Evidence map›Paper›PMID 26686553›Full record

ArticleNature communications2015

A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.

Eric Jorgenson, Nadja Makki, Ling Shen, David C Chen, Chao Tian, Walter L Eckalbar, David Hinds, Nadav Ahituv, Andrew Avins

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 5 pooled it
7.1field-weighted citation impact, top 3% 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

46 citing papers in PubMed, 5 syntheses or guidelines pooled it, 86 citations in OpenAlex.

  1. Pooled it
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  6. Review
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    Review
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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

9 authors at 4 institutions in 1 country.

Eric JorgensonKaiser Permanente Northern California, Division of Research, Oakland, California 94612, USA.
Nadja MakkiDepartment of Bioengineering and Therapeutic Sciences, UCSF, San Francisco, California 94158, USA.
Ling ShenKaiser Permanente Northern California, Division of Research, Oakland, California 94612, USA.
David C ChenLichtenstein Amid Hernia Clinic, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California 90095, USA.
Chao Tian23andMe Inc. 899 W. Evelyn Avenue, Mountain View, California 94041, USA.
Walter L EckalbarDepartment of Bioengineering and Therapeutic Sciences, UCSF, San Francisco, California 94158, USA.
David Hinds23andMe Inc. 899 W. Evelyn Avenue, Mountain View, California 94041, USA.
Nadav AhituvDepartment of Bioengineering and Therapeutic Sciences, UCSF, San Francisco, California 94158, USA.
Andrew AvinsKaiser Permanente Northern California, Division of Research, Oakland, California 94612, USA.
Kaiser Permanente · US23andMe (United States) · USUniversity of California, San Francisco · USUniversity of California, Los Angeles · US

Funding

A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8M
Integrative interpretation of the organismal consequences of non-coding variationR01CA197139 · NCI · UNIVERSITY OF WASHINGTON · PI COOPER, GREGORY MICHAEL, SHENDURE, JAY ASHOK · 2015 to 2017
$1.9M
Development of a web-based database and research engine for genetic discoveryR44HG006981 · NHGRI · 23ANDME, INC. · PI MOUNTAIN, JOANNA L. · 2013 to 2014
$1.4M
Identification & functional characterization of SIM1 obesity-associated variantsR01DK090382 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, VAISSE, CHRISTIAN · 2012 to 2015
$1.3M
Characterization of neuronal gene regulatory elements associated with epilepsyR01NS079231 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV · 2012 to 2015
$1.2M
NCI NIH HHS 1R01CA197139NCI NIH HHS R01 CA197139NHGRI NIH HHS R44 HG006981NHGRI NIH HHS R44HG006981NIA NIH HHS RC2 AG036607NIDDK NIH HHS 1R01DK090382NIDDK NIH HHS R01 DK090382NINDS NIH HHS 1R01NS079231NINDS NIH HHS R01 NS079231
6 · The paper itself

Abstract

Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias. We perform a genome-wide association analysis of surgically confirmed inguinal hernias in 72,805 subjects (5,295 cases and 67,510 controls) and confirm top associations in an independent cohort of 92,444 subjects with self-reported hernia repair surgeries (9,701 cases and 82,743 controls). We identify four novel inguinal hernia susceptibility loci in the regions of EFEMP1, WT1, EBF2 and ADAMTS6. Moreover, we observe expression of all four genes in mouse connective tissue and network analyses show an important role for two of these genes (EFEMP1 and WT1) in connective tissue maintenance/homoeostasis. Our findings provide insight into the aetiology of hernia development and highlight genetic pathways for studies of hernia development and its treatment.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyADAM ProteinsADAMTS ProteinsAdultAgedAged, 80 and overAnimalsBasic Helix-Loop-Helix ProteinsCohort StudiesExtracellular Matrix ProteinsFemaleHernia, InguinalHumansMaleMiceADAM ProteinsAdamts6 protein, humanADAMTS ProteinsBasic Helix-Loop-Helix ProteinsEBF2 protein, humanEFEMP1 protein, humanExtracellular Matrix ProteinsWT1 protein, humanWT1 Proteins

Identifiers

PMID26686553
PMCPMC4703831
OpenAlexW2278024690

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.