Associations of and Gene Polymorphisms with Neovascular Age-Related Macular Degeneration.

PURPOSE

This study aimed to determine the association of A69S, del443ins54, and Y402H polymorphisms with neovascular age-related macular degeneration (nAMD) for the first time in an Indonesian population.

PATIENTS AND METHODS

Our case-control study involved 104 nAMD and 100 control subjects. AMD diagnosis was evaluated by retinal specialists based on color fundus photography and optical coherence tomography. The polymorphisms on Y402H and A69S were analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP), whereas del443ins54 was evaluated by PCR-based assay.

RESULTS

Significant allelic associations with nAMD were detected on all polymorphisms (P<0.05), with stronger association with the A69S (OR 3.13; 95% CI 2.08-4.71; P<0.001) and del443ins54 (OR 3.28; 95% CI 2.17-4.95; P<0.001) polymorphisms than with Y402H (OR 2.08; 95% CI 1.08-3.99; P=0.028). Genotype analysis showed a statistical difference between nAMD and the control group for all polymorphisms (P<0.05). However, the association with nAMD was weaker for Y402H (P=0.043) than for A69S and del443ins54 (P<0.001). A significant interaction between A69S and hypertension was documented (OR 9.53; 95% CI 3.61-25.1; P<0.001).

CONCLUSION

Our findings indicate that A69S and del443ins54 polymorphisms are strongly associated with the risk of nAMD for the first time in an Indonesian population. The risk of nAMD increased when the presence of risk alleles from A69S was combined with the presence of hypertension.