Evidence map›Paper›PMID 21852963›Full record

SynthesisPLoS genetics2011

Pervasive sharing of genetic effects in autoimmune disease.

Chris Cotsapas, Benjamin F Voight, Elizabeth Rossin, Kasper Lage, Benjamin M Neale, Chris Wallace, Gonçalo R Abecasis, Jeffrey C Barrett, Timothy Behrens, Judy Cho and 14 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 319 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
319citing papers in PubMed, 9 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

319 citing papers in PubMed, 9 syntheses or guidelines pooled it.

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  18. The 2D:4D Digit Ratio and Primary Sjögren's Syndrome: A Window Into Prenatal Hormonal Influences on Exocrine Autoimmunity.American journal of human biology : the official journal of the Human Biology Council · 2026
    Article
  19. Article
  20. Review

259 more citing papers are in PubMed but not listed here.

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

24 authors.

Chris CotsapasCenter For Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
Benjamin F Voight
Elizabeth Rossin
Kasper Lage
Benjamin M Neale
Chris Wallace
Gonçalo R Abecasis
Jeffrey C Barrett
Timothy Behrens
Judy Cho
Philip L De Jager
James T Elder
Robert R Graham
Peter Gregersen
Lars Klareskog
Katherine A Siminovitch
David A van Heel
Cisca Wijmenga
Jane Worthington
John A Todd
David A Hafler
Stephen S Rich
Mark J Daly
FOCiS Network of Consortia

Funding

Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0M
Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI RAYMOND T CHUNG · 1991 to 2026
$35.3M
Linkage analysis of familial psoriasis(Supplement)R01AR042742 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 1994 to 2021
$10.1M
Identification of Psoriatic Arthritis Genes in the MHCR01AR050511 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2004 to 2013
$4.2M
Combined Analysis of Gene Expression and DNA Variation in PsoriasisR01AR054966 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2007 to 2011
$3.2M
Arthritis Research UK 17552Medical Research Council G1001158NIAMS NIH HHS R01 AR042742NIAMS NIH HHS R01 AR050511NIAMS NIH HHS R01 AR054966NIDDK NIH HHS P30 DK043351NIGMS NIH HHS T32 GM007753Wellcome Trust 089989Wellcome Trust 091157
6 · The paper itself

Abstract

Genome-wide association (GWA) studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs) and risk of common autoimmune and inflammatory (immune-mediated) diseases, some of which are shared between two diseases. Along with epidemiological and clinical evidence, this suggests that some genetic risk factors may be shared across diseases-as is the case with alleles in the Major Histocompatibility Locus. In this work we evaluate the extent of this sharing for 107 immune disease-risk SNPs in seven diseases: celiac disease, Crohn's disease, multiple sclerosis, psoriasis, rheumatoid arthritis, systemic lupus erythematosus, and type 1 diabetes. We have developed a novel statistic for Cross Phenotype Meta-Analysis (CPMA) which detects association of a SNP to multiple, but not necessarily all, phenotypes. With it, we find evidence that 47/107 (44%) immune-mediated disease risk SNPs are associated to multiple-but not all-immune-mediated diseases (SNP-wise P(CPMA)<0.01). We also show that distinct groups of interacting proteins are encoded near SNPs which predispose to the same subsets of diseases; we propose these as the mechanistic basis of shared disease risk. We are thus able to leverage genetic data across diseases to construct biological hypotheses about the underlying mechanism of pathogenesis.

Indexed as

Autoimmune DiseasesCluster AnalysisComorbidityGenetic LociGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideProtein Interaction Maps

Identifiers

PMID21852963
PMCPMC3154137

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.