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The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies

1
Institute of Health and Sport, Victoria University, Melbourne 3011, Australia
2
Monash Centre for Health Research and Implementation, School of Public Health and Preventive Medicine, Monash University, Melbourne 3168, Australia
3
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
4
Australian Institute of Musculoskeletal Science (AIMSS), Victoria University, St Albans 3021, Australia
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(10), 1606; https://doi.org/10.3390/jcm8101606
Received: 9 September 2019 / Revised: 26 September 2019 / Accepted: 30 September 2019 / Published: 3 October 2019
(This article belongs to the Special Issue Polycystic Ovary Syndrome: Phenotype and Treatment)
Polycystic Ovary Syndrome (PCOS) is a complex condition with mechanisms likely to involve the interaction between genetics and lifestyle. Familial clustering of PCOS symptoms is well documented, providing evidence for a genetic contribution to the condition. This overview aims firstly to systematically summarise the current literature surrounding genetics and PCOS, and secondly, to assess the methodological quality of current systematic reviews and identify limitations. Four databases were searched to identify candidate gene systematic reviews, and quality was assessed with the AMSTAR tool. Genome-wide association studies (GWAS) were identified by a semi structured literature search. Of the candidate gene systematic reviews, 17 were of high to moderate quality and four were of low quality. A total of 19 gene loci have been associated with risk of PCOS in GWAS, and 11 of these have been replicated across two different ancestries. Gene loci were located in the neuroendocrine, metabolic, and reproductive pathways. Overall, the gene loci with the most robust findings were THADA, FSHR, INS-VNTR, and DENND1A, that now require validation. This overview also identified limitations of the current literature and important methodological considerations for future genetic studies. Much work remains to identify causal variants and functional relevance of genes associated with PCOS. View Full-Text
Keywords: Polycystic Ovary Syndrome; genetics; genetic association studies; Systematic Review; Overview of Systematic Reviews Polycystic Ovary Syndrome; genetics; genetic association studies; Systematic Review; Overview of Systematic Reviews
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MDPI and ACS Style

Hiam, D.; Moreno-Asso, A.; Teede, H.J.; Laven, J.S.E.; Stepto, N.K.; Moran, L.J.; Gibson-Helm, M. The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies. J. Clin. Med. 2019, 8, 1606. https://doi.org/10.3390/jcm8101606

AMA Style

Hiam D, Moreno-Asso A, Teede HJ, Laven JSE, Stepto NK, Moran LJ, Gibson-Helm M. The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies. Journal of Clinical Medicine. 2019; 8(10):1606. https://doi.org/10.3390/jcm8101606

Chicago/Turabian Style

Hiam, Danielle, Alba Moreno-Asso, Helena J. Teede, Joop S.E. Laven, Nigel K. Stepto, Lisa J. Moran, and Melanie Gibson-Helm. 2019. "The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies" Journal of Clinical Medicine 8, no. 10: 1606. https://doi.org/10.3390/jcm8101606

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