File(s) stored somewhere else

Please note: Linked content is NOT stored on Open Access Te Herenga Waka-Victoria University of Wellington and we can't guarantee its availability, quality, security or accept any liability.

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

journal contribution
posted on 22.03.2022, 22:47 authored by D Hiam, A Moreno-Asso, HJ Teede, JSE Laven, NK Stepto, LJ Moran, Melanie Gibson-HelmMelanie Gibson-Helm
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.

History

Preferred citation

Hiam, D., Moreno-Asso, A., Teede, H. J., Laven, J. S. E., Stepto, N. K., Moran, L. J. & 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, 8(10), 1606-1606. https://doi.org/10.3390/jcm8101606

Journal title

Journal of Clinical Medicine

Volume

8

Issue

10

Publication date

01/10/2019

Pagination

1606-1606

Publisher

MDPI AG

Publication status

Published

Online publication date

03/10/2019

ISSN

2077-0383

eISSN

2077-0383

Language

en