RGD Reference Report - HLA-DQB1*0201/0302 is associated with severe retinopathy in patients with IDDM. - Rat Genome Database

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HLA-DQB1*0201/0302 is associated with severe retinopathy in patients with IDDM.

Authors: Agardh, D  Gaur, LK  Agardh, E  Landin-Olsson, M  Agardh, CD  Lernmark, A 
Citation: Agardh D, etal., Diabetologia. 1996 Nov;39(11):1313-7.
RGD ID: 7483573
Pubmed: PMID:8932997   (View Abstract at PubMed)

Some insulin-dependent diabetic (IDDM) patients develop severe forms of retinopathy. Putative risk factors such as hypertension, poor metabolic control, nephropathy and growth hormone levels do not fully explain the progress of retinopathy in these patients. It has been discussed whether there is a genetic marker, since some diabetic patients without any known predisposing risk factors develop severe retinopathy and others do not. In the present study, HLA-DR and DQ were compared in two patient groups with IDDM. One group consisted of patients with early-onset diabetes, with severe non-proliferative or proliferative retinopathy; the other group had no or only mild signs of retinopathy. High resolution HLA typing was carried out by polymerase chain reaction (PCR) and hybridization with allele specific probes. Alleles on the DR3-DQ2 haplotype, DRB1*0301, DQA1*0501 and DQB1*0201, were more frequent in patients with severe retinopathy. A difference was seen when combining certain alleles in the genotypes of DQA1*03/0501 (p > 0.05) and DQB1*0201/0302 (p < 0.01). The findings of the present study suggest that DQB1*0201/0302 is the strongest genetic marker for severe retinopathy and DRB1*0301/0401 only has a secondary influence when combined with this genotype. It seems as if IDDM patients who are positive for the genotype DR3-DQ2/DR4-DQ8 (DRB1*0301-DQA1*0501-DQB1*0201/DRB1*0401 -DQA1*03-DQB1*0302) are at greater risk of developing severe retinopathy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
diabetic retinopathy severityISOHLA-DQB1 (Homo sapiens)7483573; 7483573DNA:polymorphisms more ...RGD 
diabetic retinopathy severityIAGP 7483573DNA:polymorphisms more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Retinal hemorrhage severityIAGP 7483573DNA:polymorphisms more ...RGD 
Retinal vascular malformation severityIAGP 7483573DNA:polymorphisms more ...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