Relevance to Autism

Association analysis of human leukocyte antigen (HLA) genes in a large dataset of 65,534 genotyped individuals consisting of controls and cases having one or more of autism spectrum disorder, ADHD, schizophrenia, bipolar disorder, depression, anorexia, or intellectual disability demonstrated a pronounced protective effect of the HLA-DPB1*1501 allele on susceptibility to autism (p = 0.0094, odds ratio = 0.72) and intellectual disability (p = 0.00099, odds ratio = 0.41), with an increased protective effect on a comorbid diagnosis of both disorders (p = 0.003, odds ratio = 0.29) (Nudel et al., 2019).

Molecular Function

HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules.

External Links

References