Evidence map›Paper›PMID 25108383›Full record

ArticleNature genetics2014

Genome-wide association analyses identify variants in developmental genes associated with hypospadias.

Frank Geller, Bjarke Feenstra, Lisbeth Carstensen, Tune H Pers, Iris A L M van Rooij, Izabella Baranowska Körberg, Shweta Choudhry, Juha M Karjalainen, Tine H Schnack, Mads V Hollegaard and 9 more

Abstract read
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In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 7 pooled it
13.9field-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

75 citing papers in PubMed, 7 syntheses or guidelines pooled it, 111 citations in OpenAlex.

  1. Pooled it
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  13. Association ofGenetics research · 2025
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  16. Streamlined identification of clinically and functionally relevant genetic regulators of lower-tract urogenital development.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  17. Review
  18. Novel evidence of CNV deletion inFrontiers in pediatrics · 2024
    Article
  19. Article
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15 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors at 10 institutions in 4 countries.

Frank GellerDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Lisbeth CarstensenDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Tune H Pers1] Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA. [2] Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts, USA. [3] Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [4] Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Lyngby, Denmark.
Iris A L M van RooijDepartment for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands.
Izabella Baranowska Körberg1] Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. [2] Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Shweta ChoudhryDepartment of Urology, University of California, San Francisco, San Francisco, California, USA.
Juha M KarjalainenDepartment of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Tine H SchnackDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Mads V HollegaardDanish Centre for Neonatal Screening, Department of Clinical Biochemistry, Immunology and Genetics, Statens Serum Institut, Copenhagen, Denmark.
Wout F J FeitzDepartment of Urology, Pediatric Urology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
Nel Roeleveld1] Department for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands. [2] Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
David M HougaardDanish Centre for Neonatal Screening, Department of Clinical Biochemistry, Immunology and Genetics, Statens Serum Institut, Copenhagen, Denmark.
Joel N Hirschhorn1] Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA. [2] Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts, USA. [3] Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [4] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Lude FrankeDepartment of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Laurence S BaskinDepartment of Urology, University of California, San Francisco, San Francisco, California, USA.
Agneta Nordenskjöld1] Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. [2] Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Loes F M van der ZandenDepartment for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands.
Mads Melbye1] Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark. [2] Department of Medicine, Stanford School of Medicine, Stanford, California, USA.
Statens Serum Institut · DKKarolinska Institutet · SERadboud University Medical Center · NLRadboud University Nijmegen · NLUniversity of California, San Francisco · USBoston Children's Hospital · USBroad Institute · USStanford Medicine · USUniversity Medical Center Groningen · NLUniversity of Groningen · NL

Funding

UCSF KURe Career Development ProgramK12DK083021 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BASKIN, LAURENCE, CARROLL, PETER R · 2008 to 2017
$5.9M
NIDDK NIH HHS 5K12DK083021
6 · The paper itself

Abstract

Hypospadias is a common congenital condition in boys in which the urethra opens on the underside of the penis. We performed a genome-wide association study on 1,006 surgery-confirmed hypospadias cases and 5,486 controls from Denmark. After replication genotyping of an additional 1,972 cases and 1,812 controls from Denmark, the Netherlands and Sweden, 18 genomic regions showed independent association with P < 5 × 10(-8). Together, these loci explain 9% of the liability to developing this condition. Several of the identified regions harbor genes with key roles in embryonic development (including HOXA4, IRX5, IRX6 and EYA1). Subsequent pathway analysis with GRAIL and DEPICT provided additional insight into possible genetic mechanisms causing hypospadias.

Indexed as

Genes, DevelopmentalCase-Control StudiesDenmarkFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansHypospadiasMaleNetherlandsPolymorphism, Single NucleotideSweden

Identifiers

PMID25108383
OpenAlexW2150299415

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.