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Case-control study in Han Chinese from the southwest of the country suggests that risk of ALS (show IGFALS Proteins) is increased by the AA genotype at rs9268856 in the HLA-DRA (show HLA-DRA Proteins)/HLA-DRB5 gene, but not by the SNPs rs9268877 in HLA-DRA (show HLA-DRA Proteins)/HLA-DRB5, rs1980493 in BTNL2 (show BTNL2 Proteins) or rs302668 in RAB38 (show RAB38 Proteins)/CTSC (show CTSC Proteins)
This study identified genetic overlap between Alzheimer disease and immune-mediated diseases, implicating the HLA locus and IPMK (show IPMK Proteins) in the pathobiology of Alzheimer disease.
HLA-DRB5 affects type 1 diabetes risk and islet autoantibodies.
Brain DNA methylation (show HELLS Proteins) in HLA-DRB5 was associated with pathological Alzheimer disease.
findings indicated that copy number variants of HLA-DRB5 was associated with the risk of systemic lupus erythematosus, and copy number deletion appeared to be protective for SLE.
DRB5*01:01 is associated with Thai systemic lupus erythematosus; the association is stronger than that of DRB1*15:01; genetic contribution of DRB5*01:01 is due partially to linkage disequilibrium between DRB1*16:02 and DRB5*01:01 in northern Thai population
HLA-DRB5 was highly expressed in peripheral blood mononuclear cells from patients with systemic sclerosis-related interstitial lung disease. The HLA-DRB5*01:05 allele is a risk factor for interstitial lung disease in patients with systemic sclerosis.
Transgenic mice expressing HLA-DRB5*01:01 genes are crossed with histocompatibility class (MHC) II knockout mice to replace mouse MHC class II genes with human MHC class II genes in a humanized model of autoimmunity.
There are no significant differences in the HLA-DRB3 (show HLA-DRB3 Proteins)/B4/B5 homozygosity and heterozygosity rates between Korean males and females in both newborns and adults.
Eighteen out of 19 individuals showed HLA-DRB5, and none of the HLA-DRB5*null individuals, carried the HLADRB1* 15 allele. The findings support a contribution for HLA-DRB5 in keloid pathogenesis.
HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9.
, HLA class II histocompatibility antigen, DR beta 5 chain
, HLA class II histocompatibility antigen, DR-5 beta chain
, HLA class II histocompatibility antigen, DRB1-9 beta chain
, MHC HLA-DR-beta cell surface glycoprotein
, MHC HLA-DR-beta chain
, MHC class II HLA beta chain
, MHC class II antigen DRB1*9
, MHC class II antigen DRB5
, human leucocyte antigen DRB5
, leukocyte antigen class II