Role of Major Histocompatibility Complex Genes in the Susceptibility and Protection of Primary Open Angle Glaucoma and Primary Congenital Glaucoma

Félix Gil-Carrasco,Rafael García-Silva,José Ponce-Coria,Susana Hernández-Doño,Marla Alvarez-Padilla,Julio Granados

doi:10.2174/1874364102115010151

Abstract

Introduction: Glaucoma is a prevalent disease seen in the Ophthalmology department that includes a group of neurodegenerative eye pathologies associated with total loss of vision. It is known for its clinical diversity and secondary to this, it is assumed that multiple genes play a role in its pathogenesis. Among these, those that regulate the immune response which includes the HLA genes are of particular interest because they have been associated with a subgroup of glaucoma patients known as Primary Open Glaucoma. Methods: In this study, we studied 3 different groups of patients with glaucoma in whom HLA alleles were determined by sequence-specific primers (SSP) technique. Results: An association of HLA-DRB1*16 was found with the susceptibility to develop Primary Congenital Glaucoma. In addition, HLA-DRB1*14 was associated with glaucoma without angular dysgenesis, and HLA-DRB1*03 to glaucoma with iridocorneal dysgenesis. Conclusion: In conclusion, the data obtained allow us to suggest that glaucoma is a clinical and genetically heterogeneous disease in which one of the subgroups has an autoimmune mechanism in which the Mexican mestizo population shows genetic susceptibility and it differs from POAG with angular dysgenesis and POAG without dysgenesis.

Highlights

Glaucoma is a prevalent disease seen in the Ophthalmology department that includes a group of neurodegenerative eye pathologies associated with total loss of vision
There is a significant increase in the HLA DRB1*16 alleles in patients of groups 1 and 2 (P=0.05, OR=3.5, 95% CI=0.8-14.6)
When separating group 1 (PCG) from group 2 (POAG), it was found that the association with HLA-DR*16 is more evident in group 1, increasing Relative Risk to 4.6

Summary

Introduction

Glaucoma is a prevalent disease seen in the Ophthalmology department that includes a group of neurodegenerative eye pathologies associated with total loss of vision It is known for its clinical diversity and secondary to this, it is assumed that multiple genes play a role in its pathogenesis. Glaucoma is a term that describes a group of neurodegenerative eye pathologies characterized by the progressive and irreversible destruction of ganglion cells of the retina that is accompanied by morphological changes in the retina, among which the excavation of the optic nerve stands out These neurodegenerative processes are associated with decreased visual field followed by total loss of vision [1 - 3]. Primary open-angle glaucoma (POAG) has been defined as a progressive disease of the ganglion cells of the retina characterized by structural changes in the optic disc and by slow and progressive loss of vision [4]. Genes related to glaucoma are known, but given the clinical diversity of the condition, the existence of multiple genes additional to those already described is assumed [5 - 7].

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Results

Discussion

Conclusion