevDivision of Genetics, Brigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5715-5677
Chris CotsapasDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA. cotsapas@gmail.com.ORCID http://orcid.org/0000-0002-7772-5910

Funding

Type 1 Diabetes Genetics ConsortiumU01DK062418 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI RICH, STEPHEN S. · 2002 to 2007
$59.8M
Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
The Role of B cells in the Origin and Progression of Multiple SclerosisR35NS111644 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STEPHEN L HAUSER · 2019 to 2026
$9.1M
The origin, the function and the phenotypic impact of human allelesR35GM127131 · NIGMS · HARVARD MEDICAL SCHOOL · PI SHAMIL SUNYAEV · 2018 to 2026
$8.1M
Predicting the impact of genetic variants, genes and pathways on human DiseaseU01HG012009 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ALKES L PRICE, Soumya Raychaudhuri · 2021 to 2026
$4.2M
Genomics of NFκB-mediated gene regulation in multiple sclerosisR01AI122220 · NIAID · YALE UNIVERSITY · PI COTSAPAS, CHRIS · 2016 to 2019
$2.9M
NHGRI NIH HHS U01 HG012009NIAID NIH HHS R01 AI122220NIAMS NIH HHS N01 AR062277NIDDK NIH HHS U01 DK062418NIMH NIH HHS R01 MH101244NINDS NIH HHS R35 NS111644U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) 5U01HG012009U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) 5R35GM127131U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) 2R01MH101244Wellcome Trust 210561/Z/18/Z
6 · The paper itself

Abstract

Autoimmune and inflammatory diseases are polygenic disorders of the immune system. Many genomic loci harbor risk alleles for several diseases, but the limited resolution of genetic mapping prevents determining whether the same allele is responsible, indicating a shared underlying mechanism. Here, using a collection of 129,058 cases and controls across 6 diseases, we show that ~40% of overlapping associations are due to the same allele. We improve fine-mapping resolution for shared alleles twofold by combining cases and controls across diseases, allowing us to identify more expression quantitative trait loci driven by the shared alleles. The patterns indicate widespread sharing of pathogenic mechanisms but not a single global autoimmune mechanism. Our approach can be applied to any set of traits and is particularly valuable as sample collections become depleted.

Indexed as

AllelesAutoimmune DiseasesChromosome MappingGenetic Predisposition to DiseaseQuantitative Trait LociCase-Control StudiesGenome-Wide Association StudyHumansMultifactorial InheritancePolymorphism, Single Nucleotide

Identifiers

PMID38741015
PMCPMC13095137

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.