Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations
Open accessAbstract
Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in glucose homeostasis. Increased luteinizing hormone relative to follicle-stimulating hormone secretion, insulin resistance and developmental exposure to androgens are hypothesized to play a causal role in PCOS. Here we map common genetic susceptibility loci in European ancestry women for the National Institutes of Health PCOS phenotype, which confers the highest risk for metabolic morbidities, as well as reproductive hormone levels. Three loci reach genome-wide significance in the case-control meta-analysis, two novel loci mapping to chr 8p23.1 [Corrected] and chr 11p14.1, and a chr 9q22.32 locus previously found in Chinese PCOS. The same chr 11p14.1 SNP, rs11031006, in the region of the follicle-stimulating hormone B polypeptide (FSHB) gene strongly associates with PCOS diagnosis and luteinizing hormone levels. These findings implicate neuroendocrine changes in disease pathogenesis.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
PCOS is a polygenic trait that results from an interaction between susceptible genomic variants and the environment.
“PCOS is therefore viewed as a polygenic trait that results from an interaction between susceptible genomic variants and the environment.”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [88]
The Discussion (page unavailable) describes PCOS as a complex genetic disease and reports multiple susceptibility loci with small individual effects, supporting the polygenic part of the claim. Our copy does not state that PCOS results from an interaction between those variants and the environment; its discussion of other contributors to heritability does not establish that interaction. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe first GWAS analysis of quantitative traits was published in 2015 and showed that variant rs11031006 was associated with luteinizing hormone levels.
“The first GWAS analysis of quantitative traits was published in 2015 and showed that a variant (rs11031006) was associated with luteinizing hormone levels [88].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [88]
The Results (Quantitative trait analysis; page unavailable) report that rs11031006 was associated with luteinizing hormone levels in the study’s GWAS of women with PCOS. The copy does not establish that this was the first GWAS analysis of quantitative traits; the Discussion describes an earlier GWAS of quantitative hormone levels in men. (LLM, conf=0.84)
Experimental — accuracy not yet measuredDecades of genetic research has characterized PCOS as a polygenic trait that results from interactions between the environment and susceptible genomic traits.
“Decades of genetic research has therefore characterized PCOS as a polygenic trait that results from interactions between the environment and susceptible genomic traits [27,29,79,88].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [88]
The Discussion (page not supplied) describes PCOS as a complex genetic disease and reports multiple susceptibility loci with small effects, supporting its characterization as polygenic. The cited passages do not establish that PCOS results from interactions between environmental factors and susceptible genomic traits. (LLM, conf=0.86)
Experimental — accuracy not yet measuredSimilarities in IR may be related to genetic variations that are preserved across NIH and Rotterdam criteria, suggesting a homogenous disease origin linked to insulin-related genes.
“Similarities in IR may be related to genetic variations that are preserved across these criteria (Chen et al., 2011;Day et al., 2015;Hayes et al., 2015), suggesting a homogenous disease origin linked to insulin-related genes (Shi et al., 2012).”
From Insulin resistance in polycystic ovary syndrome: a systematic review and meta-analysis of euglycaemic–hyperinsulinaemic clamp studies (2016) · cites this paper as Hayes et al., 2015
The Discussion (page unavailable) reports a PCOS susceptibility locus found in both the NIH-phenotype cohort and a Chinese cohort that included additional Rotterdam phenotypes. It does not link that shared locus to similarities in insulin resistance (IR); it says the NIH phenotype has the highest IR risk and emphasizes gonadotropin-related genes. The sentence cites Shi et al., not Hayes et al., for the separate suggestion about insulin-related genes. (LLM, conf=0.84)
Experimental — accuracy not yet measuredRecent genetic analyses have found the same PCOS susceptibility loci in self-reported and rigorously diagnosed women with PCOS.
“However, recent genetic analyses have found the same PCOS susceptibility loci in self-reported and rigorously diagnosed women with PCOS (38, 39).”
From Delayed Diagnosis and a Lack of Information Associated With Dissatisfaction in Women With Polycystic Ovary Syndrome (2016) · cites this paper as [38]
The Methods (Subjects; page unavailable) state that the PCOS cases met NIH diagnostic criteria, and the Discussion (page unavailable) identifies susceptibility loci found in those cases. Our copy does not compare those loci with loci in women whose PCOS was self-reported, so it does not establish the claimed overlap. (LLM, conf=0.86)
Experimental — accuracy not yet measured
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 [88]
Recent genome-wide association studies in Caucasian and Asian PCOS populations report preservation of genes across both NIH and Rotterdam criteria.
“recent genome-wide association studies in Caucasian (Day et al., 2015;Hayes et al., 2015) and Asian (Chen et al., 2011;Shi et al., 2012) PCOS populations report preservation of genes across both criteria.”
From Insulin resistance in polycystic ovary syndrome: a systematic review and meta-analysis of euglycaemic–hyperinsulinaemic clamp studies (2016) · cites this paper as Hayes et al., 2015
GWASs involving women of Han Chinese and European origins have identified at least 16 susceptibility loci for PCOS.
“GWASs involving women of Han Chinese and European origins have identified at least 16 susceptibility loci for PCOS [113–116].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [115]
Genes involved in HPO axis function, that is, LHCGR, FSHR, and FSHB, were identified in these GWASs implicating gonadotropins in the pathophysiology of PCOS.
