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Öğe Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-γ gene in firstdegree relatives of subjects with polycystic ovary syndrome(Taylor & Francis Ltd, 2005) Yılmaz, Murat; Ergün, Mehmet Ali; Karakoç, Ayhan; Yurtçu, Erkan; Yetkin, İlhan; Ayvaz, Göksun; Arslan, MetinAim. This study was designed to examine the relationship between the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma (PPAR-gamma) gene and insulin resistance (IR) in first-degree relatives of subjects with polycystic ovary syndrome (PCOS). Materials and methods. One hundred and twenty family members of 55 patients with PCOS and 80 unrelated healthy control subjects without a family history of diabetes or PCOS were studied. IR was assessed by homeostatic model assessment (HOMA-IR) and area under the curve (AUC) for insulin during an oral glucose tolerance test in subjects with normal glucose tolerance and controls. Genetic analysis of the PPAR-gamma gene Pro12Ala polymorphism was performed by restriction fragment length polymorphism. Results. Fasting insulin, HONIA-IR and AUC insulin were significantly higher in first-degree relatives of PCOS subjects than in controls. A significantly different allele distribution of the Pro12Ala polymorphism of PPAR-gamma was observed between the two groups, with the frequency of the variant Ala isoform being significantly reduced in the first-degree relatives of PCOS subjects (10.8%, 13 subjects) compared with the control group (22.5%, 18 subjects). All Pro12Ala polymorphisms of the PPAR-gamma gene were heterozygous. Compared with first-degree relatives of PCOS subjects with the Pro12Pro polymorphism of PPAR-gamma, first-degree relatives of PCOS subjects with the Pro12Ala polymorphism had low fasting insulin, HONIA-IR and AUC insulin levels. The combined prevalence rate for impaired glucose tolerance, impaired fasting glucose and diabetes was 40% (16 subjects) in mothers and 52% (20 subjects) in fathers of PCOS women. Conclusion. Our findings suggest that Pro12Ala PPAR-gamma gene polymorphism may be protective against IR and might prevent the development of diabetes mellitus in the first-degree relatives of subjects with PCOS.Öğe Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma gene in women with polycystic ovary syndrome(Taylor & Francis Ltd, 2006) Yilmaz, Murat; Ergün, Mehmet Ali; Karakoc, Ayhan; Yurtcu, Erkan; Cakir, Nuri; Arslan, MetinAim. The present study was designed to examine the relationship between Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma gene (PPAR-gamma) and clinical and hormonal characteristics in women with polycystic ovary syndrome (PCOS). Materials and methods. One hundred patients with PCOS and 100 healthy subjects were included in the study. Serum levels of sex steroids were measured. Insulin resistance was evaluated by homeostasis model assessment (HOMA). The responses of glucose and insulin to an oral glucose tolerance test were analyzed by calculating the respective area under the curve (AUC) by the trapezoidal method. We used the restriction fragment length polymorphism technique and polymerase chain reaction to examine Pro12Ala polymorphism in exon 2 of PPAR-gamma. Results. Pro12Ala polymorphism of PPAR-gamma was significantly elevated in control subjects (22%) compared with PCOS subjects (15%). All of the Pro12Ala polymorphisms of PPAR-gamma were heterozygous. When PCOS subjects with the Pro allele and the Ala allele of PPAR-gamma were compared, the latter had lower free testosterone, androstenedione, dehydroepiandrosterone sulfate, insulin and C-peptide levels, as well as lower luteinizing hormone/follicle-stimulating hormone ratio, HOMA insulin resistance index, AUC(insulin), Ferriman-Gallwey score, acne, body mass index and waist-to-hip ratio. Conclusion. We suggest that Pro12Ala polymorphism of the PPAR-gamma gene maybe a modifier of insulin resistance in women with PCOS.