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Identification of the distribution of HLA alleles in the brazilian population and in neurological phenotypes possibly associated with autoimmunity

Grant number: 17/01900-6
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): August 01, 2018
Effective date (End): July 31, 2020
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Iscia Teresinha Lopes Cendes
Grantee:Tânia Kawasaki de Araújo
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas, SP, Brazil
Associated research grant:13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology, AP.CEPID

Abstract

The Human Leucocyte Antigen (HLA) genes, located at 6p21.3, are involving in susceptibility to more than 100 diseases of inflammatory, infectious and autoimmune nature. HLA genes are relevant in pharmacogenetics, as several of their alleles are associated with hypersensitivity to specific drugs, such as carbamazepine (CBZ). With a density of SNPs significantly higher than most regions, HLA is among the most polymorphic regions of the human genome and presents considerable diversity among populations. Despite the importance of identifying and relating HLA types to the clinical condition there are very few databases that are dedicated to characterize HLA alleles in various populations. This is partly due to the high costs of determining HLA types. The aim of this study is 1) to identify HLA subtypes distribution in Brazilian population (Brazilian HLA profile - 300 control subjects); 2) to detect association among HLA subtypes and hypersensitivity to CBZ (60 patients with epilepsy and hypersensitivity to carbamazepine) and 3) to identify association between HLA subtypes and autoimmune encephalitis (300 patients). The HLA typing will be perform using Trusight HLA Sequencing Panel, Illumina and the data will also be compared tho those generated by high density SNP panels. Among the projects currently conducted by CEPID-BRAINN, there is great interest in the study of cutaneous drug reaction to CBZ, since it is a medication widely used in our population, and the identification of a risk biomarker (similar to what already exists to Eastern populations) would be important. In addition, the area of autoimmune encephalitis has undergone a real revolution in recent years, since its recognition as an etiology of several severe acute and chronic neurological conditions has only been widely determined in the last 5 years. The autoimmune encephalitis are of enormous interest to BRAINN, and there are already clinical and neuroimaging works being conducted in this patients group.