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Evaluation of multiple Genetic Polymorphisms in women with Polycystic Ovary Syndrome

Grant number: 15/26152-7
Support Opportunities:Regular Research Grants
Duration: May 01, 2016 - October 31, 2018
Field of knowledge:Health Sciences - Medicine - Maternal and Child Health
Principal Investigator:Rui Alberto Ferriani
Grantee:Rui Alberto Ferriani
Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
Associated researchers: Anderson Sanches de Melo ; Carolina Sales Vieira ; Rosana Maria dos Reis ; Valeria Aguiar Gomes


Introduction: In an attempt to minimize the heterogeneity of the study on genetic polymorphism in polycystic ovary syndrome (PCOS), Chinese authors conducted the first study of the human genome in these women and demonstrated greater frequency of genetic polymorphism associated with LHCGR genes, THADA, DENND1A, FSHr , YAP1, RAB5B / SUOX and SUMO1P1. Despite the ethnic and geographic heterogeneity of PCOS, these findings have also been demonstrated in the US population and European countries. In Brazil, this data has not been reviewed. Knowing possible genetic variants related to this disorder, it can establish health care policies to patients with PCOS in order to minimize public spending and effective therapeutic target through effective measures for primary and secondary prevention.Objectives: To assess the association of genetic polymorphisms [LHCGR (rs13405728) THADA (rs12468394, rs12478601), DENND1A (rs10818854, rs 10986105) FSHr (rs2349415, 2268361) YAP1 (rs1894116), RAB5B / SUOX (rs705702), c9orf3 (rs4385527 , rs3802457) and SUMO1P1 (rs6022786)] with the presence of PCOS in Brazilian women compared to ovulatory women without this disorder. Secondly, to evaluate the relationship of these polymorphisms with the presence of inflammatory and metabolic markers of adipose dysfunction, metabolic syndrome (MetS), obesity, insulin resistance (IR) and defining characteristics of PCOS (chronic anovulation, clinical and / or laboratory hyperandrogenism and sonographic morphology of polycystic ovaries).Patients and Methods: observational, case-control that will evaluate 392 women divided into two groups: 1) SOP (cases): composed of 196 women with PCOS and 2) Control group: represented by 196 ovulatory women without PCOS. All patients will be submitted to clinical evaluation (age, body mass index, race, characteristics of the menstrual cycle, systolic and diastolic blood pressure, waist circumference, hirsutism and acanthosis nigricans), laboratory (stimulant follicular hormone, stimulant tireo hormone, total testosterone, deydroepiandrostenedione sulphate, 17 OH progesterone, fasting blood glucose, fasting insulin, homeostasis model assessment-insulin resistance index, lipid profile, Mets, total adiponectin, leptin, molecular high weight adiponectin, tumoral necrosis factor alpha) and analysis by polymerase chain reaction (PCR) of single nucleotide polymorphisms described in objectives. (AU)

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