Evidence map›Paper›PMID 38408933›Full record

SynthesisBMC genomics2024

Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.

Kharis Burns, Benjamin H Mullin, Loes M E Moolhuijsen, Triin Laisk, Jaakko S Tyrmi, Jinrui Cui, Ky'Era V Actkins, Yvonne V Louwers, Estonian Biobank Research Team, Lea K Davis and 12 more

Open access · goldAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in BMC genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
12.4field-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

17 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. On the Intimate Relationship of Adiposity to Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2025
    Review
  6. Review
  7. Review
  8. Review
  9. Brain-Specific Gata4 Downregulation in Greywick Female Mice Models the Metabolic Subtype of Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. Review
  15. Article
  16. Review
  17. Polycystic ovary syndrome.Nature reviews. Disease primers · 2024
    Review
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

22 authors at 12 institutions in 6 countries.

Kharis BurnsDepartment of Endocrinology and Diabetes, Royal Perth Hospital, Perth, WA, 6009, Australia. kharis.burns@research.uwa.edu.au.
Benjamin H MullinDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
Loes M E MoolhuijsenDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Triin LaiskEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Jaakko S TyrmiCenter for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Jinrui CuiDivision of Endocrinology, Diabetes, and Metabolism, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Ky'Era V ActkinsEpidemiology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA.
Yvonne V LouwersDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Estonian Biobank Research Team
Lea K DavisDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Frank DudbridgePopulation Health Sciences, University of Leicester, Leicester, UK.
Ricardo AzzizObstetrics & Gynecology, Medicine, and Healthcare Organization & Policy, Schools of Medicine and Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Mark O GoodarziDivision of Endocrinology, Diabetes, and Metabolism, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Hannele LaivuoriCenter for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Reedik MägiEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Jenny A VisserDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Joop S E LavenDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Scott G WilsonDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
FinnGen
International PCOS Consortium
Felix R DayMRC Epidemiology Unit, Cambridge Biomedical Campus, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Bronwyn G A StuckeyMedical School, University of Western Australia, Nedlands, WA, Australia.
The University of Western Australia · AUErasmus MC · NLCedars-Sinai Medical Center · USUniversity of Cambridge · GBUniversity of Tartu · EEKeogh Institute for Medical Research · AUNational Institute of Environmental Health Sciences · USTampere University · FIUniversity of Alabama at Birmingham · USUniversity of Helsinki · FIUniversity of Leicester · GBVanderbilt University Medical Center · US

Funding

Role of Androgen Excess in Provoking Oxidative Stress in FemalesP50HD044405 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DUNAIF, ANDREA E · 2002 to 2017
$17.2M
Genome-Wide Association Scan of Polycystic Ovary Syndrome PhenotypesR01HD057223 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DUNAIF, ANDREA E · 2009 to 2010
$5.3M
Genetically Validated PCOS Subtypes: Data-Driven Clinical Translation for Improved Diagnosis and Comprehensive Risk StratificationR01HD100812 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Andrea Dunaif · 2020 to 2026
$4.1M
Global Genomic Analyses of Human HematopoiesisU01DK063481 · NIDDK · PRINCETON UNIVERSITY · PI LEMISCHKA, IHOR R · 2002 to 2004
$3.2M
Multiethnic Fine-Mapping of Polycystic Ovary Syndrome Susceptibility LociR01HD085227 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHEN, ZIJIANG, DUNAIF, ANDREA E · 2016 to 2020
$3.2M
ADRENAL ANDROGEN EXCESS IN THE POLYCYSTIC OVARY SYNDROMER01HD029364 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI AZZIZ, RICARDO · 1993 to 2011
$2.2M
ANDROGEN EXCESS DISORDERK24HD001346 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI AZZIZ, RICARDO · 2000 to 2004
$455k
NICHD NIH HHS K24 HD001346NICHD NIH HHS P50 HD044405NICHD NIH HHS R01 HD029364NICHD NIH HHS R01 HD057223NICHD NIH HHS R01 HD085227NICHD NIH HHS R01 HD100812NICHD NIH HHS R01-HD29364 and K24-HD01346NIDDK NIH HHS U01 DK063481Wellcome Trust
6 · The paper itself

Abstract

backgroundPolycystic ovary syndrome (PCOS) is a complex multifactorial disorder with a substantial genetic component. However, the clinical manifestations of PCOS are heterogeneous with notable differences between lean and obese women, implying a different pathophysiology manifesting in differential body mass index (BMI). We performed a meta-analysis of genome-wide association study (GWAS) data from six well-characterised cohorts, using a case-control study design stratified by BMI, aiming to identify genetic variants associated with lean and overweight/obese PCOS subtypes.

resultsThe study comprised 254,588 women (5,937 cases and 248,651 controls) from individual studies performed in Australia, Estonia, Finland, the Netherlands and United States of America, and separated according to three BMI stratifications (lean, overweight and obese). Genome-wide association analyses were performed for each stratification within each cohort, with the data for each BMI group meta-analysed using METAL software. Almost half of the total study population (47%, n = 119,584) were of lean BMI (≤ 25 kg/m

conclusionsGenetic variation at the XBP1, LINC02905 and ERBB4 loci were associated with PCOS within unique BMI strata, while DENND1A demonstrated associations across multiple strata, providing evidence of both distinct and shared genetic features between lean and overweight/obese PCOS-affected women. This study demonstrated that PCOS-affected women with contrasting body weight are not only phenotypically distinct but also show variation in genetic architecture; lean PCOS women typically display elevated gonadotrophin ratios, lower insulin resistance, higher androgen levels, including adrenal androgens, and more favourable lipid profiles. Overall, these findings add to the growing body of evidence supporting a genetic basis for PCOS as well as differences in genetic patterns relevant to PCOS BMI-subtype.

Indexed as

Genome-Wide Association StudyPolycystic Ovary SyndromeBody Mass IndexCase-Control StudiesFemaleHumansObesityOverweightBMIBody mass indexGWASLeanMeta-analysisObesePCOSPolycystic ovary syndrome

Identifiers

PMID38408933
PMCPMC10895801
OpenAlexW4392158843

What Socratic holds

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LicenceCC BY
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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 Socratic graph.