Association of Apolipoprotein E (APOE) Gene Polymorphism With Age-Related Macular Degeneration (AMD) in Indian Patients.

Background Age-related macular degeneration (AMD or ARMD; Online Mendelian Inheritance in Man (OMIM) #603075) is the degenerative disease of the retina that causes progressive impairment of central vision, leading to irreparable vision loss in older persons. Objective The objective was to investigate the association between apolipoprotein E (APOE) gene polymorphism and AMD in Indian patients. Materials and methods Genotyping for APOEvariants was performed in 121 AMD patients and 100 healthy controls using a polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method, followed by sequencing. Genotype and allele were analyzed using the allele counting method. P-value < 0.05 was considered statistically significant. Results The E3/E3 genotype has a frequency of 76/100 (76%) in controls and 97 (80%) in AMD. The frequency of the heterozygous E2/E2 genotype was 19 (19%) in controls and eight (6.6%) in AMD, and the variant E4/E4 genotype was found in one control (1%) and in one AMD case (1%). Some protective effect of the E2/E2 heterozygous genotype is seen (OR = 0.30;