HLA-A
Homo sapiens
Gene Name: major histocompatibility complex, class I, A
Aliases: HLA A
Chromosome No: 6
Chromosome Band: 6p22.1
Genetic Category: Genetic Association--Rare single gene variant
Aliases: HLA A
Chromosome No: 6
Chromosome Band: 6p22.1
Genetic Category: Genetic Association--Rare single gene variant
Summary Statistics:
ASD Reports: 12
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 5
Evidence score: 0
ASD Reports: 12
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 5
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the HLA-A gene and autism in a Caucasian population cohort (Torres et al., 2006) as well as with an increase in CD4+ memory T cells in autistic children bearing the HLA A2 and DR11 alleles.
Molecular Function
The encoded protein belongs to the MHC class I receptor and plays a central role in the immune response.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The association and linkage of the HLA-A2 class I allele with autism.
ASD
Positive Association
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Positive Association
The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study.
ASD
Positive Association
Associations of HLA alleles with specific language impairment.
SLI
Positive Association
Significant association of HLA A2-DR11 with CD4 naive decrease in autistic children.
ASD
Positive Association
m(6)A Modification Genetic Variants Associated with Autism Spectrum Disorder Risks.
ASD
Negative Association
DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia.
ASD
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Highly Cited
Structure of the human class I histocompatibility antigen, HLA-A2.
Recent Recommendation
Cross-presentation of HLA class I epitopes from influenza matrix protein produced in Saccharomyces cerevisiae.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN119C002
allele
A1 allele
SLI cohort: white British from centers across the UK
Discovery
GEN119C003
allele
A3 allele
SLI cohort: white British from centers across the UK
Discovery
GEN119C004
allele
A*01 allele
35 ASD cases and 100 controls (Saudi Arabia)
Discovery
GEN119C005
allele
A*02 allele
35 ASD cases and 100 controls (Saudi Arabia)
Discovery
GEN119C006
intron_variant
rs115254791
c.73+54T>G;c.64+54T>G
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
GEN119C007
allele
12,331 Danish ASD cases and 19,645 Danish controls
Discovery
GEN119C008
intron_variant
rs9260201
c.1013-168T
Discovery cohort: 622 Chinese ASD cases and 622 controls. Replication cohort: 18,382 European ASD cases and 27,969 controls in iPSYCH.
Discovery & Replication
