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

• Published in: American journal of ophthalmology 1999-09, Vol.128 (3), p.297-300
• Main Authors: Gil-Carrasco, Felix, Vargas-Alarcón, Gilberto, Zúñiga, Joaquín, Tinajero-Castañeda, Olga, Hernández-Martinez, Betina, Hernández-Pacheco, Guadalupe, Rodríguez-Reyna, Tatiana Sofía, Hesiquio, Ramiro, Gamboa, Ricardo, Granados, Julio
• Format: Article
• Language: English
• Subjects: Alleles; Biological and medical sciences; Case-Control Studies; Cross-Sectional Studies; DNA - analysis; Gene Frequency; Genetic Predisposition to Disease; Glaucoma and intraocular pressure; Glaucoma, Open-Angle - ethnology; Glaucoma, Open-Angle - genetics; Haplotypes; HLA-DQ Antigens - genetics; HLA-DQ beta-Chains; HLA-DR Antigens - genetics; HLA-DRB1 Chains; Humans; Medical sciences; Mexico - ethnology; Ophthalmology; Polymorphism, Genetic
• ISSN: 0002-9394; 1879-1891
• DOI: 10.1016/S0002-9394(99)00180-4

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.