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
• Start date: September 01, 2014
• End date: 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

Abstract

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.