RGD Reference Report - HLA typing in patients with ocular manifestations of Stevens-Johnson syndrome. - Rat Genome Database

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HLA typing in patients with ocular manifestations of Stevens-Johnson syndrome.

Authors: Power, WJ  Saidman, SL  Zhang, DS  Vamvakas, EC  Merayo-Lloves, JM  Kaufman, AH  Foster, CS 
Citation: Power WJ, etal., Ophthalmology. 1996 Sep;103(9):1406-9.
RGD ID: 7483570
Pubmed: PMID:8841298   (View Abstract at PubMed)

BACKGROUND: Stevens-Johnson syndrome (SJS) is an acute, self-limited, inflammatory disorder of the skin and mucous membranes. With ocular involvement, SJS has been associated with the class I human leukocyte antigen (HLA)-Bw44. This study examined HLA class II associations in patients with SJS with ocular involvement to help identify possible molecular genetic mechanisms underlying disease susceptibility/resistance. METHODS: Twenty-three white patients with ocular complications secondary to SJS had HLA class II typing performed using polymerase chain reaction-based molecular techniques. Genotype frequency was compared with results obtained from 175 control subjects. RESULTS: HLA-DQB1*0601 was present in four (17%) patients with SJS and in five (3%) control subjects (P < 0.05; relative risk = 7.2). There was no association with HLA-DQB1*0301, which previously has been been strongly associated with recurrent erythema multiforme. None of the class II antigens tested appeared to offer a protective effect against the development of disease. CONCLUSION: HLA-DQB1*0601 was found in a significantly disproportionate number of white patients with SJS and ocular complications. The presence of this allele may confer an increased risk for the development of SJS with ocular complications and provides further evidence for an underlying immunogenetic susceptibility to the development of this disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Stevens-Johnson syndrome susceptibilityISOHLA-DQB1 (Homo sapiens)7483570; 7483570DNA:polymorphism:cds:HLA-DQB1*0601 (human)RGD 
Stevens-Johnson syndrome susceptibilityIAGP 7483570DNA:polymorphism:cds:HLA-DQB1*0601 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal blistering of the skin susceptibilityIAGP 7483570DNA:polymorphism:cds:HLA-DQB1*0601 RGD 
Fever susceptibilityIAGP 7483570DNA:polymorphism:cds:HLA-DQB1*0601 RGD 
Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)


Additional Information