Evidence map›Paper›PMID 22180642›Full record

ArticleJournal of medical genetics2012

Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.

Mark O Goodarzi, Michelle R Jones, Xiaohui Li, Angela K Chua, Obed A Garcia, Yii-Der I Chen, Ronald M Krauss, Jerome I Rotter, Wendy Ankener, Richard S Legro and 4 more

Open access · greenAbstract read
In one paragraph

Article in Journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 10 pooled it
14.6field-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

89 citing papers in PubMed, 10 syntheses or guidelines pooled it, 213 citations in OpenAlex.

  1. Pooled it
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  8. Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis.Journal of clinical research in pediatric endocrinology · 2016
    Pooled it
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  14. Phenotype-Specific Association ofInternational journal of fertility & sterility · 2026
    Article
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29 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

14 authors at 7 institutions in 2 countries.

Mark O GoodarziDivision of Endocrinology, Diabetes and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Michelle R Jones
Xiaohui Li
Angela K Chua
Obed A Garcia
Yii-Der I Chen
Ronald M Krauss
Jerome I Rotter
Wendy Ankener
Richard S Legro
Ricardo Azziz
Jerome F Strauss
Andrea Dunaif
Margrit Urbanek
Cedars-Sinai Medical Center · USNorthwestern University · USAugusta University · USInstitute of Human Genetics · PLPennsylvania State University · USUniversity of California, Los Angeles · USVirginia Commonwealth University · US

Funding

ZONA-FREE HAMSTER OVA ASSAY AS AN INDICATOR OF MALE FERTILITYM01RR000425 · NCRR · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI ANDERSON, GAIL V · 1985 to 2011
$74.2M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Zoledronic Acid in Treatment of Osteoporosis in PostmenoM01RR002635 · NCRR · BRIGHAM AND WOMEN'S HOSPITAL · PI GARBER, JUDY E. · 1985 to 2008
$48.4M
WRITING AND THE DAILY EXPERIENCE OF ILLNESSM01RR010732 · NCRR · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI DONG, CHENG · 1995 to 2009
$29.8M
Pharmacogenomics and Risk of Cardiovascular DiseaseU01HL069757 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI KRAUSS, RONALD M · 2001 to 2009
$24.7M
WOMEN'S INTERAGENCY HIV STUDY (WIHS) INTENSIVE PHARMACOKINETICS STUDYM01RR000048 · NCRR · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DUNAIF, ANDREA · 1985 to 2007
$21.1M
Role of Androgen Excess in Provoking Oxidative Stress in FemalesP50HD044405 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DUNAIF, ANDREA E · 2002 to 2017
$17.2M
PROJECT 3 - Steroid-Metabolic Interactions In the Control of GnRH NeuronsU54HD028934 · NICHD · UNIVERSITY OF VIRGINIA CHARLOTTESVILLE · PI MARSHALL, JOHN C · 1998 to 2013
$16.5M
Translational Research in Polycystic Ovary SyndromeU54HD034449 · NICHD · VIRGINIA COMMONWEALTH UNIVERSITY · PI NESTLER, JOHN E · 1997 to 2012
$15.0M
Pharmacogenomics and Risk of Cardiovascular DiseaseU19HL069757 · NHLBI · CHILDREN'S HOSPITAL & RES CTR AT OAKLAND · PI KRAUSS, RONALD M · 2010 to 2014
$12.8M
Multidisciplinary Clinical and Translational Science (MCTS) Program (UL1)UL1TR000150 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LLOYD-JONES, DONALD M · 2012 to 2013
$10.1M
ADRENAL ANDROGEN EXCESS IN THE POLYCYSTIC OVARY SYNDROMER01HD029364 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI AZZIZ, RICARDO · 1993 to 2011
$2.2M
NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR000150NCRR NIH HHS C06 RR016499NCRR NIH HHS C06-RR016499NCRR NIH HHS M01 RR000048NCRR NIH HHS M01 RR000425NCRR NIH HHS M01-RR00048NCRR NIH HHS M01 RR002635NCRR NIH HHS M01-RR00425NCRR NIH HHS M01 RR010732NCRR NIH HHS M01-RR02635NCRR NIH HHS M01-RR10732NCRR NIH HHS RR10732NHLBI NIH HHS R01-HL069757NHLBI NIH HHS U01 HL069757NHLBI NIH HHS U19 HL069757NICHD NIH HHS K24 HD001346NICHD NIH HHS K24-HD001346NICHD NIH HHS P30 HD028934NICHD NIH HHS P50 HD044405NICHD NIH HHS P50-HD044405NICHD NIH HHS R01 HD029364NICHD NIH HHS R01-HD029364NICHD NIH HHS R01 HD057450NICHD NIH HHS R01-HD057450NICHD NIH HHS U54 HD034449NICHD NIH HHS U54-HD034449NICHD NIH HHS U54-HD28934NIDDK NIH HHS R01 DK079888NIDDK NIH HHS R01-DK079888
6 · The paper itself

Abstract

backgroundPolycystic ovary syndrome (PCOS) is a complex endocrine disorder with a strong familial component. PCOS is characterised by hyperandrogenaemia and irregular menses. A recent genome-wide association study (GWAS) of PCOS in a Chinese cohort identified three reproducible PCOS susceptibility loci mapping to 2p16.3 (luteinising hormone/choriogonadotropin receptor; LHCGR), 2p21 (thyroid associated protein; THADA), and 9q33.3 (DENN/MADD domain containing 1A; DENNDIA). The impact of these loci in non-Chinese PCOS cohorts remains to be determined. METHODS AND

resultsThe study tested association with PCOS of seven single nucleotide polymorphisms mapping to the three Chinese PCOS loci in two European derived PCOS cohorts (cohort A = 939 cases and 957 controls; cohort B = 535 cases and 845 controls). Cases fulfilled the National Institute of Child Health & Human Development criteria for PCOS. Variation in DENND1A was strongly associated with PCOS in the study cohort (p(combined cohorts)=10(-8)); multiple variants in THADA were also associated with PCOS, while there was no significant evidence for association of LHCGR variation with PCOS. The present study had >80% power to detect an effect of similar size as was observed by Chen et al for DENND1A and THADA, but reduced power (at <40%) for LHCGR at p=0.0001. The study had sufficient power (57-88%) for LHCGR at p=0.01.

conclusionsAt least two of the PCOS susceptibility loci identified in the Chinese PCOS GWAS (DENND1A and THADA) are also associated with PCOS in European derived populations, and are therefore likely to be important in the aetiology of PCOS regardless of ethnicity. The analysis of the LHCGR gene was not sufficiently powered to detect modest effects.

Indexed as

AdultAllelesAsian PeopleCase-Control StudiesCohort StudiesDeath Domain Receptor Signaling Adaptor ProteinsFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGuanine Nucleotide Exchange FactorsHumansMiddle AgedNeoplasm ProteinsPolycystic Ovary SyndromeDeath Domain Receptor Signaling Adaptor ProteinsDENND1A protein, humanGuanine Nucleotide Exchange FactorsNeoplasm ProteinsTHADA protein, human

Identifiers

PMID22180642
PMCPMC3536488
OpenAlexW2100377939

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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.