Evidence map›Paper›PMID 20200332›Full record

ArticleThe Journal of clinical endocrinology and metabolism2010

Family-based analysis of candidate genes for polycystic ovary syndrome.

Kathryn G Ewens, Douglas R Stewart, Wendy Ankener, Margrit Urbanek, Jan M McAllister, Chen Chen, K Maravet Baig, Stephen C J Parker, Elliot H Margulies, Richard S Legro and 3 more

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Article in The Journal of clinical endocrinology and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 5 pooled it
16.6field-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

54 citing papers in PubMed, 5 syntheses or guidelines pooled it, 109 citations in OpenAlex.

  1. Pooled it
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  16. Recent advances in mammalian reproductive biology.Science China. Life sciences · 2020
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 6 institutions in 1 country.

Kathryn G EwensDepartment of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Douglas R Stewart
Wendy Ankener
Margrit Urbanek
Jan M McAllister
Chen Chen
K Maravet Baig
Stephen C J Parker
Elliot H Margulies
Richard S Legro
Andrea Dunaif
Jerome F Strauss
Richard S Spielman
University of Pennsylvania · USVirginia Commonwealth University · USNational Institutes of Health · USNorthwestern University · USPenn State Milton S. Hershey Medical Center · USNational Human Genome Research Institute · US

Funding

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
MULTIDISCIPLINARY CLINICAL AND TRANSLATIONAL SCIENCE (MCTS) PROGRAM (UL1)UL1RR025741 · NCRR · NORTHWESTERN UNIVERSITY AT CHICAGO · PI GREENLAND, PHILIP · 2008 to 2011
$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
Translational Research in Polycystic Ovary SyndromeU54HD034449 · NICHD · VIRGINIA COMMONWEALTH UNIVERSITY · PI NESTLER, JOHN E · 1997 to 2012
$15.0M
Multidisciplinary Clinical and Translational Science (MCTS) Program (UL1)UL1TR000150 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LLOYD-JONES, DONALD M · 2012 to 2013
$10.1M
Identifying and Characterizing Functional Elements in the Human GenomeZIAHG200341 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MARGULIES, ELLIOTT · 2009 to 2011
$2.8M
17 ALPHA HYDROXYLASE EXPRESSION IN HUMAN OVARIAN CELLSR01HD033852 · NICHD · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI MCALLISTER, JAN M · 1996 to 2010
$2.4M
The Inflammatory Response Pathway in the Etiology of Polycystic Ovary SyndromeR01HD057450 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI URBANEK, MARGRIT · 2009 to 2012
$2.1M
Mechanism of Metformin Action in Normal and PCOS Theca CellsR01HD058300 · NICHD · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI MCALLISTER, JAN M · 2008 to 2012
$1.7M
GCRC RELOCATION AND EXPANSION PROJECTC06RR016499 · NCRR · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI KIRCH, DARRELL G · 2001 to 2001
$707k
Intramural NIH HHSNCATS NIH HHS UL1 TR000150NCRR NIH HHS C06 RR016499NCRR NIH HHS M01 RR000048NCRR NIH HHS M01 RR00048NCRR NIH HHS M01 RR002635NCRR NIH HHS M01 RR010732NCRR NIH HHS M01 RR02635NCRR NIH HHS M01 RR10732NCRR NIH HHS RR10732NCRR NIH HHS UL1 RR025741NICHD NIH HHS 5R01HD033852NICHD NIH HHS 5R01HD058300NICHD NIH HHS P50 HD044405NICHD NIH HHS P50 HD44405NICHD NIH HHS R01 HD033852NICHD NIH HHS R01 HD057450NICHD NIH HHS R01 HD058300NICHD NIH HHS U54 HD034449NICHD NIH HHS U54 HD34449
6 · The paper itself

Abstract

contextPolycystic ovary syndrome (PCOS) is a complex disorder having both genetic and environmental components. A number of association studies based on candidate genes have reported significant association, but few have been replicated. D19S884, a polymorphic marker in fibrillin 3 (FBN3), is one of the few association findings that has been replicated in independent sets of families.

objectiveThe aims of the study are: 1) to genotype single nucleotide polymorphisms (SNPs) in the region of D19S884; and 2) to follow up with an independent data set, published results reporting evidence for PCOS candidate gene associations.

designThe transmission disequilibrium test (TDT) was used to analyze linkage and association between PCOS and SNPs in candidate genes previously reported by us and by others as significantly associated with PCOS.

settingThe study was conducted at academic medical centers. PATIENTS OR OTHER

participantsA total of 453 families having a proband with PCOS participated in the study. Sisters with PCOS were also included. There was a total of 502 probands and sisters with PCOS. INTERVENTION(S): There were no interventions. MAIN OUTCOME MEASURE(S): The outcome measure was transmission frequency of SNP alleles.

resultsWe identified a six-SNP haplotype block spanning a 6.7-kb region on chromosome 19p13.2 that includes D19S884. SNP haplotype allele-C alone and in combination with D19S884-allele 8 is significantly associated with PCOS: haplotype-C TDT chi(2) = 10.0 (P = 0.0016) and haplotype-C/A8 TDT chi(2) = 7.6 (P = 0.006). SNPs in four of the other 26 putative candidate genes that were tested using the TDT were nominally significant (ACVR2A, POMC, FEM1B, and SGTA). One SNP in POMC (rs12473543, chi(2) = 9.1; P(corrected) = 0.042) is significant after correction for multiple testing.

conclusionsA polymorphic variant, D19S884, in FBN3 is associated with risk of PCOS. POMC is also a candidate gene of interest.

Indexed as

Polymorphism, Single NucleotideFamilyFemaleFibrillinsGene FrequencyGenetic Association StudiesHaplotypesHumansMicrofilament ProteinsNuclear FamilyPolycystic Ovary SyndromePro-OpiomelanocortinRisk FactorsFBN3 protein, humanFibrillinsMicrofilament ProteinsPro-Opiomelanocortin

Identifiers

PMID20200332
PMCPMC2869537
OpenAlexW2021881867

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.