“Genes involved in HPO axis function, that is, LHCGR, FSHR, and FSHB, were identified in these GWASs implicating gonadotropins in the pathophysiology of PCOS [115].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [115]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
1 retracted
Díaz‐Perales, A., Quesada, V., Sánchez, L. M., Ugalde, A. P., Suárez, M. F., Fueyo, A., & López-Otı́n, C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m413222200 · Cited by 44 · see citing works
RetractedPLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
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 · see citing works
(2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.10.004 · Cited by 9,050 · see citing works
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · see citing works
Self-citationGCTA: a tool for genome-wide complex trait analysis
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.011 · Cited by 8,279 · see citing works
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
Genetic studies of body mass index yield new insights for obesity biology
Study, T. L. C., Locke, A. E., The ADIPOGen Consortium, The AGEN-BMI Working Group, The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The, G. L. G. C., The, I. C. B. P., The MAGIC Investigators, The MuTHER Consortium, et al. (2015) · Nature · doi:10.1038/nature14177 · Cited by 4,534 · see citing works
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438 · see citing works
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Witchel, S. F., Oberfield, S., Rosenfield, R. L., Codner, E., Bonny, A., Ibáñez, L., Pena, A., Horikawa, R., Gomez-Lobo, V., Joel, D., et al. (2015) · Hormone Research in Paediatrics · doi:10.1159/000375530 · Cited by 3,113 · see citing works
A new multipoint method for genome-wide association studies by imputation of genotypes
Marchini, J., Howie, B., Myers, S., McVean, G., & Donnelly, P. (2007) · Nature Genetics · doi:10.1038/ng2088 · Cited by 2,609 · see citing works
Inference of human population history from individual whole-genome sequences
Li, H., & Durbin, R. (2011) · Nature · doi:10.1038/nature10231 · Cited by 2,590 · see citing works
Azziz, R., Carmina, E., Dewailly, D., Diamanti-Kandarakis, E., Escobar-Morreale, H. F., Futterweit, W., Janssen, O. E., Legro, R. S., Norman, R. J., Taylor, A. E., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0178 · Cited by 2,143 · see citing works
Self-citationFauser, B. C. J. M., Tarlatzis, B. C., Rebar, R. W., Legro, R. S., Balen, A. H., Lobo, R., Carmina, E., Chang, J., Yildiz, B. O., Laven, J. S. E., et al. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2011.09.024 · Cited by 1,976 · see citing works
Self-citationDiamanti-Kandarakis, E., & Dunaif, A. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1034 · Cited by 1,947 · see citing works
Self-citationA linear complexity phasing method for thousands of genomes
Delaneau, O., Marchini, J., & Zagury, J.-F. (2012) · Nature Methods · doi:10.1038/nmeth.1785 · Cited by 1,850 · see citing works
Searching for genetic determinants in the new millennium
Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839 · see citing works
Browning, B. L., & Browning, S. R. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.005 · Cited by 1,640 · see citing works
Knochenhauer, E. S., Key, T. J., Kahsar-Miller, M., Waggoner, W., Boots, L. R., & Azziz, R. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.9.5090 · Cited by 1,568 · see citing works
Self-citationKnochenhauer, E. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.83.9.3078 · Cited by 1,134 · see citing works
Diamanti‐Kandarakis, E., Kouli, C., Bergiele, A. T., Filandra, F. A., Tsianateli, T. C., Spina, G., Zapanti, E. D., & Bartzis, M. I. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.11.6148 · Cited by 1,107 · see citing works
Self-citationChen, Z.-J., Zhao, H., He, L., Shi, Y., Qin, Y., Shi, Y., Li, Z., You, L., Zhao, J., Liu, J., et al. (2011) · Nature Genetics · doi:10.1038/ng.732 · Cited by 782 · see citing works
Self-citationEvidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome
Legro, R. S., Driscoll, D., Strauss, J. F., Fox, J., & Dunaif, A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.25.14956 · Cited by 699 · see citing works
Self-citationthe eMERGE Team, McCarty, C. A., Chisholm, R. L., Chute, C. G., Kullo, I. J., Jarvik, G. P., Larson, E. B., Li, R., Masys, D. R., Ritchie, M. D., et al. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-13 · Cited by 692 · see citing works
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
Shi, Y., Zhao, H., Shi, Y., Cao, Y., Yang, D., Li, Z., Zhang, B., Liang, X., Li, T., Chen, J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2384 · Cited by 678 · see citing works
Self-citationLetrozole versus Clomiphene for Infertility in the Polycystic Ovary Syndrome
Legro, R. S., Brzyski, R. G., Diamond, M. P., Coutifaris, C., Schlaff, W. D., Casson, P. R., Christman, G. M., Huang, H., Yan, Q., Alvero, R. J., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1313517 · Cited by 671 · see citing works
Self-citationHeritability of polycystic ovary syndrome in a Dutch twin-family study
Vink, J. M., Sadrzadeh, S., Lambalk, C. B., & Boomsma, D. I. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1494 · Cited by 647 · see citing works
Quantitative trait loci on chromosomes 3 and 17 influence phenotypes of the metabolic syndrome
Kissebah, A. H., Sonnenberg, G. E., Myklebust, J. B., Goldstein, M., Broman, K. W., James, R. G., Marks, J., Krakower, G. R., Jacob, H. J., Weber, J. L., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.26.14478 · Cited by 629 · see citing works
Self-citationCharacterization of the inappropriate gonadotropin secretion in polycystic ovary syndrome.
Rebar, R. W., Judd, H. L., Yen, S. S. C., Rakoff, J. S., Vandenberg, G., & Naftolin, F. N. (1976) · Journal of Clinical Investigation · doi:10.1172/jci108400 · Cited by 615 · see citing works
Follicle dynamics and anovulation in polycystic ovary syndrome
Franks, S., Stark, J., & Hardy, K. (2008) · Human Reproduction Update · doi:10.1093/humupd/dmn015 · Cited by 581 · see citing works
Self-citationBayesian inference of ancient human demography from individual genome sequences
Gronau, I., Hubisz, M. J., Gulko, B., Danko, C. G., & Siepel, A. C. (2011) · Nature Genetics · doi:10.1038/ng.937 · Cited by 580 · see citing works
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
de Bakker, P. I. W., Ferreira, M. A. R., Jia, X., Neale, B. M., Raychaudhuri, S., & Voight, B. F. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn288 · Cited by 531 · see citing works
Genomewide Association Studies — Illuminating Biologic Pathways
Hirschhorn, J. N. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0808934 · Cited by 510 · see citing works
Developmental origin of polycystic ovary syndrome—a hypothesis
Abbott, D., Dumesic, D., & Franks, S. (2002) · Journal of Endocrinology · doi:10.1677/joe.0.1740001 · Cited by 504 · see citing works
Self-citationQuality control and quality assurance in genotypic data for genome‐wide association studies
Laurie, C. C., Doheny, K. F., Mirel, D. B., Pugh, E., Bierut, L. J., Bhangale, T., Boehm, F. J., Caporaso, N. E., Cornelis, M. C., Edenberg, H. J., et al. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20516 · Cited by 472 · see citing works
Voight, B. F., Kang, H. M., Ding, J., Palmer, C. D., Sidore, C., Chines, P. S., Burtt, N. P., Fuchsberger, C., Li, Y., Erdmann, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002793 · Cited by 464 · see citing works
Self-citationProbABEL package for genome-wide association analysis of imputed data
Aulchenko, Y. S., Struchalin, M. V., & van Duijn, C. M. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-134 · Cited by 396 · see citing works
Eagleson, C. A., Gingrich, M. B., Pastor, C. L., Arora, T. K., Solorzano, C. M. B., Evans, W. S., & Marshall, J. C. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.11.6992 · Cited by 368 · see citing works
Quality Control Procedures for Genome‐Wide Association Studies
Turner, S., Armstrong, L. L., Bradford, Y., Carlson, C. S., Crawford, D. C., Crenshaw, A., de Andrade, M., Doheny, K. F., Haines, J. L., Hayes, M. G., et al. (2011) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0119s68 · Cited by 358 · see citing works
Self-citationBandaru, V. (2002) · DNA repair · doi:10.1016/s1568-7864(02)00036-8 · Cited by 329 · see citing works
Chalasani, N., Guo, X., Loomba, R. S., Goodarzi, M. O., Haritunians, T., Kwon, S., Cui, J., Taylor, K. D., Wilson, L., Cummings, O. W., et al. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.07.057 · Cited by 315 · see citing works
Self-citationEagleson, C. A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.11.4047 · Cited by 286 · see citing works
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
Costa, V., Aprile, M., Esposito, R., & Ciccodicola, A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.129 · Cited by 266 · see citing works
Genetic determinants of serum testosterone concentrations in men
Ohlsson, C., Wallaschofski, H., Lunetta, K. L., Stolk, L., Perry, J. R. B., Koster, A., Petersen, A.-K., Eriksson, J., Lehtimäki, T., Huhtaniemi, I. T., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002313 · Cited by 224 · see citing works
Fauser, B. C. J. M., Diedrich, K., & Devroey, P. (2007) · Human Reproduction Update · doi:10.1093/humupd/dmm034 · Cited by 220 · see citing works
Johnstone, E. B., Rosen, M. P., Neril, R., Trevithick, D., Sternfeld, B., Murphy, R. C., Addauan-Andersen, C., McConnell, D. S., Pera, R. A. R., & Cedars, M. I. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0202 · Cited by 200 · see citing works
Goodarzi, M. O., Jones, M. R., Li, X., Chua, A. K., Garcia, O. A., Chen, Y. I., Krauss, R. M., Rotter, J. I., Ankener, W., Legro, R. S., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100427 · Cited by 200 · see citing works
Self-citationDiamanti‐Kandarakis, E., & Panidis, D. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02954.x · Cited by 183 · see citing works
Self-citationVariants inDENND1AAre Associated with Polycystic Ovary Syndrome in Women of European Ancestry
Welt, C. K., Styrkársdóttir, U., Ehrmann, D. A., Þorleifsson, G., Arason, G., Guðmundsson, J. A., Ober, C., Rosenfield, R. L., Saxena, R., Þorsteinsdóttir, U., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-3478 · Cited by 168 · see citing works
Self-citationPolycystic ovary syndrome: An ancient disorder?
