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Analysis of polymorphisms of RGS12, GRPEL1 and WFS1 genes in patients with multinodular non-toxic goiter

Grant number: 15/14830-0
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): October 01, 2016
Effective date (End): September 30, 2017
Field of knowledge:Health Sciences - Medicine - Surgery
Principal Investigator:Suemi Marui
Grantee:João Diego Carmona Navarrete Júnior
Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil


The term Goiter is commonly used to describe the clinical changes resulting from the increased thyroid volume. Goiter may occur endemically, due to iodine deficiency, or sporadically, in places that are already iodine sufficient. The Non-Toxic Multinodular Goiter (NTMG) is defined with an increased thyroid volume and TSH and thyroid hormone levels are within normal range. The disease evolves with progressive increase in thyroid volume and in nodularity. However, iodine deficiency cannot be considered the only etiological agent. Factors such age, gender, body mass index, smoking and specific goitrogens agents (anti-arrhythmic drugs, antiretrovirals drugs, immunosuppressants and lithium) also have their influence proven. In the other hand, genetic susceptibility factors present important roles in etiopathogeny of NTMG. In 2013, Yan et al. identified new genetic variants correlated to multinodular goiter in the RGS12, GRPEL1 and WFS1 genes. All are expressed in the thyroid tissue and well preserved among mammals. This research aims to investigate the frequency of these new genes variants in our cohort, and correlate then with the clinical and laboratorial findings of patients with goiter. Patients will be selected according to the diagnostic of NTMG, which will occur through physical examination and confirmed by cervical ultrasonography. The clinical and laboratory parameters of each patient (gender, age, ethnicity, body mass index, smoking, family history of goiter, TSH levels, thyroid hormone levels, and medications in use) will also be analyzed. The genetic variants will be determined by Real-Time PCR and the results will be analyzed through allelic discrimination plot. Therefore, we intend to analyze the participation of these new variants in genetic susceptibility for NTMG and their influence on clinical and laboratorial profile of affected individuals.

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