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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-{gamma} gene in women with polycystic ovary syndrome

S. Korhonen1, S. Heinonen2,8, M. Hiltunen3, S. Helisalmi4, M. Hippeläinen5, R. Koivunen6, J.S. Tapanainen6 and M. Laakso7

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-{gamma} (PPAR{gamma}) in adiposity and insulin resistance a study was carried out to investigate PPAR{gamma} 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{gamma} gene using single strand conformation polymorphism (SSCP) analysis. RESULTS: A significantly different allele distribution of the Pro12 Ala polymorphism of the PPAR{gamma} 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{gamma} 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{gamma}


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