Azziz, R., Dumesic, D. A., & Goodarzi, M. O. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.09.032 · Cited by 164 · see citing works
Self-citationPaul, P., van den Hoorn, T., Jongsma, M. L. M., Bakker, M. J., Hengeveld, R. C. C., Janssen, L., Cresswell, P., Egan, D. A., van Ham, S. M., ten Brinke, A., et al. (2011) · Cell · doi:10.1016/j.cell.2011.03.023 · Cited by 155 · see citing works
Combined Effects of the VariantsFSHB−211G>T andFSHR2039A>G on Male Reproductive Parameters
Tüttelmann, F., Laan, M., Grigorova, M., Punab, M., Sõber, S., & Gromoll, J. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1761 · Cited by 134 · see citing works
Mutharasan, P., Galdones, E., Bernabé, B. P., Garcia, O. A., Jafari, N., Shea, L. D., Woodruff, T. K., Legro, R. S., Dunaif, A. E., & Urbanek, M. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2471 · Cited by 133 · see citing works
Self-citationWood, J. R., Ho, C. K. M., Nelson-DeGrave, V. L., McAllister, J. M., & Strauss, J. F. (2004) · Journal of Reproductive Immunology · doi:10.1016/j.jri.2004.01.010 · Cited by 130 · see citing works
Watkins, P. C., Eddy, R. L., Beck, A. K., Vellucci, V. F., Leverone, B., Tanzi, R. E., Gusella, J. F., & Shows, T. B. (1987) · DNA · doi:10.1089/dna.1987.6.205 · Cited by 129 · see citing works
Legro, R. S., Chiu, P., Kunselman, A. R., Bentley, C. M., Dodson, W. C., & Dunaif, A. E. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0219 · Cited by 125 · see citing works
Self-citationLegro, R. S., Myers, E. R., Barnhart, H. X., Carson, S. A., Diamond, M. P., Carr, B. R., Schlaff, W. D., Coutifaris, C., McGovern, P. G., Cataldo, N. A., et al. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.03.037 · Cited by 111 · see citing works
Self-citationUrbanek, M., Sam, S., Legro, R. S., & Dunaif, A. E. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0761 · Cited by 111 · see citing works
Self-citationCui, L., Zhao, H., Zhang, B., Qu, Z., Liu, J., Liang, X., Zhao, X., Zhao, J., Sun, Y., Wang, P., et al. (2012) · Human Reproduction · doi:10.1093/humrep/des424 · Cited by 110 · see citing works
Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome
Lee, H., Oh, J. Y., Sung, Y., Chung, H., Kim, H., Kim, G. S., Cho, Y. S., & Kim, J. T. (2015) · Human Reproduction · doi:10.1093/humrep/deu352 · Cited by 98 · see citing works
Baldinu, P., Cossu, A., Manca, A., Satta, M. P., Sini, M. C., Rozzo, C., Dessole, S., Cherchi, P. L., Gianfrancesco, F., Pintus, A., et al. (2004) · Human Mutation · doi:10.1002/humu.20015 · Cited by 93 · see citing works
Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Franks, S., Webber, L. J., Goh, M. J., Valentine, A., White, D. M., Conway, G. S., Wiltshire, S., & McCarthy, M. I. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0369 · Cited by 88 · see citing works
Self-citationThe Cloning and Characterization of a Novel Human Diacylglycerol Kinase, DGKι
Ding, L., Traer, E. A., McIntyre, T. M., Zimmerman, G. A., & Prescott, S. M. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.49.32746 · Cited by 86 · see citing works
Zuvich, R. L., Armstrong, L. L., Bielinski, S. J., Bradford, Y., Carlson, C. S., Crawford, D. C., Crenshaw, A., de Andrade, M., Doheny, K. F., Haines, J. L., et al. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20639 · Cited by 85 · see citing works
Self-citationRosenfield, R. L., Mortensen, M., Wroblewski, K., Littlejohn, E., & Ehrmann, D. A. (2011) · Human Reproduction · doi:10.1093/humrep/der291 · Cited by 79 · see citing works
Self-citationSalameh, W. A., Goldman, M. M., Clarke, N. J., Mathur, R., Azziz, R., & Reitz, R. E. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.12.056 · Cited by 67 · see citing works
Self-citationThe gonadotropin genes: evolution of distinct mechanisms for hormonal control.
