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Study of polymorphisms of TSH receptor, NRXN3 and ARID5B genes in patients with graves disease

Grant number: 14/04956-4
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): September 01, 2014
Effective date (End): February 28, 2015
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Suemi Marui
Grantee:Liege Tambelini Gomes
Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Graves' disease (GD) is a classic example of hyperthyroidism caused by autoimmune thyroid disease (AITD). It is multifactorial, with genetic predisposition, followed by environmental factors that trigger humoral and cellular immune responses against the thyroid tissue itself. The development of antibody to the TSH receptor (TRAb) stimulates thyroid follicular cells, both in the production of thyroid hormones, as the gland hyperplasia. Recently, through genetic mapping, the association of polymorphisms in AITD with ARID5B , NRXN3 and TSHR genes were identified. While the first was related both to the GD, as to Hashimoto thyroiditis, the other two were associated only to the GD. The TSHR is certainly involved in GD. ARID5B and NRXN3 seem to participate in the modulation of immune response and inflammatory state, but their roles in GD were not yet determined. This study aims to determine the frequencies of these polymorphisms in patients with GD and establish an association with clinical and laboratory data. Thus, we proceed to study the genetic susceptibility of GD in a specific population of the Endocrinology Service of HC- FMUSP.

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