Abstract

Specific immune mechanisms regulate the immune system to protect the host against environmental risk factors and clear abnormal immunological responses. All immune cells originate from Hematopoietic stem cells, which differentiate into several sub-types and can communicate with each other. Human leukocyte antigen (HLA) is a group of genes encoding particular proteins responsible for immune system regulation. Killer immunoglobulin receptors (KIRs) are expressed on the surface of NK cells and work with specific HLA ligands. At the same time, cytokines can influence the immune mechanism through signalling pathways among various immune cells.
Genetic studies on immunogenetic markers provide significant information for stem cell transplantation, on disease susceptibility and on infections. Stem cell transplantation is a complicated procedure that needs specific precautions pre-transplantation. Accordingly, I have characterized in detail human leukocyte antigen (HLA), Killer immunoglobulin-like receptor (KIRs), and short tandem repeats (STRs) genes among Saudi individuals to establish reference data that may help in the transplantation process and be used as a control for disease association studies. The results demonstrated some similarities and differences for alleles and haplotypes compared to other national and international populations.

I have also focused on markers for susceptibility to type 1 diabetes mellitus and investigated the possibility of linkage disequilibrium among them. Based on that, I published three studies exploring KIRs and their HLA class I ligands, HLA-DRB1 and SNPs within the pro-inflammatory cytokines/toll-like receptor genes polymorphisms and DRB1, DRA1, DQB1 and anti-inflammatory cytokines polymorphisms. Multiple associations with T1DM that are not linked to HLA genes were observed, and the stratifications of the genes that have shown significant differences demonstrated specific models of associations that I reported for the first time.

In conclusion, data on immunogenetic markers in the Saudi population have been obtained and used for a study on genetic markers for type 1 diabetes mellitus.