immunogenetikat

Immunogenetikat (often rendered immunogenetics in English) is the field of medical genetics that studies the genetic basis of the immune system and how inherited variation shapes immune responses. It examines why individuals differ in susceptibility to infections, autoimmune and allergic diseases, vaccine efficacy, and the outcomes of immunotherapies. The discipline integrates immunology and genetics to understand how genes regulate the development, activation, and regulation of immune cells.

A central focus is the Major Histocompatibility Complex (MHC) genes, especially the human leukocyte antigen (HLA) system, which governs antigen presentation and T cell recognition. Other important gene families include cytokines, pattern recognition receptors such as toll-like receptors and NOD-like receptors, and genes controlling antibody production and lymphocyte signaling. Genetic variation in these regions contributes to interindividual differences in immune reactivity and disease risk.

Research methods include genotyping and sequencing, genome-wide association studies (GWAS), linkage analysis, and functional assays. Data integration with transcriptomics, proteomics, and single-cell analyses helps link variants to cellular pathways. Population genetics and studies across diverse ancestries improve understanding of how genetic background shapes immunity and disease prevalence.

Clinical applications include transplantation immunogenetics, where HLA matching reduces graft rejection, and pharmacogenetics of immunosuppressive therapy. Immunogenetic studies identify genetic risk factors for autoimmune and autoinflammatory diseases and inform strategies to optimize vaccines and immune responses. Ethical considerations cover privacy, informed consent, and the potential for genetic discrimination in health care.