Human Reproduction, Vol. 18, No. 3, 540-543,
March 2003
© 2003 European Society of Human Reproduction and Embryology
Polymorphism in the peroxisome proliferator-activated receptor-
gene in women with polycystic ovary syndrome
1 Department of Obstetrics and Gynaecology, Central Hospital of Mikkeli, 50100 Mikkeli, Departments of 2 Obstetrics and Gynaecology and 3 Neuroscience, University of Kuopio, 70211 Kuopio, Departments of 4 Neurology and 5 Obstetrics and Gynaecology, Kuopio University Hospital, 70211 Kuopio, 6 Department of Obstetrics and Gynaecology, Oulu University Hospital, PO Box 5000, 90014 Oulu and 7 Department of Medicine, Kuopio University Hospital, 70211 Kuopio, Finland
8 To whom correspondence should be addressed. e-mail: seppo.heinonen{at}kuh.fi
BACKGROUND: In view of the strong evidence implicating peroxisome proliferator-activated receptor-
(PPAR) in adiposity and insulin resistance a study was carried out to investigate PPAR genotype frequencies in women with polycystic ovary syndrome (PCOS) and to elucidate its role in the pathogenesis of the syndrome. METHODS: The study involved 135 women with PCOS and 115 healthy control women who were genotyped for a known functional variant of the PPAR gene using single strand conformation polymorphism (SSCP) analysis. RESULTS: A significantly different allele distribution of the Pro12 Ala polymorphism of the PPAR gene was observed between the two groups, with the frequency of the variant Ala isoform being significantly reduced in the PCOS group (12.6%) when compared with the control group (19.1%) (P = 0.045), at an odds ratio of 0.609 (95% confidence interval: 0.374–0.991). The genotype distributions of the Pro12 Ala polymorphism in the PCOS and control groups were different with borderline significance (P = 0.051). CONCLUSIONS: Our data support a role for PPAR gene polymorphism in the pathogenesis of PCOS, the presence of the Ala isoform being protective against the development of PCOS.
Key words: PCOS/polymorphism/PPAR
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