Albanese, C., Colin, I. M., Crowley, W. F., Ito, M., Pestell, R. G., Weiss, J., & Jameson, J. L. (1996) · PubMed · Cited by 66 · see citing works
Alterations of folliculogenesis in women with polycystic ovary syndrome
Sander, V. A., Hapon, M. B., Sicaro, L. V., Lombardi, E., Jahn, G. A., & Motta, A. B. (2011) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2011.01.008 · Cited by 50 · see citing works
Persistent Apparent Pancreatic β-Cell Defects in Premenarchal PCOS Relatives
Torchen, L. C., Fogel, N. R., Brickman, W. J., Paparodis, R. D., & Dunaif, A. E. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1474 · Cited by 34 · see citing works
Self-citationGenetics, genomics, and their relevance to pathology and therapy
Ombrello, M. J., Sikora, K. A., & Kastner, D. L. (2014) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2014.05.001 · Cited by 24 · see citing works
The Fanconi Anemia Group C Protein Interacts with Uncoordinated 5A and Delays Apoptosis
Huang, F., Aissa, M. B., Magron, A., Huard, C., Godin, C., Lévesque, G., & Carreau, M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0092811 · Cited by 11 · see citing works
The GATA-Keepers of Ovarian Development and Folliculogenesis
LaVoie, H. A. (2014) · Biology of Reproduction · doi:10.1095/biolreprod.114.122499 · Cited by 11 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Polycystic Ovary Syndrome: Definition, Aetiology, Diagnosis and Treatment
Escobar-Morreale, H. F. (2018) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2018.24 · Cited by 2,083 · see citing works
Azziz, R., Carmina, E., Chen, Z., Dunaif, A., Laven, J. S. E., Legro, R. S., Lizneva, D., Natterson-Horowtiz, B., Teede, H. J., & Yildiz, B. O. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.57 · Cited by 2,005 · see citing works
Self-citationRosenfield, R. L., & Ehrmann, D. A. (2016) · Endocrine Reviews · doi:10.1210/er.2015-1104 · Cited by 1,603 · see citing works
Self-citationDumesic, D. A., Oberfield, S. E., Stener-Victorin, E., Marshall, J. C., Laven, J. S., & Legro, R. S. (2015) · Endocrine Reviews · doi:10.1210/er.2015-1018 · Cited by 1,020 · see citing works
Self-citationDay, F., Karaderi, T., Jones, M. R., Meun, C., He, C., Drong, A., Kraft, P., Lin, N., Huang, H., Broer, L., et al. (2018) · PLOS Genetics · doi:10.1371/journal.pgen.1007813 · Cited by 619 · see citing works
Self-citationThe Prevalence of Polycystic Ovary Syndrome: A Brief Systematic Review
Pundir, C., Deswal, R., Narwal, V., & Dang, A. (2020) · Journal of Human Reproductive Sciences · doi:10.4103/jhrs.jhrs_95_18 · Cited by 657 · see citing works
Witchel, S. F., Oberfield, S. E., & Peña, A. S. (2019) · Journal of the Endocrine Society · doi:10.1210/js.2019-00078 · Cited by 653 · see citing works
Stener-Victorin, E., Teede, H., Norman, R. J., Legro, R., Goodarzi, M. O., Dokras, A., Laven, J., Hoeger, K., & Piltonen, T. T. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00511-3 · Cited by 495 · see citing works
Self-citationIbáñez, L., Oberfield, S. E., Witchel, S., Auchus, R. J., Chang, R. J., Codner, E., Dabadghao, P., Darendeliler, F., Elbarbary, N. S., Gambineri, A., et al. (2017) · Hormone Research in Paediatrics · doi:10.1159/000479371 · Cited by 463 · see citing works
Self-citationCharacteristics of obesity in polycystic ovary syndrome: Etiology, treatment, and genetics
Glueck, C. J., & Goldenberg, N. (2019) · Metabolism · doi:10.1016/j.metabol.2018.11.002 · Cited by 442 · see citing works
Gibson-Helm, M., Teede, H., Dunaif, A., & Dokras, A. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2963 · Cited by 428 · see citing works
“However, recent genetic analyses have found the same PCOS susceptibility loci in self-reported and rigorously diagnosed women with PCOS (39, 40).”
BackgroundSelf-citationCassar, S., Misso, M. L., Hopkins, W. G., Shaw, C. S., Teede, H. J., & Stepto, N. K. (2016) · Human Reproduction · doi:10.1093/humrep/dew243 · Cited by 415 · see citing works
Animal Models to Understand the Etiology and Pathophysiology of Polycystic Ovary Syndrome
Stener‐Victorin, E., Padmanabhan, V., Walters, K. A., Campbell, R. E., Benrick, A., Giacobini, P., Dumesic, D. A., & Abbott, D. H. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa010 · Cited by 378 · see citing works
Self-citationBlocking FSH induces thermogenic adipose tissue and reduces body fat
Liu, P., Ji, Y., Yuen, T., Rendina-Ruedy, E., DeMambro, V., Dhawan, S., Abu‐Amer, W., Izadmehr, S., Zhou, B., Shin, A. C., et al. (2017) · Nature · doi:10.1038/nature22342 · Cited by 343 · see citing works
Lim, S. S., Kakoly, N. S., Tan, J. W. J., Fitzgerald, G., Bahri Khomami, M., Joham, A. E., Cooray, S. D., Misso, M. L., Norman, R. J., Harrison, C. L., et al. (2019) · Obesity Reviews · doi:10.1111/obr.12762 · Cited by 316 · see citing works
“Genomewide association studies have identified susceptibility loci for PCOS in Chinese and European women (74,75).”
BackgroundDapas, M., Lin, F. T. J., Nadkarni, G. N., Sisk, R., Legro, R. S., Urbanek, M., Hayes, M. G., & Dunaif, A. (2020) · PLOS Medicine · doi:10.1371/journal.pmed.1003132 · Cited by 297 · see citing works
Self-citationDeconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300 · see citing works
Self-citationPolycystic ovary syndrome and risk of type 2 diabetes, coronary heart disease, and stroke
Zhu, T., Cui, J., & Goodarzi, M. O. (2021) · Diabetes · doi:10.2337/db20-0800 · Cited by 226 · see citing works
Self-citationQasim, A., Turcotte, M., de Souza, R. J., Samaan, M. C., Champredon, D., Dushoff, J., Speakman, J. R., & Meyre, D. (2018) · Obesity Reviews · doi:10.1111/obr.12625 · Cited by 241 · see citing works
Epidemiology, pathogenesis, genetics & management of polycystic ovary syndrome in India
Ganie, M. A., Vasudevan, V., Wani, I. A., Baba, M. S., Arif, T., & Rashid, A. (2019) · Indian Journal of Medical Research · doi:10.4103/ijmr.ijmr_1937_17 · Cited by 232 · see citing works
Caldwell, A. S. L., Edwards, M. C., Desai, R., Jimenez, M., Gilchrist, R. B., Handelsman, D. J., & Walters, K. A. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1616467114 · Cited by 222 · see citing works
Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update
Richards, J. S., Ren, Y. A., Candelaria, N. R., Adams, J. E., & Rajkovic, A. (2017) · Endocrine Reviews · doi:10.1210/er.2017-00164 · Cited by 204 · see citing works
Polycystic ovary syndrome: a “risk-enhancing” factor for cardiovascular disease
Guan, C. S., Zahid, S., Minhas, A., Ouyang, P., Vaught, A. “. J., Baker, V. L., & Michos, E. D. (2022) · Fertility and Sterility · doi:10.1016/j.fertnstert.2022.03.009 · Cited by 207 · see citing works
Self-citationPolycystic ovary syndrome and environmental toxins
Rutkowska, A. Z., & Diamanti‐Kandarakis, E. (2016) · Fertility and Sterility · doi:10.1016/j.fertnstert.2016.08.031 · Cited by 191 · see citing works
Self-citationNew Perspectives on the Pathogenesis of PCOS: Neuroendocrine Origins
Walters, K. A., Gilchrist, R. B., Ledger, W. L., Teede, H. J., Handelsman, D. J., & Campbell, R. E. (2018) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2018.08.005 · Cited by 186 · see citing works
Progesterone Actions and Resistance in Gynecological Disorders
MacLean, J. A., & Hayashi, K. (2022) · Cells · doi:10.3390/cells11040647 · Cited by 196 · see citing works
“Dysregulation of hypothalamic GnRH and pituitary luteinizing hormone (LH) secretions [223,224], especially the high-frequency pulsatile release of GnRH following hypersecretion of LH, contribute to hyperandrogenisms [225].”
