gene polymorphism and the phenotype of age-related macular degeneration.

AIM

To examine the gene polymorphism and the phenotype characterized by soft and hard drusen of early age-related macular degeneration (AMD) and geographic atrophy of late AMD form.

METHODS

The study enrolled 850 investigations (290 AMD patients with soft and hard drusen, 34 with geographic atrophy and a random sample of the population =526). Early AMD was classified according to the International Classification and Grading System. For geographic atrophy diagnosis the Age-Related Eye Disease Study classification was used. The potential association with single nucleotide polymorphisms on was evaluated for all patients, adjusted for age and sex. The genotyping test of was conducted using the real-time polymerase chain reaction method.

RESULTS

genotype was more frequently detected in AMD patients with hard drusen than the soft drusen or control group (66.43% 53.74%, 54.94%, =0.047). Logistic regression analysis showed that the genotype increased the likelihood to develop hard drusen in AMD patients (OR=1.7, 95% CI: 1.06-2.74; =0.028). No association between gene polymorphism in patients with atrophic AMD and control group was found (54.94%, 37.64%, 7.41% 50%, 38.24%, 11.76%; =0.6).

CONCLUSION

The polymorphism is found to be associated with the development of hard drusen in patients with AMD.