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Type: Journal article
Title: The genetics of Polycystic Ovary Syndrome: an overview of candidate gene systematic reviews and genome-wide association studies
Author: Hiam, D.
Moreno-Asso, A.
Teede, H.J.
Laven, J.S.E.
Stepto, N.K.
Moran, L.J.
Gibson-Helm, M.
Citation: Journal of Clinical Medicine, 2019; 8(10):1606-1-1606-17
Publisher: MDPI
Issue Date: 2019
ISSN: 2077-0383
Statement of
Danielle Hiam, Alba Moreno-Asso, Helena J. Teede, Joop S.E. Laven, Nigel K. Stepto, Lisa J. Moran, and Melanie Gibson-Helm
Abstract: 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.
Keywords: Polycystic Ovary Syndrome; genetics; genetic association studies; Systematic Review; Overview of Systematic Reviews
Rights: © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (
RMID: 1000003195
DOI: 10.3390/jcm8101606
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Appears in Collections:Medicine publications

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