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  • Year in Review
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PCOS in 2015

New insights into the genetics of polycystic ovary syndrome

A Corrigendum to this article was published on 29 January 2016

This article has been updated

In 2015, large-scale genetic and functional studies brought us closer to understanding the underlying aetiology of polycystic ovary syndrome (PCOS), implicating genes involved in modulation of gonadotropin and neuroendocrine action, ovarian androgen biosynthesis and possibly insulin action, providing clues to the evolutionary path and potential evolutionary advantages of PCOS.

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Change history

  • 29 January 2016

    In the original published article, the second bullet point in the Key advances should have read: "Genetic variation in epidermal growth factor receptor genes affects susceptibility to PCOS5". This error has been corrected in the HTML and PDF versions of the article.

References

  1. Zawadski, J. K. & Dunaif, A. in Polycystic Ovay Syndrome (eds Dunaif, A. et al.) 377–384 (Blackwell Scientific, 1992).

    Google Scholar 

  2. Hayes, M. G. et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat. Commun. 6, 7502 (2015).

    Article  CAS  Google Scholar 

  3. Chen, Z. J. et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat. Genet. 43, 55–59 (2011).

    Article  Google Scholar 

  4. Shi, Y. et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat. Genet. 44, 1020–1025 (2012).

    Article  CAS  Google Scholar 

  5. Day, F. R. et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464 (2015).

    Article  CAS  Google Scholar 

  6. Jones, M. R. et al. Systems genetics reveals the functional context of PCOS loci and identifies genetic and molecular mechanisms of disease heterogeneity. PLoS Genet. 11, e1005455 (2015).

    Article  Google Scholar 

  7. McAllister, J. M. et al. Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype. Proc. Natl Acad. Sci. USA 111, E1519–E1527 (2014).

    Article  CAS  Google Scholar 

  8. Goodarzi, M. O. et al. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. J. Med. Genet. 49, 90–95 (2012).

    Article  CAS  Google Scholar 

  9. Hardy, J. & Singleton, A. Genomewide association studies and human disease. N. Engl. J. Med. 360, 1759–1768 (2009).

    Article  CAS  Google Scholar 

  10. Vink, J. M., Sadrzadeh, S., Lambalk, C. B. & Boomsma, D. I. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J. Clin. Endocrinol. Metab. 91, 2100–2104 (2006).

    Article  CAS  Google Scholar 

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Correspondence to Ricardo Azziz.

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R.A. has acted as a consultant for Global PET and KinDex Pharmaceuticals.

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Azziz, R. New insights into the genetics of polycystic ovary syndrome. Nat Rev Endocrinol 12, 74–75 (2016). https://doi.org/10.1038/nrendo.2015.230

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