Lack of association between the c.544G>A polymorphism of the heme oxygenase-2 gene and age-related macular degeneration

Abstract

Background: Age-related macular degeneration (AMD) is a primary cause of blindness among the elderly in developed countries. The nature of AMD is complex and includes both environmental and hereditary factors. Oxidative stress is thought to be essential in AMD pathogenesis. Iron is suggested to be implicated in the pathogenesis of AMD through the catalysis of the production of reactive oxygen species, which can damage the retina. Heme oxygenase-2 is capable of degradation of heme producing free iron ions, thus, diversity in heme oxygenase-2 gene may contribute to AMD. In the present work we analyzed the association between the c.544G>A polymorphism of the heme oxygenase-2 gene (HMOX2) (rs1051308) and AMD.

Material/methods: This study enrolled 276 AMD patients and 105 sex- and age-matched controls. Genotyping of the polymorphism was performed with restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) on DNA isolated from peripheral blood.

Results: We did not find any association between the genotypes of the c.544G>A polymorphism and the occurrence of AMD. This lack of association was independent of potential AMD risk factors: tobacco smoking, sex and age. Moreover, we did not find any association between AMD and smoking in our study population.

Conclusions: The results suggest that the c.544G>A polymorphism of the heme oxygenase-2 gene is not associated with AMD in this Polish subpopulation.

Figure 1

Genotypes of the c.544A>G polymorphism of the HMOX2 gene (rs1051308) determined by the polymerase chain reaction-restriction fragment length polymorphism with, analyzed by 8% polyacrylamide gel electrophoresis, stained with ethidium bromide and viewed under UV light. Lane PCR represent product M shows GeneRuler™ 100 bp molecular weight marker, all remaining lanes present genotypes indicated in the upper part of the picture.