BackgroundA review: Brief insight into Polycystic Ovarian syndrome
Bulsara, J., Patel, P. R., Soni, A., & Acharya, S. R. (2021) · Endocrine and Metabolic Science · doi:10.1016/j.endmts.2021.100085 · Cited by 168 · see citing works
An update of genetic basis of PCOS pathogenesis
Crespo, R. P., Bachega, T. A. S. S., Mendonça, B. B., & Gomes, L. G. (2018) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000049 · Cited by 138 · see citing works
“These data were validated in Caucasians, confirming the presence of 12 out of the 17 variants with the same risk effect, indicating a similar genetic risk profile in different populations (43-48).”
MethodNew insights into the genetics of polycystic ovary syndrome
Azziz, R. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.230 · Cited by 142 · see citing works
Self-citationEpigenetic and Transcriptional Alterations in Human Adipose Tissue of Polycystic Ovary Syndrome
Kokosar, M., Benrick, A., Perfilyev, A., Fornes, R., Nilsson, E., Maliqueo, M., Behre, C. J., Sazonova, A., Ohlsson, C., Ling, C., et al. (2016) · Scientific Reports · doi:10.1038/srep22883 · Cited by 137 · see citing works
Self-citationIs foetal hyperexposure to androgens a cause of PCOS?
Filippou, P., & Homburg, R. (2017) · Human Reproduction Update · doi:10.1093/humupd/dmx013 · Cited by 152 · see citing works
Hyperandrogenic origins of polycystic ovary syndrome-Implications for Pathophysiology and Therapy
Abbott, D. H., Dumesic, D. A., & Levine, J. E. (2019) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2019.1576522 · Cited by 131 · see citing works
Hiam, D., Moreno‐Asso, A., Teede, H. J., Laven, J. S. E., Stepto, N. K., Moran, L., & Gibson‐Helm, M. E. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8101606 · Cited by 126 · see citing works
“2 rs10841843 rs6487237 rs7485509 GYS2 Hayes et al., 2015 [13] NIH 8p32.”
BackgroundHarada, M. (2022) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12487 · Cited by 125 · see citing works
Diagnosis of Polycystic Ovary Syndrome
Chang, S., & Dunaif, A. E. (2021) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2020.10.002 · Cited by 123 · see citing works
Self-citationWitchel, S. F., Teede, H. J., & Peña, A. S. (2019) · Pediatric Research · doi:10.1038/s41390-019-0615-1 · Cited by 129 · see citing works
Genetic determinants of polycystic ovary syndrome: Progress and future directions
Jones, M. R., & Goodarzi, M. O. (2016) · Fertility and Sterility · doi:10.1016/j.fertnstert.2016.04.040 · Cited by 117 · see citing works
Self-citationPolycystic Ovary Syndrome: Pathophysiology and Therapeutic Opportunities
Dong, J., & Rees, D. A. (2023) · BMJ Medicine · doi:10.1136/bmjmed-2023-000548 · Cited by 123 · see citing works
Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
parker, J., O'Brien, C., Hawrelak, J., & Gersh, F. (2021) · doi:10.20944/preprints202112.0088.v1 · Cited by 113 · see citing works
Follicle Stimulating Hormone Receptor (FSHR) Polymorphisms and Polycystic Ovary Syndrome (PCOS)
Laven, J. S. E. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00023 · Cited by 111 · see citing works
Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
Parker, J., O’Brien, C., Hawrelak, J., & Gersh, F. L. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph19031336 · Cited by 114 · see citing works
“The first GWAS analysis of quantitative traits was published in 2015 and showed that a variant (rs11031006) was associated with luteinizing hormone levels [88].”
BackgroundZhu, S., Zhang, B., Jiang, X., Li, Z., Zhao, S., Cui, L., & Chen, Z.-J. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.09.013 · Cited by 109 · see citing works
Franks, S., & Hardy, K. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00452 · Cited by 109 · see citing works
Self-citationPathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome
Gorsic, L. K., Kosova, G., Werstein, B., Sisk, R. K., Legro, R. S., Hayes, M. G., Teixeira, J. M., Dunaif, A. E., & Urbanek, M. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-00612 · Cited by 104 · see citing works
Self-citationGenetics of polycystic ovary syndrome
Mykhalchenko, K., Lizneva, D., Trofimova, T., Walker, W., Сутурина, Л. В., Diamond, M. P., & Azziz, R. (2017) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2017.1340833 · Cited by 124 · see citing works
Self-citationPolycystic ovary syndrome: Understanding the role of the brain
Moore, A. M., & Campbell, R. E. (2017) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2017.05.002 · Cited by 97 · see citing works
“…signalling and folliculogenesis in PCOS patients of Han Chinese and European descent (Unsal et al., 2009, Gu et al., 2010, Chen et al., 2011, Dolfin et al., 2011, Goodarzi et al., 2012, Shi et al., 2012, Welt et al., 2012, Cui et al., 2013, McAllister et al., 2014, Hayes et al., 2015, Azziz, 2016).”
BackgroundEvidence from animal models on the pathogenesis of PCOS
Walters, K. A., Bertoldo, M. J., & Handelsman, D. J. (2018) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2018.03.008 · Cited by 96 · see citing works
Tyrmi, J. S., Arffman, R. K., Pujol‐Gualdo, N., Kurra, V., Morin-Papunen, L. C., Sliz, E., FinnGen, Piltonen, T., Laisk, T., Kettunen, J., et al. (2021) · Human Reproduction · doi:10.1093/humrep/deab250 · Cited by 93 · see citing works
“…association studies (GWAS) and meta-analysis studies have been conducted, identifying over 20 susceptibility loci for PCOS (Chen et al. , 2011; Shi et al. , 2012; Day et al. , 2015, 2018; Hayes et al. , 2015; Lee et al. , 2015; Dapas et al. , 2020; Hong et al. , 2020; Zhang et al. , 2020).”
