Cited by 301Ovarian function and disordersGenetic and Kidney Cyst DiseasesSexual Differentiation and Disorders

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Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification

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Dapas, Matthew, Dunaif, Andrea·2022·Endocrine Reviews

DOI 10.1210/endrev/bnac001PMC PMC9695127

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Abstract

Polycystic ovary syndrome (PCOS) is among the most common disorders in women of reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria. PCOS is characterized by a constellation of interrelated reproductive abnormalities, including disordered gonadotropin secretion, increased androgen production, chronic anovulation, and polycystic ovarian morphology. It is frequently associated with insulin resistance and obesity. These reproductive and metabolic derangements cause major morbidities across the lifespan, including anovulatory infertility and type 2 diabetes (T2D). Despite decades of investigative effort, the etiology of PCOS remains unknown. Familial clustering of PCOS cases has indicated a genetic contribution to PCOS. There are rare Mendelian forms of PCOS associated with extreme phenotypes, but PCOS typically follows a non-Mendelian pattern of inheritance consistent with a complex genetic architecture, analogous to T2D and obesity, that reflects the interaction of susceptibility genes and environmental factors. Genomic studies of PCOS have provided important insights into disease pathways and have indicated that current diagnostic criteria do not capture underlying differences in biology associated with different forms of PCOS. We provide a state-of-the-science review of genetic analyses of PCOS, including an overview of genomic methodologies aimed at a general audience of non-geneticists and clinicians. Applications in PCOS will be discussed, including strengths and limitations of each study. The contributions of environmental factors, including developmental origins, will be reviewed. Insights into the pathogenesis and genetic architecture of PCOS will be summarized. Future directions for PCOS genetic studies will be outlined.

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Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008) · Nature Methods · doi:10.1038/nmeth.1226 · Cited by 13,696
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
AMSTAR 2: a critical appraisal tool for systematic reviews that include randomised or non-randomised studies of healthcare interventions, or both.
Shea, B. J., Reeves, B. C., Wells, G., Thuku, M., Hamel, C., Moran, J., Moher, D., Tugwell, P., Welch, V., Kristjansson, E., et al. (2017) · BMJ · doi:10.1136/bmj.j4008 · Cited by 10,636
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
EVOLUTION IN MENDELIAN POPULATIONS
Wright, S. (1931) · Genetics · doi:10.1093/genetics/16.2.97 · Cited by 9,237
Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome
(2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.10.004 · Cited by 9,050

Show all 564 references

Research works printed but not linked: 8

Chereau, Mémoires pour servir à l’étude des malades ovaires., 1844
Dunaif, 1992, Polycystic Ovary Syndrome.
White, 1996, Induction of ovulation with low-dose gonadotropins in polycystic ovary syndrome: an analysis of 109 pregnancies in 225 women, J Clin Endocrinol Metab., 81, 3821
Rosenbaum, 1993, Insulin resistance in polycystic ovary syndrome: decreased expression of GLUT-4 glucose transporters in adipocytes, Am J Physiol., 264, E197
Zawadzki, 1992, Diagnostic criteria for polycystic ovary syndrome; towards a rational approach, 377
National Institutes of Health., Evidence-based Methodology Workshop on Polycystic Ovary Syndrome - Final Report.
Fisher, 1931, The Genetical Theory of Natural Selection.
Legro, 1999, Prevalence and predictors of risk for type 2 diabetes mellitus and impaired glucose tolerance in polycystic ovary syndrome: a prospective, controlled study in 254 affected women, J Clin Endocrinol Metab., 84, 165

