KIR3DL3 variability and haplotypes in a brazilian population sample from the State of São Paulo

Abstract

The Leukocyte Receptor Complex (LRC), located at 19q13.4, is composed of genes encoding molecules of the immunoglobulin superfamily (Ig). Among these genes, the family of Killer-cell immunoglobulin-like receptors (KIR), expressed in Natural Killer cells (NK) and expressed in both myeloid and lymphoid cells, stand out. The major ligands of these receptors are HLA class I molecules, components of the Major Histocompatibility Complex (MHC), encoded by the most polymorphic genes in the human genome. Together, these receptor-ligand complexes are responsible for controlling and modulating immune responses. The KIR3DL3 gene variability is poorly explored, although some of these genes have demonstrated to be quite polymorphic in previous studies that evaluated only a few exons of this gene. There are no studies describing KIR3DL3 variability in Brazil, which has a highly admixed population and has been a great repository of genetic variability in previous studies that characterize MHC class I genes. The aim of this study is to develop a strategy of evaluation of the KIR3DL3 gene using new generation sequencing and to explore the genetic and haplotypic variability of these genes in a Brazilian sample, correlating the data found with the existing variability in HLA complex genes previously evaluated in these same samples. (AU)