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Exon 6 and 2 Peroxisome Proliferator-Activated Receptor- Polymorphisms in Polycystic Ovary Syndrome

Department of Molecular & Clinical Endocrinology and Oncology (F.O., S.S., A.C., G.L.), University "Federico II", 80131 Naples, Italy; Immunoendocrinology Group (G.M., V.S.), Institute of Endocrinology and Experimental Oncology, National Research Council, 80131 Naples, Italy; MeriGen Molecular Biology Laboratory (S.D.B., D.L.), 80131 Naples, Italy; and Chair of Obstetrics and Gynecology (S.P., F.Z.), University of Catanzaro "Magna Graecia", 88100 Catanzaro, Italy

Address all correspondence and requests for reprints to: Dr. Francesco Orio, Via Giovanni Santoro 14, 84123 Salerno, Italy. E-mail: f.orio{at}tin.it.

Obesity affects about 44% of women with polycystic ovary syndrome (PCOS). Peroxisome proliferator-activated receptor- (PPAR-) is one of the genes involved in the differentiation of adipose tissue. In an attempt to shed light on the high percentage of obesity in PCOS, we examined polymorphisms at exons 6 and 2 of the PPAR- gene in 100 PCOS patients and in 100 healthy controls matched for age and body mass index (BMI). The T allele frequency of exon 6 was significantly higher (P < 0.05) in PCOS patients compared with control women. In addition, the BMI and leptin levels were significantly higher (P < 0.05) in PCOS patients carrying the CT substitution than in controls. There was no significant difference in leptin levels after normalization for BMI. The Pro¹²Ala polymorphism at exon 2 was unrelated to BMI and/or leptin levels in PCOS women. In conclusion, the higher frequency of the CT substitution in exon 6 of the PPAR- gene in PCOS women suggests that it plays a role in the complex pathogenetic mechanism of obesity in PCOS, whereas the Pro¹²Ala polymorphism does not seem to affect BMI in PCOS women.

F.O. and S.P. contributed equally to the preparation and final version of this manuscript.

This work was supported by a grant from the "Progetto Giovani Ricercatori" of the University of Naples "Federico II" (Ministero dell’Università e della Ricerca Scientifica e Tecnologica, Nota prot. n. 400/14.3.2001).

Abbreviations: A, Androstenedione; AUC, area under curve; BMI, body mass index; CV, coefficient(s) of variation; DHEA-S, dehydroepiandrosterone sulfate; E₂, 17ß-estradiol; OGTT, oral glucose tolerance test; 17 OH-P, 17-hydroxyprogesterone; P, progesterone; PCOS, polycystic ovary syndrome; PPAR-, peroxisome proliferator-activated receptor-; PRL, prolactin; T, testosterone; TV-USG, transvaginal ultrasonography; WHR, waist-to-hip ratio.

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