Study of C-2518T Polymorphism of CCL2 Gene in Age Related Macular Degeneration Patients from Northwest of Iran

Introduction &

Age-related macular degeneration (AMD) is a disease affecting the central regions of the retina and choroid, which can lead to loss of central vision. Etiological research suggests that AMD is a complex disease, caused by the actions and interactions of multiple genes and environmental factors. Numerous studies have focused on the role of chemotactic cytokines, also known as chemokines. Certain chemokines, such as CCL2 appear to be crucial in development of retinal degeneration and choroidal neovascularization. To de-termine whether variants in the CCL2 gene are associated with age-related macular degenera-tion we studied C-2518T polymorphism of this gene in AMD patients from Northwest of Iran.

In this case-control study, the association of C-2518T polymorphism in the promoter region of CCL2 gene was investigated in 60 patients suffering from AMD and 50 healthy age, sex and ethnicity matched unrelated people as control group. Both of the case and control groups were originated from Northwest of Iran. Genotypes of both groups were determined by polymerase chain reaction (PCR) and restriction fragment length polymor-phism (RFLP).

Statistical analysis shows high frequency of TT genotype and T allele in AMD pa-tients compared to those of control group though the observed difference was not statistically significant.

Despite the existence of small differences between case and control groups statis-tical analysis of single nucleotide polymorphism (SNPs) in the CCL2 gene did not show a significant association between C-2518T polymorphism and age-related macular degenera-tion.