Differential Expression Profile of Plasma Exosomal MicroRNAs in Women with Polycystic Ovary Syndrome
Jiang, X., Li, J., Zhang, B., Hu, J., Ma, J., Cui, L., & Chen, Z.-J. (2021) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.08.019 · Cited by 93 · see citing works
Polycystic ovarian syndrome: Environmental/occupational, lifestyle factors; an overview
Kshetrimayum, C., Sharma, A., Mishra, V. V., & Kumar, S. (2019) · Journal of the Turkish-German Gynecological Association · doi:10.4274/jtgga.galenos.2019.2018.0142 · Cited by 93 · see citing works
“1 SNP, rs11031006, in the region of the FSH B polypeptide gene (38).”
BackgroundDapas, M., Sisk, R. K., Legro, R. S., Urbanek, M., Dunaif, A. E., & Hayes, M. G. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02496 · Cited by 92 · see citing works
Self-citationThe effect of excess body fat on female and male reproduction
Mintziori, G., Nigdelis, M. P., Mathew, H., Mousiolis, A. C., Goulis, D. G., & Mantzoros, C. S. (2020) · Metabolism · doi:10.1016/j.metabol.2020.154193 · Cited by 94 · see citing works
Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Dadachanji, R., Shaikh, N., & Mukherjee, S. (2018) · Genetics Research International · doi:10.1155/2018/7624932 · Cited by 90 · see citing works
Gorsic, L. K., Dapas, M., Legro, R. S., Hayes, M. G., & Urbanek, M. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02178 · Cited by 89 · see citing works
Self-citationJózkowiak, M., Piotrowska‐Kempisty, H., Kobylarek, D., Gorska, N., Mozdziak, P. E., Kempisty, B., Rachoń, D., & Spaczyński, R. (2022) · Cells · doi:10.3390/cells12010174 · Cited by 90 · see citing works
“Furthermore, based on biochemical and genotype data from a previously performed GWAS [30], Dapas et al. have investigated the phenotypic subtypes of PCOS using an unsupervised hierarchical cluster analysis in a genotyped cohort of 893 PCOS women and then replicated the clusters in a cohort of 263 independent, ungenoty…”
MethodInfluentialSørensen, A. E., Wissing, M. L., Englund, A. L. M., & Dalgaard, L. T. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3588 · Cited by 88 · see citing works
“32 c9orf3/FANCC locus identified in both studies includes several microRNA (miRNA) genes potentially implicating miRNAs in PCOS pathogenesis (11).”
BackgroundEffect of maternal PCOS and PCOS-like phenotype on the offspring's health
Puttabyatappa, M., Cardoso, R. C., & Padmanabhan, V. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.11.030 · Cited by 86 · see citing works
“…YAP1 Han Chinese GWAS Li et al., 2012 North European Genotyping Louwers et al., 2013 Follicle-stimulating hormone beta FSHB American Caucasian GWAS Hayes et al., 2015 Day et al., 2015 Fibrillin 3 FBN3 Majority of EuropeanOrigin Genotyping Ewens et al., 2010, Urbanek et al., 2005 Chromosome 9 open…”
BackgroundInfluentialPapadakis, G. E., Kandaraki, E., Tseniklidi, E., Papalou, O., & Diamanti‐Kandarakis, E. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00388 · Cited by 82 · see citing works
“PCOS is considered to have a complex genetic background (2, 18, 19).”
BackgroundSelf-citationBarbieri, R. L. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00022-6 · Cited by 85 · see citing works
Ryan, G. E., Malik, S., & Mellon, P. L. (2018) · Endocrinology · doi:10.1210/en.2017-03218 · Cited by 83 · see citing works
Neuroanatomical Framework of the Metabolic Control of Reproduction
Hill, J. W., & Elias, C. F. (2018) · Physiological Reviews · doi:10.1152/physrev.00033.2017 · Cited by 79 · see citing works
Stepto, N. K., Moreno‐Asso, A., McIlvenna, L. C., Walters, K. A., & Rodgers, R. J. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-00167 · Cited by 78 · see citing works
Perspectives in polycystic ovary syndrome: From hair to eternity
Dunaif, A. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3780 · Cited by 87 · see citing works
“Chromosome Han Chinese; Chen, 2011 (3), and Shi, 2012 (4) European 1; Hayes, 2015 (5) European 2; Day, 2015 (6)”
BackgroundResultInfluentialSelf-citationMutlu, B., Chen, H.-M., Moresco, J. J., Orelo, B. D., Yang, B., Gaspar, J. M., Keppler‐Ross, S., Yates, J. R., Hall, D. H., Maine, E. M., et al. (2018) · Science Advances · doi:10.1126/sciadv.aat6224 · Cited by 77 · see citing works
Genetics and Epigenetics of Infertility and Treatments on Outcomes
Pisarska, M. D., Chan, J. L., Lawrenson, K., Gonzalez, T. L., & Wang, E. T. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01869 · Cited by 79 · see citing works
Owens, L. A., Kristensen, S. G., Lerner, A., Christopoulos, G., Lavery, S., Hanyaloglu, A. C., Hardy, K., Yding Andersen, C., & Franks, S. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-00780 · Cited by 85 · see citing works
Self-citationMendelian randomization analyses for PCOS: evidence, opportunities, and challenges
Wang, C., Wu, W., Yang, H., Ye, Z., Zhao, Y., Liu, J., & Mu, L. (2022) · Trends in Genetics · doi:10.1016/j.tig.2022.01.005 · Cited by 74 · see citing works
Regulation of reproduction via tight control of gonadotropin hormone levels
Coss, D. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.03.022 · Cited by 74 · see citing works
“7 with PCOS, implicating changes in FSH levels with this disorder, maybe through altered estrogen synthesis (Hayes et al., 2015).”
Rare variants in FANCA induce premature ovarian insufficiency
Yang, X., Zhang, X., Jiao, J., Zhang, F., Pan, Y., Wang, Q., Chen, Q., Cai, B., Tang, S., Zhou, Z., et al. (2019) · Human Genetics · doi:10.1007/s00439-019-02059-9 · Cited by 71 · see citing works
Ruth, K. S., Beaumont, R. N., Tyrrell, J., Jones, S. E., Tuke, M. A., Yaghootkar, H., Wood, A. R., Freathy, R. M., Weedon, M. N., Frayling, T. M., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dev318 · Cited by 70 · see citing works
“, 2015), but it has also been associated with increased LH levels (Hayes et al., 2015; Ruth et al., 2015).”
BackgroundZhang, Y., Ho, K., Keaton, J. M., Hartzel, D. N., Day, F., Justice, A. E., Josyula, N. S., Pendergrass, S. A., Actkins, K., Davis, L. K., et al. (2020) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2020.04.004 · Cited by 91 · see citing works
Self-citationInsulin Metabolism in Polycystic Ovary Syndrome: Secretion, Signaling, and Clearance
Herman, R., Sikonja, J., Jensterle, M., Janez, A., & Dolzan, V. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043140 · Cited by 69 · see citing works
Complex genetics of female fertility
Gajbhiye, R., Fung, J. N., & Montgomery, G. W. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0068-1 · Cited by 69 · see citing works
“Familial aggregation and twin studies suggest genetic factors play a strong role in pathogenesis of PCOS with heritability estimates of 70%.(65,66) The first GWAS conducted in Chinese patients in 2011 (Fig.”
