Role of Human Leukocyte Antigens (HLA) in Autoimmune Diseases

Abstract

Since the discovery of HLA 60 years ago, it has contributed to the understanding of the immune system as well as of the pathogenesis of several diseases. Aside from its essential role in determining donor-recipient immune compatibility in organ transplantation, HLA genotyping is meanwhile performed routinely as part of the diagnostic work-up of certain autoimmune diseases. Considering the ability of HLA to influence thymic selection as well as peripheral anergy of T cells, its role in the pathogenesis of autoimmunity is understandable. The aim of this paper is to provide a brief overview of the role and current clinical relevance of HLA-B27 in spondyloarthritis and HLA-B51 in Behçet's disease as well as HLA-DQ2/DQ8 in celiac disease and HLA-DRB1 in rheumatoid arthritis and to discuss possible future implications.

Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset

“…Several SNPs in HLA class II region were found to be associated with ME/CFS (43,44). This association is another evidence for an autoimmune pathomechanism, as the link between certain HLA alleles and autoimmunity is well-established (45). Moreover, there are studies showing an association with several SNPs in the glucocorticoid receptor gene Nuclear Receptor Subfamily 3 Group C Member 1 (NR3C1).…”

Autoimmune thyroid disease and type 1 diabetes mellitus: same pathogenesis; new perspective?

“…HLA complexes play key roles in the control of immune responses to exogenous and self-antigens. 37 , 38 HLA genes are strongly linked with thyroid autoimmunity in patients with T1DM, demonstrating that some genetic determinants within the HLA region are involved in both T1DM and AITD. 35 , 36 , 39 , 40 The HLA DRB1*0405/DQA1*0301/DQB1*0401 haplotype confers susceptibility in patients with T1DM and GADAb-positive AITD, whereas individuals with the HLA DRB1*0803/DQB1*0601 haplotype are more susceptible to AITD but not to anti-islet autoimmunity.…”

Immune System Sex Differences May Bridge the Gap Between Sex and Gender in Fibromyalgia

“…Thirdly, there is a genetic predisposition for most autoimmune diseases, especially in the HLA genes, probably as a consequence of affinity issues between the HLA molecule and the presented antigen (Bodis et al, 2018). HLA-DR2, DR3, DR4, DQ6, and DQ8 are associated with SLE, sicca syndrome, and rheumatoid arthritis (Mangalam et al, 2013).…”