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

Saleh Abu Asleh, Michal Lederman, Orly Weinstein, Smadar Horowitz, Tal Meir, Amnon Lahad, Nurit Goldstein, Dror Sharon, Shoshana Israel, Itay Chowers*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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.

Original languageAmerican English
Pages (from-to)161-164
Number of pages4
JournalOphthalmic Genetics
Volume30
Issue number4
DOIs
StatePublished - Nov 2009

Bibliographical note

Funding Information:
This study was supported in part by grants from the Binational United States–Israel Science Fund (BSF) and from the Hadassah–Hebrew University Medical Center. (I.C.)

Keywords

  • Age-related macular degeneration
  • Hemochromatosis
  • Transferrin

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