HLA-B
Homo sapiens
Gene Name: Major histocompatibility complex, class I, B
Aliases: AS, HLAB, SPDA1
Chromosome No: 6
Chromosome Band: 6p21.33
Genetic Category: Genetic association
Aliases: AS, HLAB, SPDA1
Chromosome No: 6
Chromosome Band: 6p21.33
Genetic Category: Genetic association
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 1
Evidence score: null
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 1
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Different alleles of the HLA-B gene have been shown to nominally associate with ASD in case-control studies using two different populations (Al-Hakbany et al., 2014; Puangpetch et al., 2015).
Molecular Function
HLA-B belongs to the HLA class I heavy chain paralogues; class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study.
ASD
Positive Association
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders.
ASD, ID
Positive Association
Significant Association of HLA-B Alleles and Genotypes in Thai Children with Autism Spectrum Disorders: A Case-Control Study.
ASD
Negative Association
DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia.
ASD
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN795C006
allele
3,175 ID cases (1,423 ID without a diagnosis of ASD) and 19.645 controls from Denmark
Discovery
GEN795C007
allele
12,331 Danish ASD cases and 19,645 Danish controls
Discovery
