Genetics of Polycystic Ovary Syndrome

Welt, Corrine K.

doi:10.1016/j.ecl.2020.10.006

Cited by 44Ovarian function and disordersGenetic and Kidney Cyst DiseasesGenetic Associations and Epidemiology

Genetics of Polycystic Ovary Syndrome

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Welt, Corrine K.·2021·Endocrinology and Metabolism Clinics of North America

DOI 10.1016/j.ecl.2020.10.006PMC PMC8045670

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Abstract

Polycystic ovary syndrome (PCOS) is a complex genetic disorder with many genetic loci contributing small risk. Large genome-wide association studies identified 21 genetic risk loci for PCOS in European and Han Chinese women. The genetic architecture is similar across PCOS diagnostic categories. The next wave of analysis will incorporate large genotyped datasets linked to medical records, increasing numbers and ethnic subsets. The resulting genetic risk loci can then be used to create robust genetic risk scores enhanced with clinical information, environment and lifestyle data for a precision medicine approach to PCOS diagnosis and treatment.

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Additional PCOS gene loci have subsequently been found in several different ethnic groups.
“Additional loci have subsequently been found in several different ethnic groups [86,88].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [86]

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[31]Ruf-Zamojski Frederique, Zhang Zidong, Zamojski Michel, Smith Gregory R., Mendelev Natalia, Liu Hanqing, Nudelman German, Moriwaki Mika, Pincas Hanna, Castanon R osa Gomez, Nair Venugopalan D., Seenarine Nitish, Amper Mary Anne S., Zhou Xiang, Ongaro Luisina, Toufaily Chirine, Schang Gauthier, Nery Joseph R., Bartlett Anna, Aldridge Andrew, Jain Nimisha, Childs Gwen V., Troyanskaya Olga G., Ecker Joseph R., Turgeon Judith L., Welt Corrine K., Bernard Daniel J., Sealfon Stuart C.. bioRxiv. 2020.06.06.138024.

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Plant medicine metabolite Yulinzhu treating neurological disorder causing polycystic ovary syndrome: a systematic review and a meta-analysis
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Navigating the Future of PCOS Treatment: The Precision Medicine Paradigm
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Integrating evidence-based lifestyle and adjunct therapies for long-term management of polycystic ovary syndrome: mechanistic insights and clinical implications
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Policistisko olnīcu sindroms pusaudzēm – starppaaudžu, ģenētiskie, dzīves kvalitātes un negausīgas ēšanas aspekti. Promocijas darbs
Līdaka, L. (2022) · doi:10.25143/prom-rsu_2022-10_pd
Polycystic Ovarian Syndrome in Adolescents – Intergenerational, Genetic, Quality of Life and Binge Eating Aspects. Summary of the Doctoral Thesis
Līdaka, L. (2022) · doi:10.25143/prom-rsu_2022-10_dts
Use of Myoinositol in PCOS
Salehpour, S., Hosseini, S., & Zarisfi, Z. (2025) · Obstetrics and gynecology. · doi:10.5772/intechopen.1011168
Additional file 3 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685513
Additional file 4 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685516
Additional file 13 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685543
Additional file 10 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685534
Additional file 11 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685537
Additional file 2 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685510
Additional file 1 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685507
Additional file 6 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685522
Additional file 7 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685525
Additional file 8 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685528
Additional file 9 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685531
Additional file 12 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685540
Additional file 5 of Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Burns, K. A., Mullin, B. H., Moolhuijsen, L. M. E., Laisk, T., Tyrmi, J. S., Cui, J., Actkins, K. V., Louwers, Y. V., Davis, L. K., Dudbridge, F., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26685519
Polycystic ovary syndrome and cardiovascular disease risk
Друк, И. В., Друк, И. В., & Мамедов, М. Н. (2026) · Rational Pharmacotherapy in Cardiology · doi:10.20996/1819-6446-2025-3183
Gene expression of FOXA1 and CCL2 in different phenotypes of infertile women with polycystic ovarian syndrome
Abdallah, A. A. H., Abou‐El‐Naga, A. M., Elrefaeey, A., & Elzeiny, D. A. (2025) · Egyptian Journal of Basic and Applied Sciences · doi:10.1080/2314808x.2026.2620915
Hereditary Genetic Mutations in Polycystic Ovary Syndrome (PCOS): Current State of the Problem
Osinnyaya, M. R., Shestakov, E. R., Ovcharova, E. V., Muradalieva, M. S., Shuchkina, M. V., Omarova, Z. G., Shabanova, E. V., Lysyuk, V. V., Kovyrshina, D. S., & Pererva, V. V. (2026) · Journal Of Biochemical Technology · doi:10.51847/gm40s1ua1t
Integrative Multi‐omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome
Guo, R., Liao, D., Huang, J., & Dong, B. (2026) · The FASEB Journal · doi:10.1096/fj.202601567r
Prevalence of polycystic ovary syndrome among college students in kashmir (J&K) india: a cross-sectional study
Ganie, M. A., Hassan, M. T., Sudershan, A., Raina, R. J., Shah, M., Fidda, M. U., Pushap, A. C., Gaffar, S., & Lee, S. J. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1912986

New Horizons in the Genetics of Polycystic Ovary Syndrome: From Predisposition to Precision Medicine.
Gonzalez, A., Marcos, A. T., Cortés, M. D. M. M., Campos, P. G., Cañizal, P. G., & Navarro-Pando, J. M. (2026) · The Journal of Reproduction · doi:10.58779/tjorvol4num1/8
Recent Advances in the Genetics of Polycystic Ovary Syndrome
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POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS)
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Further Investigation in Europeans of Susceptibility Variants for Polycystic Ovary Syndrome Discovered in Genome-Wide Association Studies of Chinese Individuals
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Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach
Nautiyal, H., Imam, S. S., Alshehri, S., Ghoneim, M. M., Afzal, M., Alzarea, S. I., Güven, E., Al-Abbasi, F. A., & Kazmi, I. A. (2022) · Biomedicines · doi:10.3390/biomedicines10030540 · Cited by 68 · see citing works

Authors: Welt, C. K.
Affiliations: University of Utah (US)
Corresponding author: Welt, Corrine K.
ORCID: Welt, Corrine K.
Venue: Endocrinology and Metabolism Clinics of North America
Publisher: Elsevier BV
Published: 2021-03
Volume: 50
Issue: 1
Pages: 71-82
ISSN: 0889-8529 (ISSN-L)
DOI: 10.1016/j.ecl.2020.10.006
PMC: PMC8045670
OpenAlex: W3121505463
Cited by: 43
References: 54
Citations by year: 2026: 5 · 2025: 7 · 2024: 18 · 2023: 5 · 2022: 6 · 2021: 2
FWCI: 1.27
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Endocrinology and Metabolism Clinics of North America (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD065029)
American Diabetes Association (1_10_CT-57)
Topics: Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: polycystic ovary syndrome, genetic susceptibility loci, genetic architecture, genome-wide association study, polygenic risk score, precision medicine, Han Chinese women, European women
MeSH terms: Female, Genotype, Humans, Polycystic Ovary Syndrome, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study

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