Background & objectives: Age-related macular degeneration (AMD) is a disease affecting the central vision and causing irreversible blindness in aging patients. AMD is a complex disease caused by the actions and interactions of multiple genes and environmental factors. Genomic region at chromosome 10q26 may have a bigger role in susceptibility to AMD. Age-related maculopathy susceptibility 2 (LOC387715/age-related maculopathy susceptibility 2(ARMS2)) gene at 10q26 is associated with the risk of AMD. Here we studied (A69S) rs10490924 polymorphism of LOC387715 gene in AMD patients from East Azerbaijan province of Iran.

Methods: In this case-control study, the association of G>T in LOC387715/ARMS2 (A69S) rs10490924 polymorphism was investigated in 63 patients suffering from AMD and 150 healthy age, sex and ethnicity matched unrelated people as control group from northwest of Iran by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

Results: Statistical analysis showed high frequency of TT genotype in AMD patients (34.92%) compared to those of control group (6.67%), (p value=0.000 OR=11.9). The frequency of heterozygotes (GT) was 32.67% in control group and 38.1% in the case group (p=0.422). The frequency of homozygotes (GG) was 60.66% in control group and 26.98% in the case group (p=0.000). Genotype analysis of LOC387715 like other studies in Chinese, Japan and a population in Iran revealed significant association in distribution between patients and controls.

Conclusion: The data suggest that individuals from East Azerbaijan carrying TT genotype in LOC387715 have 11.9 times more risk of developing AMD compared to those carrying non-TT genotypes.