Genetic polymorphisms and association of KIR-HLA system of Chinese Henan Han population and an extensive KIR gene diversity study between populations distributed worldwide

Abstract

Killer-cell immunoglobulin-like receptors are expressed on the plasma membrane of natural killer cells and a minority of T cells, which can regulate the killing function of these cells by interacting with their special ligands. The major ligands for them are the human leukocyte antigen class I molecules. Combinations of human leukocyte antigen class I molecules and Killer-cell immunoglobulin-like receptor variants contribute to the intensity of acquired immune, resistance to infections, susceptibility to autoimmune disorders, complications of pregnancy, cancers and so on. In order to reveal this appropriate functional interaction of these two markers, some previous studies have revealed the co-evolution of these two markers within and across populations in disease researches. To our knowledge, the polymorphism data of two markers of Henan Han population haven't yet been available to date. In this study, we obtained their allelic frequencies of the two markers, on this basis, we obtained 26 Killer-cell immunoglobulin-like receptor genotypes, the extensive Killer-cell immunoglobulin-like receptor gene diversity between populations distributed worldwide, and the frequencies of the estimated main human leukocyte antigen haplotypes. And we also conducted the correlation analysis to investigate population-level evidence for co-evolution of the two markers based on their frequencies and the receptor-ligand pairs. This present study could provide basic and valuable polymorphism data of the two markers and their combinations for anthropological analysis and associated disease studies. In addition, it may provide some valuable clues to the co-evolution of these two complex genetic systems based on the study of the two marker pairs.