Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population

Background: Altered iron metabolism and transferrin expression were associated with neurodegenerations including age-related macular degeneration (AMD) and Alzheimer's disease (AD). Carriers of transferrin C2 allele alone or in combination with the hemochromatosis C282Y variant may have increased risk for developing AD. We aim to assess if these alleles also predispose to AMD. Methods: DNA was collected from 290 AMD patients and 157 unaffected, age-matched, controls. Genotyping was performed for transferrin C1/C2 alleles and hemochromatosis C282Y allele, and association with AMD was evaluated. Results: There was no association between the C1/C2 transferrin alleles and AMD. Hemochromatosis C282Y variant was identified in four individuals; one was an AMD patient and three were unaffected. Conclusion: Transferrin C2 and hemochromatosis C282Y alleles are not associated with increased risk for developing AMD in Israel.