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Retracted
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Weng, L., Zhu, Q., Xiang, Y., Cao, T., Cai, J., Liang, N., Hong, X., Xue, M., & Ge, H. (2024) · International Immunopharmacology · doi:10.1016/j.intimp.2024.113327 · Cited by 14
The role of long non-coding RNA H19 in infertility
Peng, Y., Guo, R.-H., Shi, B., & Li, D. (2023) · Cell Death Discovery · doi:10.1038/s41420-023-01567-y · Cited by 14
A Narrative Review of Quercetin’s Role as a Bioactive Compound in Female Reproductive Disorders
Khamineh, Y., Ghiasvand, M., Panahi-Alanagh, S., Rastegarmand, P., Zolghadri, S., & Stanek, A. (2025) · Nutrients · doi:10.3390/nu17071118 · Cited by 16
Nanomaterial-enhanced biosensors for polycystic ovarian syndrome diagnosis and pathophysiological insights
Taha, B. A., Al-Rawi, M. A., Addie, A. J., Abdulateef, S. A., Haider, A. J., Chaudhary, V., & Arsad, N. (2025) · Microchimica Acta · doi:10.1007/s00604-025-07415-3 · Cited by 13
Thyroid function and polycystic ovary syndrome: a Mendelian randomization study
Zhao, Z., Gao, Y., Pei, X., Wang, W., Wang, R., & Zhang, H. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1364157 · Cited by 13
Effect of Rhei Radix Et Rhizome on treatment of polycystic ovary syndrome by regulating PI3K/AKT pathway and targeting EGFR/ALB in rats
Yang, W., Qiu, J., Zi, J., Li, Y., Li, J., Guo, M., Zhou, Y., Yang, X., & Yong, L. (2024) · Journal of Ethnopharmacology · doi:10.1016/j.jep.2024.119020 · Cited by 13
Hyperandrogenism triggers mtDNA release to participate in ovarian inflammation via mPTP/cGAS/STING in PCOS
Cai, J., Zhu, Q., Xiang, Y., Weng, L., Liang, N., Hong, X., Xue, M., & Ge, H. (2025) · iScience · doi:10.1016/j.isci.2025.112391 · Cited by 13
Out of step societal and Darwinian adaptation during evolution is the cause of multiple women’s health issues
Pei, Z., Lu, W., Feng, Y., Xu, C., & Hsueh, A. J. W. (2022) · Human Reproduction · doi:10.1093/humrep/deac156 · Cited by 15
“Tis but thy name that is my enemy”—the problem with the naming of polycystic ovary syndrome
Norman, R. J., Morman, R., & Teede, H. J. (2023) · Fertility and Sterility · doi:10.1016/j.fertnstert.2023.03.028 · Cited by 13
Breaking the metabolic–inflammatory vicious cycle in polycystic ovary syndrome: a comparative review of ketogenic and high-fat diets
Yang, W., Pang, N., & He, X. (2025) · Lipids in Health and Disease · doi:10.1186/s12944-025-02693-5 · Cited by 14
Polycystic ovary syndrome: A review of diagnosis and management, with special focus on atherosclerotic cardiovascular disease prevention
Myerson, M. L., Paparodis, R. D., Block, R., Karalis, D. G., Mintz, G. L., Brinton, E. A., & Wild, R. A. (2024) · Journal of clinical lipidology · doi:10.1016/j.jacl.2024.04.131 · Cited by 12
PCOS and the Genome: Is the Genetic Puzzle Still Worth Solving?
Palumbo, M., Corte, L. D., Colacurci, D., Ascione, M., D’Angelo, G., Baldini, G. M., Giampaolino, P., & Bifulco, G. (2025) · Biomedicines · doi:10.3390/biomedicines13081912 · Cited by 14
Transcriptomic survey of key reproductive and metabolic tissues in mouse models of polycystic ovary syndrome
Pei, Y., Risal, S., Jiang, H., Lu, H., Lindgren, E., Stener‐Victorin, E., & Deng, Q. (2023) · Communications Biology · doi:10.1038/s42003-022-04362-0 · Cited by 12
Change in Androgenic Status and Cardiometabolic Profile of Middle-Aged Women with Polycystic Ovary Syndrome
van der Ham, K., Koster, M. P. H., Velthuis, B. K., Budde, R. P. J., Fauser, B. C. J. M., Laven, J. S. E., & Louwers, Y. V. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12165226 · Cited by 12
Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production
Sankaranarayanan, L., Brewer, K., Morrow, S., Johnson, G. D., Barrera, A., Venukuttan, R., Sisk, R. K., Dunaif, A. E., & Reddy, T. E. (2025) · Nature Communications · doi:10.1038/s41467-025-62884-7 · Cited by 12
Self-citation
Intrafollicular fluid metabolic abnormalities in relation to ovarian hyperstimulation syndrome: Follicular fluid metabolomics via gas chromatography-mass spectrometry
Sun, Y., Hao, L., Han, W., Luo, J., Zheng, J., Yuan, D., Ye, H., Li, Q., Huang, G., Han, T.-L., et al. (2022) · Clinica Chimica Acta · doi:10.1016/j.cca.2022.11.033 · Cited by 11
A novel model based on necroptosis to assess progression for polycystic ovary syndrome and identification of potential therapeutic drugs
Wang, M., An, K., Huang, J., Mprah, R., & Ding, H. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1193992 · Cited by 13
PCOS - the many faces of a disorder in women and men
Lafcı, N. G., Yılmaz, B., & Yıldız, B. O. (2024) · Journal of Endocrinological Investigation · doi:10.1007/s40618-024-02512-1 · Cited by 11
Evaluating the association between lipidome and female reproductive diseases through comprehensive Mendelian randomization analyses
Ma, Y., Wu, F., Yu, Z., & Yang, L. (2025) · Scientific Reports · doi:10.1038/s41598-025-86794-2 · Cited by 12
Gut microbiota and ovarian diseases: a new therapeutic perspective
Ju, S., Kang, Z., Yang, L., Xia, Y., Guo, Y. M., Li, S., Yan, H., Mao, Q., Wang, H. P., & Zhong, L. (2025) · Journal of Ovarian Research · doi:10.1186/s13048-025-01684-5 · Cited by 11
Differential Association of FTO Gene variants and Haplotypes with the Susceptibility to Polycystic Ovary Syndrome According To Obesity in Women with PCOS
Almawi, W. Y., Nemr, R., Atazhanova, T., Malalla, Z. H. A., Sarray, S., Mustafa, F. E., & Mahmood, N. (2023) · Reproductive Sciences · doi:10.1007/s43032-022-01149-w · Cited by 11
The mechanism of Leonuri Herba in improving polycystic ovary syndrome was analyzed based on network pharmacology and molecular docking
Wu, M., Liu, H., Zhang, J., Dai, F., Gong, Y., & Cheng, Y. (2023) · Journal of Pharmacy & Pharmaceutical Sciences · doi:10.3389/jpps.2023.11234 · Cited by 11
Polycystic ovary syndrome: Insights into its prevalence, diagnosis, and management with special reference to gut microbial dysbiosis
Khobragade, N. H., Sheth, D. B., Patel, C. A., Beladiya, J., Patel, S. P., & Dalal, M. (2024) · Steroids · doi:10.1016/j.steroids.2024.109455 · Cited by 13
Polyendocrine metabolic ovarian syndrome in pregnancy: pathophysiology and outcomes
Teede, H. J., Vanky, E., Piltonen, T., Stener‐Victorin, E., Moran, L., & Khomami, M. B. (2026) · Nature Reviews Endocrinology · doi:10.1038/s41574-026-01261-w · Cited by 11
Polyendocrine metabolic ovarian syndrome (PMOS)/polycystic ovary syndrome (PCOS): current and future trends
Chan, J. L., Masini, I., & Pisarska, M. D. (2026) · Journal of Clinical Investigation · doi:10.1172/jci202824 · Cited by 17
Anti-Mullerian Hormone-Based Phenotyping Identifies Subgroups of Women with Polycystic Ovary Syndrome with Differing Clinical and Biochemical Characteristics
Nguyen, M. T., Krishnan, S., Phatak, S., & Karakas, S. E. (2023) · Diagnostics · doi:10.3390/diagnostics13030500 · Cited by 9
Aberrant HPO Axis Alterations and Autoimmune Abnormalities in PCOS Patients with DOR: A Retrospective Analysis
Geng, X., He, Z., Bao, Z., Di, W. J., & Gu, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12165212 · Cited by 10
BMP4 participates in the pathogenesis of PCOS by regulating glucose metabolism and autophagy in granulosa cells under hyperandrogenic environment
Gu, R., Dai, F., Xiang, C., Chen, J., Yang, D., Tan, W., Wang, Z., Liu, H., & Cheng, Y. (2023) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2023.106410 · Cited by 12
Detection and Classification of Polycystic Ovary Syndrome using Machine Learning-Based Approaches
Modi, N., & Kumar, Y. (2024) · IEEE International Conference on Interdisciplinary Approaches in Technology and Management for Social Innovation (IATMSI) · doi:10.1109/iatmsi60426.2024.10503222 · Cited by 10
Dapagliflozin attenuates fat accumulation and insulin resistance in obese mice with polycystic ovary syndrome
Lin, B., Guo, X., Lü, W., Niu, R. L., Zeng, X., Chen, Z., Wu, C., & Liu, C. (2024) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2024.176742 · Cited by 10
Efficacy and safety of glucagon-like peptide-1 receptor agonists in the treatment of polycystic ovary syndrome-A systematic review and meta-analysis
Tong, X., Song, X., Zhang, Y., & Zhao, Q. (2024) · Archives of Physiology and Biochemistry · doi:10.1080/13813455.2024.2380422 · Cited by 12
Distinct mechanisms of electroacupuncture and manual acupuncture in modulating hypothalamic GnRH–tanycyte unit function of polycystic ovary syndrome
Wang, Y., Wang, Y., Chen, Y., Lu, W., Tong, X., Li, J., Gao, W., Huang, R., Hu, W., & Feng, Y. (2025) · Chinese Medicine · doi:10.1186/s13020-025-01068-3 · Cited by 10
Luteolin Treats Obese Rats With Polycystic Ovary Syndrome by Improving Liver Lipid Metabolism and Regulating the Gut Microbiota
Dai, G., Zhang, Y., Shen, C., Jiao, Y., Shen, W., Yu, F., Liu, R., Wang, D., Yuan, G., & Jia, J. (2025) · Phytotherapy Research · doi:10.1002/ptr.70043 · Cited by 10
Anti-Müllerian Hormone: A Molecular Key to Unlocking Polycystic Ovary Syndrome?
Abbott, D. H., Hutcherson, B. A., & Dumesic, D. A. (2024) · Seminars in Reproductive Medicine · doi:10.1055/s-0044-1787525 · Cited by 10

