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

doi:10.3109/13816810903147998

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

Research output: Contribution to journal › Article › peer-review

2 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 language	English
Pages (from-to)	161-164
Number of pages	4
Journal	Ophthalmic Genetics
Volume	30
Issue number	4
DOIs	https://doi.org/10.3109/13816810903147998
State	Published - 1 Nov 2009
Externally published	Yes

Keywords

Age-related macular degeneration
Hemochromatosis
Transferrin

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

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10.3109/13816810903147998

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@article{2a067b15d38946ddb345c469fe241ad0,

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

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.",

keywords = "Age-related macular degeneration, Hemochromatosis, Transferrin",

author = "Asleh, {Saleh Abu} and Michal Lederman and Orly Weinstein and Smadar Horowitz and Tal Meir and Amnon Lahad and Nurit Goldstein and Dror Sharon and Shoshana Israel and Itay Chowers",

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.)",

year = "2009",

month = nov,

day = "1",

doi = "10.3109/13816810903147998",

language = "English",

volume = "30",

pages = "161--164",

journal = "Ophthalmic Genetics",

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TY - JOUR

T1 - Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population

AU - Asleh, Saleh Abu

AU - Lederman, Michal

AU - Weinstein, Orly

AU - Horowitz, Smadar

AU - Meir, Tal

AU - Lahad, Amnon

AU - Goldstein, Nurit

AU - Sharon, Dror

AU - Israel, Shoshana

AU - Chowers, Itay

N1 - 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.)

PY - 2009/11/1

Y1 - 2009/11/1

N2 - 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.

AB - 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.

KW - Age-related macular degeneration

KW - Hemochromatosis

KW - Transferrin

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DO - 10.3109/13816810903147998

M3 - Article

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SN - 1381-6810

VL - 30

SP - 161

EP - 164

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 4

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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