RGD Reference Report - HLA-DRB and HLA-DQB loci in the genetic susceptibility to develop glaucoma in Mexicans. - Rat Genome Database

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HLA-DRB and HLA-DQB loci in the genetic susceptibility to develop glaucoma in Mexicans.

Authors: Gil-Carrasco, F  Vargas-Alarcon, G  Zuniga, J  Tinajero-Castaneda, O  Hernandez-Martinez, B  Hernandez-Pacheco, G  Rodriguez-Reyna, TS  Hesiquio, R  Gamboa, R  Granados, J 
Citation: Gil-Carrasco F, etal., Am J Ophthalmol. 1999 Sep;128(3):297-300.
RGD ID: 7365116
Pubmed: PMID:10511023   (View Abstract at PubMed)

PURPOSE: Glaucoma is a clinically heterogeneous disease with a pathophysiology that may include genetic susceptibility, possibly associated with an immunologic disorder. The aim of this study was to determine whether the DNA polymorphisms located in the HLA-DRB1 and HLA-DQB1 genes show a specific association pattern in Mexican mestizo patients with primary open-angle glaucoma. METHODS: This was a cross-sectional, case-control, multicenter study. We analyzed the HLA-DRB1 and DQB1 loci of 81 Mexican mestizo nonrelated patients with primary open-angle glaucoma and 98 healthy ethnic matched control subjects. Patients were diagnosed clinically and by visual fields examination. HLA typing was performed by PCR-SSO reverse dot blot. RESULTS: We documented increased frequencies of HLA-DRB1*0301, DRB1*1101, DRB1*0701, DRB1*1402, DQB1*0302, and DQB1*0301; however, none of them were significantly different from normal control subjects. Haplotype analysis showed that the HLA-DRB1*0407-DQB1*0302 haplotype is significantly increased in patients compared with control subjects (P = .0001). CONCLUSIONS: The haplotype HLA-DRB1*0407-DQB1*0302 is common among Mexican mestizo (haplotype frequency = 0.102), and it was increased in our patients (haplotype frequency = 0.259, P = .0001). This may reflect an independent association of this haplotype with the disease as the result of linkage disequilibrium or the influence of a neighboring gene. The pathophysiology of this illness is uncertain, and further studies are needed regarding the genetic susceptibility to develop primary open-angle glaucoma.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
glaucoma susceptibilityISOHLA-DQB1 (Homo sapiens)7365116; 7365116DNA:polymorphisms and haplotype:cds:HLA-DQB1*0302 (human)RGD 
glaucoma susceptibilityISOHLA-DRB1 (Homo sapiens)7365116; 7365116DNA:Haplotype: :HLA-DRB1*0407(human)RGD 
glaucoma susceptibilityIAGP 7365116DNA:polymorphisms and haplotype:cds:HLA-DQB1*0302 (human)RGD 
glaucoma susceptibilityIAGP 7365116DNA:Haplotype: :HLA-DRB1*0407(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information