Evidence map›Paper›PMID 22482804›Full record

SynthesisAmerican journal of human genetics2012

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.

David Ellinghaus, Eva Ellinghaus, Rajan P Nair, Philip E Stuart, Tõnu Esko, Andres Metspalu, Sophie Debrus, John V Raelson, Trilokraj Tejasvi, Majid Belouchi and 20 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 176 papers, 12 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
176citing papers in PubMed, 12 pooled it
12.6field-weighted citation impact, top 1% of its field
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

176 citing papers in PubMed, 12 syntheses or guidelines pooled it, 353 citations in OpenAlex.

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  2. Cross-phenotype analysis of Immunochip data identifiesAnnals of the rheumatic diseases · 2018
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116 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

30 authors at 10 institutions in 5 countries.

David EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.
Eva Ellinghaus
Rajan P Nair
Philip E Stuart
Tõnu Esko
Andres Metspalu
Sophie Debrus
John V Raelson
Trilokraj Tejasvi
Majid Belouchi
Sarah L West
Jonathan N Barker
Sulev Kõks
Külli Kingo
Tobias Balschun
Orazio Palmieri
Vito Annese
Christian Gieger
H Erich Wichmann
Michael Kabesch
Richard C Trembath
Christopher G Mathew
Gonçalo R Abecasis
Stephan Weidinger
Susanna Nikolaus
Stefan Schreiber
James T Elder
Michael Weichenthal
Michael Nothnagel
Andre Franke
University of Michigan–Ann Arbor · USKing's College London · GBUniversity of Tartu · EEUniversity Hospital Schleswig-Holstein · DECasa Sollievo della Sofferenza · ITHelmholtz Zentrum München · DEKiel University · DEMedizinische Hochschule Hannover · DEUniversity of Lübeck · DEZimmer Biomet (Germany) · DE

Funding

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
Robust Software Tools for Variant Identification and Functional AssessmentU01HG006513 · NHGRI · UNIVERSITY OF UTAH · PI ABECASIS, GONCALO, MARTH, GABOR T · 2012 to 2015
$4.2M
NHGRI NIH HHS U01 HG006513NIAMS NIH HHS R01 AR042742NIAMS NIH HHS R01 AR050511
6 · The paper itself

Abstract

Psoriasis (PS) and Crohn disease (CD) have been shown to be epidemiologically, pathologically, and therapeutically connected, but little is known about their shared genetic causes. We performed meta-analyses of five published genome-wide association studies on PS (2,529 cases and 4,955 controls) and CD (2,142 cases and 5,505 controls), followed up 20 loci that showed strongest evidence for shared disease association and, furthermore, tested cross-disease associations for previously reported PS and CD risk alleles in additional 6,115 PS cases, 4,073 CD cases, and 10,100 controls. We identified seven susceptibility loci outside the human leukocyte antigen region (9p24 near JAK2, 10q22 at ZMIZ1, 11q13 near PRDX5, 16p13 near SOCS1, 17q21 at STAT3, 19p13 near FUT2, and 22q11 at YDJC) shared between PS and CD with genome-wide significance (p < 5 × 10(-8)) and confirmed four already established PS and CD risk loci (IL23R, IL12B, REL, and TYK2). Three of the shared loci are also genome-wide significantly associated with PS alone (10q22 at ZMIZ1, p(rs1250544) = 3.53 × 10(-8), 11q13 near PRDX5, p(rs694739) = 3.71 × 10(-09), 22q11 at YDJC, p(rs181359) = 8.02 × 10(-10)). In addition, we identified one susceptibility locus for CD (16p13 near SOCS1, p(rs4780355) = 4.99 × 10(-8)). Refinement of association signals identified shared genome-wide significant associations for exonic SNPs at 10q22 (ZMIZ1) and in silico expression quantitative trait locus analyses revealed that the associations at ZMIZ1 and near SOCS1 have a potential functional effect on gene expression. Our results show the usefulness of joint analyses of clinically distinct immune-mediated diseases and enlarge the map of shared genetic risk loci.

Indexed as

Genetic LociCrohn DiseaseExonsFemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotidePsoriasisQuantitative Trait Loci

Identifiers

PMID22482804
PMCPMC3322238
OpenAlexW2133578694

What OpenQuestion holds

Textmetadata
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.