The Major Histocompatibility Complex (MHC) Class II DR Beta 1, also known as HLA-DRB1, is a protein-coding gene that plays a crucial role in the immune system. This gene is part of the MHC class II beta chain paralogs and is involved in presenting peptides derived from extracellular proteins to the immune system .
The HLA-DRB1 gene encodes the beta chain of the MHC class II molecule, which is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB). The beta chain is approximately 26-28 kDa and is encoded by six exons. These exons encode different parts of the protein:
The beta chain contains all the polymorphisms that specify the peptide-binding specificities, making it essential for the immune response .
HLA-DRB1 plays a central role in the immune system by presenting peptides derived from extracellular proteins. These peptides are displayed on the surface of antigen-presenting cells (APCs) for recognition by CD4-positive T cells. This interaction is crucial for initiating the immune response against pathogens .
Hundreds of DRB1 alleles have been described, and some alleles are associated with increased susceptibility to certain diseases. For example:
The polymorphisms in the HLA-DRB1 gene have significant clinical implications. For instance, mismatching of HLA-DRB1 alleles between donor and recipient is associated with an increased risk of acute graft-versus-host disease (GVHD) after unrelated marrow transplantation . Additionally, certain HLA-DRB1 alleles are linked to autoimmune diseases such as multiple sclerosis and sarcoidosis .