BackgroundPolycystic 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
“Candidate gene studies are used to validate GWAS study findings; these studies identify single nucleotide polymorphism (SNP) contributing to PCOS pathophysiology [63,69].”
BackgroundClustering of PCOS-like traits in naturally hyperandrogenic female rhesus monkeys
Abbott, D. H., Rayome, B. H., Dumesic, D. A., Lewis, K. C., Edwards, A. K., Wallen, K., Wilson, M. E., Appt, S. E., & Levine, J. E. (2017) · Human Reproduction · doi:10.1093/humrep/dex036 · Cited by 66 · see citing works
Cardiometabolic Risk in PCOS: More than a Reproductive Disorder
Torchen, L. C. (2017) · Current Diabetes Reports · doi:10.1007/s11892-017-0956-2 · Cited by 65 · see citing works
Polycystic Ovary Syndrome: the Epigenetics Behind the Disease
Eiras, M. C., Pinheiro, D. P., Romcy, K. A. M., Ferriani, R. A., dos Reis, R. M., & Furtado, C. L. M. (2021) · Reproductive Sciences · doi:10.1007/s43032-021-00516-3 · Cited by 65 · see citing works
“RAB5B/SUOX Encodes a member of the RA5 family Nearby SNP related to PCOS risk [16, 23]”
BackgroundInfluentialKhomami, M. B., Boyle, J. A., Tay, C. T., Vanky, E., Teede, H. J., Joham, A. E., & Moran, L. (2018) · Clinical Endocrinology · doi:10.1111/cen.13579 · Cited by 66 · see citing works
The HMGA2-IMP2 Pathway Promotes Granulosa Cell Proliferation in Polycystic Ovary Syndrome
Li, M., Zhao, H., Zhao, S., Wei, D., Zhao, Y., Huang, T., Muhammad, T., Yan, L., Gao, F., Li, L., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00544 · Cited by 64 · see citing works
Self-citationGenetic architecture of acne vulgaris
Lichtenberger, R., Simpson, M. A., Smith, C. H., Barker, J. N., & Navarini, A. A. (2017) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.14385 · Cited by 62 · see citing works
Joo, Y. Y., Actkins, K. V., Pacheco, J. A., Basile, A. O., Carroll, R. J., Crosslin, D. R., Day, F. R., Denny, J. C., Edwards, D. R. V., Hakonarson, H. H., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz326 · Cited by 64 · see citing works
Self-citationPhenotype and genotype of polycystic ovary syndrome in Asia: Ethnic differences
Kim, J., & Choi, Y. M. (2019) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.14132 · Cited by 62 · see citing works
Heilmann‐Heimbach, S., Hochfeld, L. M., Henne, S. K., & Nöthen, M. M. (2020) · Experimental Dermatology · doi:10.1111/exd.14130 · Cited by 60 · see citing works
Tian, Y., Zhao, H., Chen, H., Peng, Y., Cui, L., Du, Y., Wang, Z., Xu, J., & Chen, Z. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3776 · Cited by 60 · see citing works
Genetic Studies on Polycystic Ovary Syndrome
Zhao, H., Lv, Y., Li, L., & Chen, Z. (2016) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2016.04.002 · Cited by 60 · see citing works
Daan, N. M. P., Koster, M. P. H., Steegers‐Theunissen, R. P. M., Eijkemans, M. J. C., & Fauser, B. C. J. M. (2016) · Fertility and Sterility · doi:10.1016/j.fertnstert.2016.09.042 · Cited by 58 · see citing works
“62 Ever smoked during pregnancy 6 (10) 9 (11) .”
BackgroundRomero‐Ruíz, A., Skorupskaite, K., Gaytán, F., Torres, E., Perdices-López, C., Mannaerts, B. M. J. L., Qi, S., León, S., Manfredi-Lozano, M., Lopez-Rodriguez, C., et al. (2019) · Human Reproduction · doi:10.1093/humrep/dez205 · Cited by 59 · see citing works
Skorupskaite, K., George, J. T., Veldhuis, J. D., Millar, R. P., & Anderson, R. A. (2020) · Human Reproduction · doi:10.1093/humrep/deaa104 · Cited by 59 · see citing works
What does acne genetics teach us about disease pathogenesis?
Common, J., Barker, J. N., & Steensel, M. A. M. V. (2019) · British Journal of Dermatology · doi:10.1111/bjd.17721 · Cited by 57 · see citing works
Polycystic Ovary Syndrome (PCOS): Symptoms, Causes, and Treatment
Bai, H., Ding, H., & Wang, M. (2024) · Clinical and Experimental Obstetrics & Gynecology · doi:10.31083/j.ceog5105126 · Cited by 57 · see citing works
The evolutionary biology of endometriosis
Dinsdale, N., Nepomnaschy, P., & Crespi, B. (2021) · Evolution, Medicine, and Public Health · doi:10.1093/emph/eoab008 · Cited by 53 · see citing works
Liu, Q., Tang, B., Zhu, Z., Kraft, P., Deng, Q., Stener‐Victorin, E., & Jiang, X. (2022) · Diabetologia · doi:10.1007/s00125-022-05746-x · Cited by 52 · see citing works
“ARL14EP encodes an effector protein that interacts with ADP-ribosylation factor-like 14, which may control the movement of MHC class II-containing vesicles, contributing to a PCOS diagnosis based on the NIH criteria, which presents the greatest risk for insulin resistance and other metabolic disorders [42].”
