KIR2DL4 POLYMORPHISMS ASSOCIATED WITH THE ABSENCE OF THE RECEPTOR IN DIFFERENT POPULATIONS

• Grant number: 25/04343-7
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2025
• End date: June 30, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Erick da Cruz Castelli
• Grantee: Luiza da Cruz Chiarinelli
• Host Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

The KIR2DL4 receptor, primarily expressed in Natural Killer (NK) cells, can transmit activating and inhibitory signals to the NK cell, depending on the ligand interacting with it. The KIR2DL4 gene exhibits copy number polymorphism as well as allelic diversity. This diversity, whether in sequence or the number of gene copies present in an individual, may influence the function of KIR2DL4 receptors. The main objective of this study is to investigate the mechanisms leading to the absence of functional KIR2DL4, either due to complete gene deletion or polymorphisms resulting in truncated or soluble proteins. The research aims to analyze how these variations influence the genetic diversity of KIR2DL4 and its distribution among different human populations. Additionally, the investigation of copy number variation will contribute to understanding the evolution of the gene and its organization. Characterizing these patterns may provide important insights into the modulation of immune responses, particularly regarding immune tolerance and susceptibility to autoimmune diseases. This study will help clarify the impacts of these genetic variations and their population diversity.