association of SMUG1 gene polymorphism with age-related macular degeneration in Northwestern Iran

ABSTRACT

Age-related macular degeneration [AMD] is the most common cause of irreversible vision loss and debilitating disease in old age, which involves the central retina/macula among elderly patients. The genetic and environmental factors have important role in this multifactorial disease. Oxidative stress and DNA damages would have important impact on the onset and progression of AMD. In this study, the possible association of c.-31A>G [rs3087404] polymorphism in the promoter region of SMUG1 gene with AMD disease was investigated. Fifty five AMD patients and 130 healthy age-, gender- and ethnicity-matched unrelated people as control group were genotyped by restriction fragment length polymorphism PCR [RFLP-PCR]. Both groups were from Northwest of Iran [Tabriz]. Statistical analysis showed a significant association of AG genotype of this polymorphism with AMD. These results suggest a possible protective effect of this genotype for AMD disease [P=0.02, OR=0.574] among patients from Northwest of Iran. This genotype was observed more frequently in controls compared to the patients [59.23% v s 45.45%]