SynthesisNature genetics2025
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
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.
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.
Who cites it
13 citing papers in PubMed.
- MASLD, diabetes and PMOS across the female life stages.Diabetologia · 2026Review
- From Gene Function to Precision Intervention: CRISPR/Cas9 and Stem Cell-Based Strategies as Emerging Disease-Modifying Approaches in PMOS.Stem cell reviews and reports · 2026Review
- Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.The Journal of clinical investigation · 2026Article
- Polyendocrine metabolic ovarian syndrome in pregnancy: pathophysiology and outcomes.Nature reviews. Endocrinology · 2026Review
- Integrative Multi-omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome.Journal of assisted reproduction and genetics · 2026Article
- Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review.Metabolites · 2026Review
- A novel PCOS susceptibility gene, cathepsin B, might be likely to contribute to the pyroptosis of ovarian granulosa cells.Journal of assisted reproduction and genetics · 2026Article
- Natural Products in the Metabolic and Endocrine Modulation of Polycystic Ovary Syndrome: Current Perspectives.Nutrients · 2026Review
- Unraveling the mechanisms of PCOS: the interplay between gut microbiota and the immune system.Journal of ovarian research · 2026Review
- Genetic polymorphism of long non-coding RNA TUG1 and susceptibility to polycystic ovary syndrome: a case-control study.Hereditas · 2026Article
- FGF7 mitigates airway inflammation and epithelial injury in cigarette smoke-induced COPD model.Frontiers in immunology · 2026Article
- OTX2 awakens the genome of human embryos.Nature genetics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
41 authors.
Han Zhao *State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China. hanzh80@sdu.edu.cn.ORCID http://orcid.org/0000-0001-9515-7534
Yuping Xu *Department of Obstetrics and Gynecology, NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, the First Affiliated Hospital of Anhui Medical University, Hefei, China.ORCID http://orcid.org/0000-0002-2034-1086
Baiqiang Xue *The Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.ORCID http://orcid.org/0009-0000-8217-604X
Shigang Zhao *State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.ORCID http://orcid.org/0000-0002-7407-9220
Manfei Zhang *Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Xiao-Ke WuDepartment of Obstetrics and Gynecology, First Affiliated Hospital, Zhejiang Chinese Medical University, Hangzhou, and First Affiliated Hospital, Heilongjiang University of Chinese Medicine, Harbin, China.
Tianjuan WangDepartment of Obstetrics and Gynecology, NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, the First Affiliated Hospital of Anhui Medical University, Hefei, China.ORCID http://orcid.org/0000-0002-0175-8337
Yanqin WenBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Shumin LiState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.ORCID http://orcid.org/0000-0003-0417-051X
Qing ZhangBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Ziyi YangState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.ORCID http://orcid.org/0000-0002-4138-5598
Hui SunBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Ting PanBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Yihong LianThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Xueying GaoShanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.ORCID http://orcid.org/0000-0002-5868-5378
Chengwen GaoThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.ORCID http://orcid.org/0000-0001-7694-8023
Zhao WangState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.
Chuanhong WuThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Changming ZhangState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.
Xuemin JianBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Lixia PengThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Xin ZhangState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.
Baokun WangThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Lieqing WeiQingdao Medical College, Qingdao University, Qingdao, China.
Yuyan HeInstitute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China.
Disong XiaBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Ziyun WuBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.ORCID http://orcid.org/0009-0009-7103-8173
Qiangzhen YangBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Yuanchao SunThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Yonghe DingThe Affiliated Hospital of Qingdao University and Institute of Genetics and Integrative Biology (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Siyuan DuBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Guofeng XiaQingdao Medical College, Qingdao University, Qingdao, China.
Yulong JingQingdao Medical College, Qingdao University, Qingdao, China.
Hairong XuInstitute of Neuroscience, State Key Laboratory of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China.
Weiye ShiQingdao Medical College, Qingdao University, Qingdao, China.
Junting LiuQingdao Medical College, Qingdao University, Qingdao, China.
Lin HeBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.ORCID http://orcid.org/0000-0003-1079-1195
Zi-Jiang ChenState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Clinical Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.ORCID http://orcid.org/0000-0001-6637-6631
Yunxia CaoEngineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei, China. caoyunxia6@126.com.ORCID http://orcid.org/0000-0002-8715-0874
Zhiqiang LiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China. lizqsjtu@163.com.ORCID http://orcid.org/0000-0002-0174-9254
Yongyong ShiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China. shiyongyong@gmail.com.ORCID http://orcid.org/0000-0003-1710-1505
Funding
National Natural Science Foundation of China (National Science Foundation of China) 32370916, 82071606National Natural Science Foundation of China (National Science Foundation of China) 32588201National Natural Science Foundation of China (National Science Foundation of China) 82101707National Natural Science Foundation of China (National Science Foundation of China) 82271540National Natural Science Foundation of China (National Science Foundation of China) 82421004Natural Science Foundation of Shandong Province (Shandong Provincial Natural Science Foundation) YDZX2021009Natural Science Foundation of Shandong Province (Shandong Provincial Natural Science Foundation) ZR2023YQ061
Abstract
Polycystic ovary syndrome (PCOS), the leading endocrine disorder in women of reproductive age, is highly heritable, yet its polygenic architecture remains poorly understood. Here we conducted a genome-wide association study on 12,419 Chinese women with PCOS and 34,235 controls, followed by a multi-ancestry meta-analysis with up to 13,773 European cases and 411,088 controls, identifying 94 independent loci, 73 of which were previously unreported. Despite different evolutionary pressures, Chinese and European ancestries showed substantial genetic overlap. Integrative functional analyses prioritized regulatory variants controlling gene activity in specific tissues, disease-causing genes including anti-Müllerian hormone (AMH), and biological pathways involving ligand-binding domain interactions and peroxisome proliferator-activated receptor gamma (PPARG) signaling. We identified granulosa cells as particularly important in PCOS development. Our genetics-driven drug discovery approach revealed multiple drug targets and repurposing opportunities, enabling personalized treatment strategies. These results enhance our understanding of the molecular basis of PCOS, paving the way for precision medicine.
Indexed as
Genome-Wide Association StudyPolycystic Ovary SyndromeAdultAnti-Mullerian HormoneCase-Control StudiesEast Asian PeopleFemaleGenetic Predisposition to DiseaseHumansMultifactorial InheritancePolymorphism, Single NucleotidePPAR gammaWhite PeopleAnti-Mullerian HormonePPAR gamma
Identifiers
PMID
41188533What OpenQuestion holds
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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.