title: Exon 6 and 2 peroxisome proliferator-activated receptor-gamma polymorphisms in polycystic ovary syndrome.
abstract: Obesity affects about 44% of women with polycystic ovary syndrome (PCOS). Peroxisome proliferator-activated receptor-gamma (PPAR-gamma) 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-gamma 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 C-->T substitution than in controls. There was no significant difference in leptin levels after normalization for BMI. The Pro(12)Ala polymorphism at exon 2 was unrelated to BMI and/or leptin levels in PCOS women. In conclusion, the higher frequency of the C-->T substitution in exon 6 of the PPAR-gamma gene in PCOS women suggests that it plays a role in the complex pathogenetic mechanism of obesity in PCOS, whereas the Pro(12)Ala polymorphism does not seem to affect BMI in PCOS women.
authors.affiliation: Department of Molecular & Clinical Endocrinology and Oncology, University "Federico II", 80131 Naples, Italy. f.orio@tin.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Orio
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Matarese
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Di Biase
authors.forename: Stefano
authors.initials: S
authors.lastname: Palomba
authors.forename: Donato
authors.initials: D
authors.lastname: Labella
authors.forename: Veronica
authors.initials: V
authors.lastname: Sanna
authors.forename: Silvia
authors.initials: S
authors.lastname: Savastano
authors.forename: Fulvio
authors.initials: F
authors.lastname: Zullo
authors.forename: Annamaria
authors.initials: A
authors.lastname: Colao
authors.forename: Gaetano
authors.initials: G
authors.lastname: Lombardi
mesh_terms: D000328:Adult; D000483:Alleles; D015992:Body Mass Index; D016022:Case-Control Studies; D003596:Cytosine; D005091:Exons / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D020738:Leptin / Q000097:blood; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D013941:Thymine; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D020738:Leptin; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D003596:Cytosine; D013941:Thymine