BackgroundSelf-citationMiazgowski, T., Martopullo, I., Widecka, J., Miazgowski, B., & Brodowska, A. (2019) · Archives of Medical Science · doi:10.5114/aoms.2019.87112 · Cited by 51 · see citing works
Criteria for Diagnosis of Polycystic Ovary Syndrome during Adolescence: Literature Review
Peña, A. S., Ethel Codner, D., & Witchel, S. F. (2022) · Diagnostics · doi:10.3390/diagnostics12081931 · Cited by 60 · see citing works
The neuroendocrine genesis of polycystic ovary syndrome: A role for arcuate nucleus GABA neurons
Moore, A. M., & Campbell, R. E. (2015) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2015.10.002 · Cited by 51 · see citing works
McAllister, J. M., Han, A. X., Modi, B. P., Teves, M. E., Mavodza, G. R., Anderson, Z. L., Shen, T., Christenson, L. K., Archer, K. J., & Strauss, J. F. (2019) · Endocrinology · doi:10.1210/en.2019-00013 · Cited by 52 · see citing works
Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome
Pau, C. T., Mosbruger, T., Saxena, R., & Welt, C. K. (2017) · PLoS ONE · doi:10.1371/journal.pone.0168870 · Cited by 50 · see citing works
Self-citationYılmaz, B., Vellanki, P., Ata, B., & Yıldız, B. O. (2018) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.04.024 · Cited by 51 · see citing works
Torchen, L. C., Idkowiak, J., Fogel, N. R., O’Neil, D. M., Shackleton, C. H. L., Arlt, W., & Dunaif, A. E. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3926 · Cited by 49 · see citing works
Self-citationPolycystic ovary syndrome: a common reproductive syndrome with long-term metabolic consequences
Yau, T., Ng, N. Y. H., Cheung, L., & Ronald, C. W. (2017) · Hong Kong Medical Journal · doi:10.12809/hkmj176308 · Cited by 48 · see citing works
- Authors
- Hayes, M. G., Urbanek, M., Ehrmann, D. A., Armstrong, L. L., Lee, J. Y., Sisk, R., Karaderi, T., Barber, T. M., McCarthy, M. I., Franks, S., Lindgren, C. M., Welt, C. K., Diamanti-Kandarakis, E., Panidis, D., Goodarzi, M. O., Azziz, R., Zhang, Y., James, R. G., Olivier, M., Kissebah, A. H., Reproductive Medicine Network, Alvero, R., Barnhart, H. X., Baker, V., Barnhart, K. T., Bates, G. W., Brzyski, R. G., Carr, B. R., Carson, S. A., Casson, P., Cataldo, N. A., Christman, G., Coutifaris, C., Diamond, M. P., Eisenberg, E., Gosman, G. G., Giudice, L. C., Haisenleder, D. J., Huang, H., Krawetz, S. A., Lucidi, S., McGovern, P. G., Myers, E. R., Nestler, J. E., Ohl, D., Santoro, N., Schlaff, W. D., Snyder, P., Steinkampf, M. P., Trussell, J. C., Usadi, R., Yan, Q., Zhang, H., Stener-Victorin, E., Legro, R. S., & Dunaif, A.
- Affiliations
- Northwestern University (US)
- University of Chicago (US)
- Centre for Human Genetics (GB)
- University of Warwick (GB)
- Hammersmith Hospital (GB)
- Broad Institute (US)
- University of Utah (US)
- Aristotle University of Thessaloniki (GR)
- Cedars-Sinai Medical Center (US)
- Augusta University (US)
- Medical College of Wisconsin (US)
- Texas Biomedical Research Institute (US)
- University of Colorado Anschutz (US)
- Duke University (US)
- Stanford Medicine (US)
- University of Alabama at Birmingham (US)
- The University of Texas at San Antonio Health Science Center (US)
- Baylor College of Medicine (US)
- University of Vermont (US)
- University of Michigan (US)
- Wayne State University (US)
- National Institutes of Health (US)
- University of Pittsburgh (US)
- University of California, San Francisco (US)
- Yale University (US)
- Virginia Commonwealth University (US)
- SUNY Upstate Medical University (US)
- Carolinas Medical Center (US)
- Corresponding author
- Hayes, M. Geoffrey
- ORCID
- Hayes, M. Geoffrey
- Urbanek, Margrit
- Lee, Ji Young
- Sisk, Ryan
- Karaderi, Tugce
- Barber, Thomas M.
- McCarthy, Mark I.
- Franks, Stephen
- Lindgren, Cecilia M.
- Welt, Corrine K.
- Panidis, Dimitrios
- Goodarzi, Mark O.
- Azziz, Ricardo
- Zhang, Yi
- Olivier, Michael
- Alvero, Ruben
- Barnhart, Huiman X.
- Baker, Valerie
- Barnhart, Kurt T.
- Bates, G. Wright
- Christman, Gregory
- Diamond, Michael P.
- Eisenberg, Esther
- Giudice, Linda C.
- Huang, Hao
- Krawetz, Stephen A.
- McGovern, Peter G.
- Myers, Evan R.
- Ohl, Dana
- Santoro, Nanette
- Snyder, Peter
- Trussell, J. C.
- Usadi, Rebecca
- Legro, Richard S.
- Dunaif, Andrea
- Venue
- Nature Communications
- Published
- 2015-08-18
- Volume
- 6
- Issue
- 1
- Pages
- 10762-10762
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC4557132
- OpenAlex
- W1128977061
- Cited by
- 478
- References
- 72
- Citations by year
- 2026: 23 · 2025: 33 · 2024: 49 · 2023: 90 · 2022: 45 · 2021: 32 · 2020: 42 · 2019: 49 · 2018: 36 · 2017: 34 · 2016: 36 · 2015: 6 · 2014: 1
- FWCI
- 42.57
- Type
- journal article
- Language
- en
- Update notices
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Spiral (Imperial College London) (submittedVersion, cc-by)
- Funders
- American Diabetes Association (1-10-CT-57)
- Yale University
- Wayne State University
- University of Pennsylvania
- University of Chicago (UL1 TR000430)
- Pennsylvania State University
- University of Virginia (U54-HD28934)
- University of Texas at San Antonio
- Wellcome Trust (098381, 086596, WTCCC2, 090532)
- National Institute for Health and Care Research (NF-SI-0611-10099)
- Novo Nordisk Fonden (NNF15OC0015902)
- National Institutes of Health (UL1TR000127, UL1TR000430, UL1TR000150, U54-HD28-934, HD34449, RR025758, HD044405, DK20595, HD28934, TR000430)
- Penn State College of Medicine
- Medical Research Council (MR/M012638/1, G0802782)
- National Heart, Lung, and Blood Institute (R01HL075079)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK065598, DK 20595, R01 DK65598, P60DK020595, R01DK071895, P30DK063491, P30DK020595)
- National Institute of Environmental Health Sciences (P30ES013508)
- National Institute of Child Health and Human Development (U54-HD28934, HD057450, U10 HD38992, U10 HD39005, U10 HD27049, U10 HD38998, HD055944, HD044405, U54 HD34449)
- National Center for Research Resources (UL1RR025758, UL1RR033184)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD057796, U10HD27049, U10HD039005, U54-HD34449, K24HD001346, U10-HD38992, HD-34449, U10-HD39005, HD38992, P50HD044405, U10HD038998, HD29364, P50HD057796, U10HD055942, R01HD029364, HD055942, R01HD065029, R01HD057450, HD38998, HD-28934, HD044405, HD39005, HD055936, K24 HD 01346, U10-HD38998, U10HD055925, R01HD057223, HD055925, HD055944, U54HD028934, U10HD027049, U54HD034449, R01-HD29364, U10HD055944, U10HD038992, P50HD028934, R01HD056510, HD27049, U10HD055936, U54-HD-28934)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- polycystic ovary syndrome, genetic susceptibility loci, gonadotropin secretion, luteinizing hormone, follicle-stimulating hormone, insulin resistance, hyperandrogenism, anovulation, glucose homeostasis, European ancestry women, neuroendocrine regulation
- MeSH terms
- Adolescent, Adult, Female, Gene Expression Regulation, Humans, Middle Aged, Polycystic Ovary Syndrome, Case-Control Studies, Polymorphism, Single Nucleotide, Quantitative Trait Loci, White People, Genome-Wide Association Study, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
