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.


CONCLUSIONS
Transferrin C2 and hemochromatosis C282Y alleles are not associated with increased risk for developing AMD in Israel.
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Saleh Abu
SA
Asleh
Michal
M
Lederman
Orly
O
Weinstein
Smadar
S
Horowitz
Tal
T
Meir
Amnon
A
Lahad
Nurit
N
Goldstein
Dror
D
Sharon
Shoshana
S
Israel
Itay
I
Chowers
D000368:Aged; D000483:Alleles; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007557:Israel / Q000453:epidemiology; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D014168:Transferrin / Q000235:genetics*
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin