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

2003 ◽  
Vol 88 (12) ◽  
pp. 5887-5892 ◽  
Author(s):  
Francesco Orio ◽  
Giuseppe Matarese ◽  
Sebastiano Di Biase ◽  
Stefano Palomba ◽  
Donato Labella ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Peroxisome Proliferator ◽  
Pro12ala Polymorphism ◽  
Ovary Syndrome ◽  
Peroxisome Proliferator Activated Receptor ◽  
Exon 2 ◽  
Ppar Γ ◽  
Significant Difference ◽  
Shed Light

Abstract Obesity affects about 44% of women with polycystic ovary syndrome (PCOS). Peroxisome proliferator-activated receptor-γ (PPAR-γ) 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-γ 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 Pro12Ala 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-γ 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.

scholarly journals Association of the Pro12Ala Polymorphism with the Metabolic Parameters in Women with Polycystic Ovary Syndrome

2017 ◽  
Vol 5 (3) ◽  
pp. 275-280 ◽  
Author(s):  
Moushira Zaki ◽  
Naglaa Hassan ◽  
Hala T. El-Bassyouni ◽  
Sanaa Kamal ◽  
Walaa Basha ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Fasting Blood Glucose ◽  
Metabolic Parameters ◽  
Peroxisome Proliferator ◽  
Pro12ala Polymorphism ◽  
Ovary Syndrome ◽  
Metabolic Complications ◽  
Peroxisome Proliferator Activated Receptor ◽  
Significant Difference

AIM: To investigate the association of peroxisome proliferator-activated receptor gamma (PPARG) Pro12Ala polymorphism with polycystic ovary syndrome (PCOS) and its effect on the metabolic parameters in PCOS women.METHODS: The study used PCR to identify the presence of the PPARG Pro12Ala polymorphism in 100 PCOS women and 120 age-matched healthy women. All participants were subjected to anthropometry, biochemical and metabolic evaluation.RESULTS: Significant difference in the genotypes distributions of PPARG Pro12Ala polymorphism was observed among PCOS women and controls (p = 0.03). The frequency of the polymorphic allele Ala was significantly higher in PCOS cases than that in the controls (OR = 2.01, p = 0.01). The carries of the variant allele Ala in PCOS women showed significant higher values in body mass index (BMI), systolic and diastolic blood pressure, waist circumference, waist to hip ratio, sum of skin folds, fasting blood glucose, fasting blood insulin, HOMA-IR, fasting triglycerides, total cholesterol and low-density lipoprotein than non-carriers.CONCLUSION: The PPARG Pro12Ala polymorphism might contribute to the risk of PCOS and abnormal metabolic parameters and could be considered as a biomarker for early diagnosis and clinic prediction of metabolic complications.

scholarly journals Association of the Pro12Ala polymorphism in peroxisome proliferator-activated receptor γ2 with decreased basic metabolic rate in women with polycystic ovary syndrome

2009 ◽  
Vol 161 (2) ◽  
pp. 317-322 ◽  
Author(s):  
Vasiliki Koika ◽  
Dimitra J Marioli ◽  
Alexandros D Saltamavros ◽  
Vasiliki Vervita ◽  
Kleanthis D Koufogiannis ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Metabolic Rate ◽  
Polycystic Ovary ◽  
Total Testosterone ◽  
Peroxisome Proliferator ◽  
Pro12ala Polymorphism ◽  
Ovary Syndrome ◽  
Peroxisome Proliferator Activated Receptor ◽  
Ppar Γ ◽  
Genotype Frequencies

ObjectiveThe peroxisome proliferator-activated receptor (PPAR)γ is a transcription factor involved in glucose homeostasis and energy metabolism. A missense mutation at codon 12 in the PPARγ2 has been associated with increased body mass index (BMI) and attenuated insulin resistance (IR) in polycystic ovary syndrome (PCOS). We have recently shown a decreased basic metabolic rate (BMR) in PCOS. The aim of the present study is to determine the prevalence of the Pro12Ala polymorphism of the PPARγ2 gene and its associations with indices of IR and BMR in lean and slightly overweight PCOS women.DesignCase–control association study involving 156 PCOS women with biochemical hyperandrogenism, chronic anovulation and polycystic ovarian morphology in ultrasound and 56 unrelated healthy controls.MethodsHormonal determinations were performed by electrochemiluminescence quantitation or RIA. BMR was measured by indirect calorimetry. All subjects were genotyped by a PCR–restriction fragment length polymorphism assay.ResultsGenotype frequencies of the Pro12Ala polymorphism in PPARγ2 did not differ among PCOS women and control subjects.The presence of Pro12Ala polymorphism of PPARγ2 was associated with lower BMR (P=0.04). This finding was valid in our subgroup of lean PCOS (BMI<25 kg/m2), in which the Ala variant was also associated with higher total testosterone values.ConclusionThe Pro12Ala polymorphism in the PPARγ2 gene is associated with decreased BMR in women with PCOS and biochemical hyperandrogenemia. These young women are therefore at risk to increase their body weight and should restrict their energy intake by diet and enhance their energy expenditure by exercise.

Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-γ gene in women with polycystic ovary syndrome

2006 ◽  
Vol 22 (6) ◽  
pp. 336-342 ◽  
Author(s):  
Murat Yilmaz ◽  
Mehmet Ali Ergün ◽  
Ayhan Karakoç ◽  
Erkan Yurtçu ◽  
Nuri Çakir ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Peroxisome Proliferator ◽  
Pro12ala Polymorphism ◽  
Ovary Syndrome ◽  
Peroxisome Proliferator Activated Receptor

scholarly journals Association of Metformin Pharmacogenetic with a Single Amino Acid Alteration in Peroxisome Proliferator-Activated Receptor Gamma (PPARγ) Genein Patients with Polycystic Ovary Syndrome

2019 ◽  
Author(s):  
Fatemeh Jafari ◽  
Seyed Mohsen Miresmaeili ◽  
Seyed Mehdi Kalantar
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Plasma Levels ◽  
Polycystic Ovary ◽  
Single Amino Acid ◽  
P Value ◽  
Peroxisome Proliferator ◽  
Ovary Syndrome ◽  
Peroxisome Proliferator Activated Receptor ◽  
Significant Difference ◽  
Before And After

Introduction: Polycystic ovarian syndrome (PCOS) is known as a metabolic, reproductive and ovarian degeneration disorder. Pro12 Ala mutation in peroxisome proliferator-activated receptor gamma (PPARγ) gene as a transcription factor is linked to disorder of glucose and infertility. In the patients with type 2 diabetes and polycystic ovary syndrome, metformin is the recommended first-line treatment. The aim of this study was evaluation of pharmacokinetics of metformin and the patients genotype for Pro12 Ala polymorphism. Methods: In this study, 100 women with PCOS and 100 healthy women were evaluated. Plasma levels of the FSH and LH were evaluated before and after metformin consumption in the patients.The Pro12 Ala polymorphism was detected by PCR-RFLP analysis. Results: Two patients carried GG homozygous recessive. There was no significant difference in genotypes between the healthy and patient women. There was a significant difference in plasma levels of LH, FSH and testosterone before and after treatment with metformin but there was no relationship between genotype and response to metformin (p-value = 0.59). Conclusion: Considering to this research, there is no relationship between Pro12 Ala polymorphism and metformin response in the patients, but the response to metformin for the regulation and improvement ovulation hormones in many patients is satisfactory.

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