HLA-DRB1
Homo sapiens
Gene Name: major histocompatibility complex, class II, DR beta 1
Aliases: DRB1, HLA DRB1, HLA-DR1B
Chromosome No: 6
Chromosome Band: 6p21.32
Genetic Category: Genetic association-
Aliases: DRB1, HLA DRB1, HLA-DR1B
Chromosome No: 6
Chromosome Band: 6p21.32
Genetic Category: Genetic association-
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 1
Evidence score: null
ASD Reports: 11
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 1
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
The third hypervariable region (HVR-3) of certain DR beta 1 alleles have been found to have very strong association with autism (Warren et al., 1996).
Molecular Function
The encoded protein belongs to the MHC class II receptor and plays a central role in the immune response.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Strong association of the third hypervariable region of HLA-DR beta 1 with autism.
ASD
Positive Association
Association of HLA-DRB1 alleles and neuropsychological function in autism.
ASD
Positive Association
The transmission disequilibrium test suggests that HLA-DR4 and DR13 are linked to autism spectrum disorder.
ASD
Positive Association
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders.
ASD
Positive Association
HLA-class II haplotypes and Autism Spectrum Disorders.
ASD
Positive Association
DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia.
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
Highly Cited
The influence of HLA-DRB1 genes on disease severity in rheumatoid arthritis.
Recent Recommendation
Extensive multiallelic analysis of the relationship between HLA-DRB1 and rheumatoid arthritis using a Bayesian partition model.
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN120C003
allele
DR4 allele
103 ASD probands from Caucasian families, controls from the National Marrow Donor Program (NMDP)
Discovery
GEN120C004
allele
DR14 allele
141 ASD probands (87.2% male, mean age 8.1 4.0 years) and 156 healthy controls (38.6% male, mean age 46 18.8 years) of Han Chinese descent
Discovery
GEN120C005
allele
DR10 allele
SLI cohort: white British from centers across the UK
Discovery
GEN120C006
allele
DRB1*1104 allele
35 ASD cases and 100 controls (Saudi Arabia)
Discovery
GEN120C007
allele
DRB1*01 allele
35 ASD probands and 98 unrelated controls (Macedonia)
Discovery
GEN120C008
allele
12,331 Danish ASD cases and 19,645 Danish controls
Discovery
GEN120C009
allele
12,331 Danish ASD cases and 19,645 Danish controls
Discovery