[Role of HLA genetic variants in autoimmune diseases]

Autoimmune diseases are a group of disorders caused by dysregulated immune function, in which the immune system mistakenly attacks the host's own healthy cells, tissues, and organs. Genetic factors are one of the important foundations for the development of autoimmune diseases. Human leukocyte antigen (HLA) is closely related to immune function in the human body, and HLA-encoding genes are highly polymorphic, making them important susceptibility factors for autoimmune diseases. HLA genetic variants are closely associated with a variety of autoimmune diseases, and they mediate the occurrence and development of these diseases through multiple mechanisms, such as molecular mimicry and self-antigen presentation. They have also been importantly applied in clinical disease prevention, diagnosis, and treatment. An in-depth understanding of the relationship between HLA genetic variants and autoimmune diseases is of great significance for discovering biomarkers related to disease prevention, diagnosis, treatment, and prognosis, elucidating disease pathogenesis, and developing new therapeutic strategies. However, substantial challenges remain in the basic research and clinical translation of autoimmune disease-associated HLA variants. Multi-omics technologies have important application prospects and significance in the field of HLA-related autoimmune diseases and may provide new directions for mechanistic research and clinical application of HLA genetic variants in autoimmune diseases.