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Title: The genetic basis of polycystic ovary syndrome
Author: Sahota, Sukhwinder K.
Awarding Body: University of Aberdeen
Current Institution: University of Aberdeen
Date of Award: 2000
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Polycystic ovary syndrome (PCOS) affects up to 10% of women of a reproductive age and is a major cause of infertility. It is characterised by polycystic ovaries, hyperandrogenism and chronic anovulation. The disorder is genetically inherited and possibly of polygenic nature. Two methods were employed in the investigation of the genetic basis of PCOS: DD RT-PCR and mutation screening for association based studies. Application of DD RT-PCR on ovarian granulosa cells cells from affected and control women identified twenty-three differentially expressed sequences (B1-23). Of these, B4 was confirmed to be differentially expressed in A PCOS patient by competitive RT-PCR. Similarity searching identified the B4 sequence as the PHEX gene (99% homology). The corresponding PHEX protein is postulated to act as an endopeptidase in phosphate regulation. Its role in the ovary of PCOS patients remains to be elucidated. An association based study indicated reduced risk of PCOS associated with the AA genotype (OR=0.04; P<0.05) of the FSHR G2039A polymorphism in antenatal controls. No difference was seen between PCOS and blood donor control individuals. The 2039A allele confers a novel glycosylation site in the peptide sequence and this may effect processing of the FSHR protein in the endoplasmic reticulum. In addition, a reduced risk of PCOS was associated with the -1944CC genotype (OD=0.3) of the -1994 novel polymorphic site in CYP11a in blood donor controls. These findings suggest that a number of genetic factors may be involved in pathogenesis of PCOS. Their identification will open the potential for direct treatment of the symptoms associated with the disorder, especially infertility, and prophylactic management of those patients most at risk from cardiac disease or NIDDM.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available