Authors: Dapas, M., & Dunaif, A.
Affiliations: University of Chicago (US)
Icahn School of Medicine at Mount Sinai (US)
ORCID: Dapas, Matthew
Dunaif, Andrea
Venue: Endocrine Reviews
Publisher: The Endocrine Society
Published: 2022-01-13
Volume: 43
Issue: 6
Pages: 927-965
ISSN: 0163-769X (ISSN-L)
1945-7189
DOI: 10.1210/endrev/bnac001
PMC: PMC9695127
OpenAlex: W4206803663
Cited by: 300
References: 564
Citations by year: 2026: 58 · 2025: 84 · 2024: 88 · 2023: 55 · 2022: 15
FWCI: 51.19
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: academic.oup.com/pages/standard-publication-reuse-rights (vor)
Locations: Endocrine Reviews (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (P50 HD044405, R01 HD085227, R01 HD100812, 5TL1TR002388)
Topics: Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Keywords: polycystic ovary syndrome, PCOS classification, PCOS diagnostic criteria, insulin resistance, obesity, type 2 diabetes, anovulatory infertility, androgen production, gonadotropin secretion, developmental origins, environmental factors, susceptibility genes, PCOS pathogenesis
MeSH terms: Diabetes Mellitus, Type 2, Female, Humans, Obesity, Polycystic Ovary Syndrome, Hyperandrogenism, Genomics

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Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification

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