Koika Vasiliki, Marioli Dimitra J, Saltamavros Alexandros D, Vervita Vasiliki, Koufogiannis Kleanthis D, Adonakis George, Decavalas George, Georgopoulos Neoklis A
Division of Reproductive Endocrinology and Department of Obstetrics and Gynecology, University of Patras Medical School, University Hospital, 26500 Patras, Greece.
Eur J Endocrinol. 2009 Aug;161(2):317-22. doi: 10.1530/EJE-08-1014. Epub 2009 May 22.
The peroxisome proliferator-activated receptor (PPAR)gamma is a transcription factor involved in glucose homeostasis and energy metabolism. A missense mutation at codon 12 in the PPARgamma2 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 PPARgamma2 gene and its associations with indices of IR and BMR in lean and slightly overweight PCOS women.
Case-control association study involving 156 PCOS women with biochemical hyperandrogenism, chronic anovulation and polycystic ovarian morphology in ultrasound and 56 unrelated healthy controls.
Hormonal 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.
Genotype frequencies of the Pro12Ala polymorphism in PPARgamma2 did not differ among PCOS women and control subjects. The presence of Pro12Ala polymorphism of PPARgamma2 was associated with lower BMR (P=0.04). This finding was valid in our subgroup of lean PCOS (BMI<25 kg/m(2)), in which the Ala variant was also associated with higher total testosterone values.
The Pro12Ala polymorphism in the PPARgamma2 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.
过氧化物酶体增殖物激活受体（PPAR）γ是一种参与葡萄糖稳态和能量代谢的转录因子。PPARγ2基因第12密码子的错义突变与多囊卵巢综合征（PCOS）患者体重指数（BMI）增加及胰岛素抵抗（IR）减弱有关。我们最近发现PCOS患者基础代谢率（BMR）降低。本研究旨在确定PPARγ2基因Pro12Ala多态性在体型偏瘦和轻度超重的PCOS女性中的发生率及其与IR和BMR指标的相关性。
病例对照关联研究，纳入156例有生化高雄激素血症、慢性无排卵且超声显示多囊卵巢形态的PCOS女性以及56例无亲缘关系的健康对照者。
采用电化学发光定量法或放射免疫分析法进行激素测定。通过间接测热法测量BMR。所有受试者均采用聚合酶链反应-限制性片段长度多态性分析进行基因分型。
PPARγ2基因Pro12Ala多态性的基因型频率在PCOS女性和对照者之间无差异。PPARγ2基因Pro12Ala多态性的存在与较低的BMR相关（P = 0.04）。这一发现在我们体型偏瘦的PCOS亚组（BMI < 25 kg/m²）中成立，在该亚组中，Ala变异型还与较高的总睾酮值相关。
PPARγ2基因Pro12Ala多态性与PCOS合并生化高雄激素血症女性的BMR降低有关。因此，这些年轻女性有体重增加的风险，应通过饮食限制能量摄入，并通过运动增加能量消耗。
