HLA-B*52 GENE STATUS IN A BRAZILIAN COHORT OF PATIENTS WITH TAKAYASU ARTERITIS

• Grant number: 25/04048-5
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2025
• End date: June 30, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Alexandre Wagner Silva de Souza
• Grantee: Gabriela Rye Kogima
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Takayasu arteritis (TAK) is a systemic vasculitis that affects large vessels. Inflammation of the arterial wall leads to stenosis, occlusion or aneurysm formation. TAK has an unknown cause, but genetics appears to have contributed, in part, to the pathogenesis of the disease, mainly due to the association between the disease and HLA class I alleles, especially the HLA-B*52 allele. Therefore, it is necessary to conduct a study to analyze and better understand the relationship between TAK and the presence of HLA-B*52 in our country. The hypothesis is that patients with TAK have a higher frequency of HLA-B*52 when compared to individuals in the control group. In addition, it is expected that there will be an association of specific clinical manifestations of TAK with this allele. Therefore, the overall objective is to evaluate the frequency of HLA-B*52 and its clinical associations in Brazilian patients with TAK, followed at the vasculitis outpatient clinic of the Federal University of São Paulo (UNIFESP) - Escola Paulista de Medicina, and compare it with its prevalence in healthy controls.The study will be cross-sectional and will include 61 patients in each group, one of patients with TAK and another group of healthy patients. Clinical, laboratory and imaging variables will be evaluated, including clinical manifestations of TAK. HLA-B will be genotyped by the SSO polymerase chain reaction (PCR) technique with medium resolution.