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Abstract #15324 Published in IGR 1-3
HLA-DRB and HLA-DQB loci in the genetic susceptibility to develop glaucoma in Mexicans
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 JAmerican Journal of Ophthalmology 1999; 128: 297-300
PURPOSE: Glaucoma is a clinically heterogeneous disease with a pathophysiology that may include genetic susceptibility, possibly associated with an immunological 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. The authors 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: The authors 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=0.0001). 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=0.0001). 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.
Dr. F. Gil-Carrasco, Department of Glaucoma, Asociacion Para Evitar La Ceguera en Mexico; Mexico
Classification:
1.2 Population genetics (Part of: 1 General aspects)
