HLA-DRB and HLA-DQB loci in the genetic susceptibility to develop glaucoma in Mexicans.
OBJECTIVE
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.
Gil-Carrasco
F
F
Department of Glaucoma, Asociación Para Evitar La Ceguera en México.
Vargas-Alarcón
G
G
Zúñiga
J
J
Tinajero-Castañeda
O
O
Hernández-Martinez
B
B
Hernández-Pacheco
G
G
Rodríguez-Reyna
T S
TS
Hesiquio
R
R
Gamboa
R
R
Granados
J
J
D000483:Alleles; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D004247:DNA / Q000032:analysis; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000208:ethnology* / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006239:Haplotypes; D006801:Humans; D008800:Mexico / Q000208:ethnology; D011110:Polymorphism, Genetic
D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C553502:HLA-DRB1*03:01 antigen; D004247:DNA