RGD Reference Report - HLA typing in birdshot chorioretinopathy. - Rat Genome Database

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HLA typing in birdshot chorioretinopathy.

Authors: Priem, HA  Kijlstra, A  Noens, L  Baarsma, GS  De Laey, JJ  Oosterhuis, JA 
Citation: Priem HA, etal., Am J Ophthalmol. 1988 Feb 15;105(2):182-5.
RGD ID: 7365121
Pubmed: PMID:3341436   (View Abstract at PubMed)

We examined 49 patients with birdshot chorioretinopathy in whom HLA typing had been performed. Of these 49 patients, 47 (95.9%) had the HLA-A29 antigen. The HLA-B12 (B44) antigen was also significantly associated with the disease, but this antigen is known to be in linkage disequilibrium with the antigen HLA-A29. The HLA-A2 antigen was less frequent in patients with birdshot chorioretinopathy than in the control group of normal European individuals (20% as compared to 44.6%).



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Q4Mousebirdshot chorioretinopathy  ISOHLA-B (Homo sapiens)DNA:polymorphisms:cds:HLA-B12 (human) RGD 
HLA-BHumanbirdshot chorioretinopathy  IAGP DNA:polymorphism:cds:HLA-B12 (human)RGD 
RT1-CE13Ratbirdshot chorioretinopathy  ISOHLA-B (Homo sapiens)DNA:polymorphisms:cds:HLA-B12 (human) RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HLA-BHumanAbnormal retinal vascular morphology  IAGP DNA:polymorphism:cds:HLA-B12 (human)RGD 
HLA-BHumanAbnormality of retinal pigmentation  IAGP DNA:polymorphism:cds:HLA-B12RGD 
HLA-BHumanCystoid macular edema  IAGP DNA:polymorphism:cds:HLA-B12 (human)RGD 
HLA-BHumanOptic atrophy  IAGP DNA:polymorphism:cds:HLA-B12 (human)RGD 
HLA-BHumanVitritis  IAGP DNA:polymorphism:cds:HLA-B12 (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
RT1-CE13  (RT1 class I, locus CE13)

Genes (Mus musculus)
H2-Q4  (histocompatibility 2, Q region locus 4)

Genes (Homo sapiens)
HLA-B  (major histocompatibility complex, class I, B)


Additional Information