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The genetics of polycystic ovary syndrome: an overview of candidate gene systematic reviews and genome-wide association studies

Hiam, Danielle, Moreno-Asso, A, Teede, H J, Laven, J S E, Stepto, N K, Moran, L J and Gibson-Helm, M 2019, The genetics of polycystic ovary syndrome: an overview of candidate gene systematic reviews and genome-wide association studies, Journal of clinical medicine, vol. 8, no. 10, Special Issue: Polycystic Ovary Syndrome: Phenotype and Treatment, pp. 1-17, doi: 10.3390/jcm8101606.

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Title The genetics of polycystic ovary syndrome: an overview of candidate gene systematic reviews and genome-wide association studies
Author(s) Hiam, Danielle
Moreno-Asso, A
Teede, H J
Laven, J S E
Stepto, N K
Moran, L J
Gibson-Helm, M
Journal name Journal of clinical medicine
Volume number 8
Issue number 10
Season Special Issue: Polycystic Ovary Syndrome: Phenotype and Treatment
Article ID 1606
Start page 1
End page 17
Total pages 17
Publisher MDPI
Place of publication Basel, Switzerland
Publication date 2019-10
ISSN 2077-0383
2077-0383
Keyword(s) DIAGNOSTIC-CRITERIA
General & Internal Medicine
genetic association studies
genetics
INSULIN-RESISTANCE
Life Sciences & Biomedicine
Medicine, General & Internal
METAANALYSIS
METABOLIC SYNDROME
Overview of Systematic Reviews
PATHOPHYSIOLOGY
PCOS
Polycystic Ovary Syndrome
POLYMORPHISMS
RECEPTOR GENE
Science & Technology
SUSCEPTIBILITY LOCI
SYNDROME RISK
Systematic Review
Summary 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.
Language eng
DOI 10.3390/jcm8101606
Indigenous content off
Field of Research 1103 Clinical Sciences
HERDC Research category C1 Refereed article in a scholarly journal
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30151504

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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.