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多囊卵巢综合征女性中Pro12Ala多态性与代谢参数的关联

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

作者信息

Zaki Moushira, Hassan Naglaa, El-Bassyouni Hala T, Kamal Sanaa, Basha Walaa, Azmy Osama, Amr Khalda

机构信息

Biological Anthropology Department, National Research Centre, Cairo, Egypt.

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

出版信息

Open Access Maced J Med Sci. 2017 Jun 13;5(3):275-280. doi: 10.3889/oamjms.2017.088. eCollection 2017 Jun 15.

Abstract

AIM

To investigate the association of peroxisome proliferator-activated receptor gamma () 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 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 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 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.

摘要

目的

探讨过氧化物酶体增殖物激活受体γ(PPARγ)Pro12Ala多态性与多囊卵巢综合征(PCOS)的相关性及其对PCOS女性代谢参数的影响。

方法

本研究采用聚合酶链反应(PCR)鉴定100例PCOS女性和120例年龄匹配的健康女性中PPARγ Pro12Ala多态性的存在情况。所有参与者均接受人体测量、生化和代谢评估。

结果

PCOS女性和对照组之间PPARγ Pro12Ala多态性的基因型分布存在显著差异(p = 0.03)。PCOS患者中多态性等位基因Ala的频率显著高于对照组(比值比[OR]=2.01,p = 0.01)。PCOS女性中变异等位基因Ala的携带者在体重指数(BMI)、收缩压和舒张压、腰围、腰臀比、皮褶厚度总和、空腹血糖(FBG)、空腹血胰岛素、稳态模型评估胰岛素抵抗(HOMA-IR)、空腹甘油三酯、总胆固醇和低密度脂蛋白方面的值显著高于非携带者。

结论

PPARγ Pro12Ala多态性可能与PCOS风险及代谢参数异常有关,可作为代谢并发症早期诊断和临床预测的生物标志物。

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Potential genetic polymorphisms predicting polycystic ovary syndrome.预测多囊卵巢综合征的潜在基因多态性。
Endocr Connect. 2018 May;7(5):R187-R195. doi: 10.1530/EC-18-0121. Epub 2018 Apr 5.

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