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Hum. Reprod. Advance Access originally published online on August 26, 2006
Human Reproduction 2006 21(11):2766-2775; doi:10.1093/humrep/del222
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Genomic and post-genomic approaches to polycystic ovary syndrome—progress so far: Mini Review

Catherine Hughes1, Mustafa Elgasim1, Robert Layfield2,3 and William Atiomo1

1 Department of Obstetrics and Gynaecology, School of Human Development and 2 School of Biomedical Sciences, University of Nottingham, Nottingham, UK

3 To whom correspondence should be addressed at: School of Biomedical Sciences, University of Nottingham Medical School, Queen’s Medical Centre, Nottingham NG7 2UH, UK. E-mail: robert.layfield{at}nottingham.ac.uk

Genomic studies in polycystic ovary syndrome (PCOS) have focused on ovarian tissues and gene expression changes related to the gynaecological manifestations of PCOS. These studies have revealed a variety of altered genes that fall into many functional categories. Of these, the genes involved in steroidogenesis, including genes related to retinoic acid biosynthesis and LH-stimulated gene pathways, are generally up-regulated in PCOS samples. Genes involved in the Wnt signalling pathway appear down-regulated. Immune response genes and those involved in apoptosis are altered, but the net effect of these alterations is unclear at present. However, these altered gene expression patterns are yet to produce a defined aetiological basis or diagnostic biomarker for PCOS. The use of proteomic technologies for the study of the PCOS proteome is in its infancy; however, a few pilot studies have been published and the data are reviewed. Proteomics looks directly at the functional units within a cell, the proteins. This approach should thus serve to validate some of the gene expression changes identified and then build on the genomic results collected to date.

Key words: genomics/metabonomics/ovary/polycystic/proteomics


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