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Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is the most common geriatric eye disorder leading to blindness and is characterized by degeneration of the neuroepithelium in the macular area of the eye. Apolipoprotein E (apoE), the major apolipoprotein of the CNS and an important regulator of cholesterol and... Full description

Journal Title: American journal of human genetics 1998, Vol.63 (1), p.200-206
Main Author: Klaver, Caroline C.W
Other Authors: Kliffen, Mike , van Duijn, Cornelia M , Hofman, Albert , Cruts, Marc , Grobbee, Diederick E , van Broeckhoven, Christine , de Jong, Paulus T.V.M
Format: Electronic Article Electronic Article
Language: English
Subjects:
Non
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1377225
title: Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration
format: Article
creator:
  • Klaver, Caroline C.W
  • Kliffen, Mike
  • van Duijn, Cornelia M
  • Hofman, Albert
  • Cruts, Marc
  • Grobbee, Diederick E
  • van Broeckhoven, Christine
  • de Jong, Paulus T.V.M
subjects:
  • Aged
  • Alleles
  • Apolipoprotein E
  • Apolipoproteins
  • Apolipoproteins E
  • Apolipoproteins E - genetics
  • Biological and medical sciences
  • Chromosome mapping
  • cytology
  • Epidemiology
  • eye diseases
  • Genetic
  • Genetic aspects
  • Genetic disorders
  • genetic structures
  • Genetics
  • Genetics(clinical)
  • Genotype
  • Geriatric ophthalmology
  • Gov't
  • Humans
  • Immunochemistry
  • lipids (amino acids
  • Macula Lutea
  • Macula Lutea - cytology
  • Macular Degeneration
  • Macular Degeneration - genetics
  • Macular degeneration age related
  • Medical sciences
  • Middle Aged
  • Netherl
  • Netherlands
  • Neurodegeneration
  • Non
  • Ophthalmology
  • peptides
  • Polymorphism
  • Polymorphism(s)
  • Polymorphism, Genetic - genetics
  • proteins
  • Research Article
  • Research Support
  • Retinal degeneration
  • Retinopathies
  • Risk Factors
  • sense organs
  • Usage
ispartof: American journal of human genetics, 1998, Vol.63 (1), p.200-206
description: Age-related macular degeneration (AMD) is the most common geriatric eye disorder leading to blindness and is characterized by degeneration of the neuroepithelium in the macular area of the eye. Apolipoprotein E (apoE), the major apolipoprotein of the CNS and an important regulator of cholesterol and lipid transport, appears to be associated with neurodegeneration. The apoE gene (APOE) polymorphism is a strong risk factor for various neurodegenerative diseases, and the apoE protein has been demonstrated in disease-associated lesions of these disorders. Hypothesizing that variants of APOE act as a potential risk factor for AMD, we performed a genetic-association study among 88 AMD cases and 901 controls derived from the population-based Rotterdam Study in the Netherlands. The APOE polymorphism showed a significant association with the risk for AMD; the APOE ɛ4 allele was associated with a decreased risk (odds ratio 0.43 [95% confidence interval 0.21–0.88]), and the ɛ2 allele was associated with a slightly increased risk of AMD (odds ratio 1.5 [95% confidence interval 0.8–2.82]). To investigate whether apoE is directly involved in the pathogenesis of AMD, we studied apoE immunoreactivity in 15 AMD and 10 control maculae and found that apoE staining was consistently present in the disease-associated deposits in AMD-maculae–that is, drusen and basal laminar deposit. Our results suggest that APOE is a susceptibility gene for AMD.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleGenetic Association of Apolipoprotein E with Age-Related Macular Degeneration
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creatorKlaver, Caroline C.W ; Kliffen, Mike ; van Duijn, Cornelia M ; Hofman, Albert ; Cruts, Marc ; Grobbee, Diederick E ; van Broeckhoven, Christine ; de Jong, Paulus T.V.M
creatorcontribKlaver, Caroline C.W ; Kliffen, Mike ; van Duijn, Cornelia M ; Hofman, Albert ; Cruts, Marc ; Grobbee, Diederick E ; van Broeckhoven, Christine ; de Jong, Paulus T.V.M
descriptionAge-related macular degeneration (AMD) is the most common geriatric eye disorder leading to blindness and is characterized by degeneration of the neuroepithelium in the macular area of the eye. Apolipoprotein E (apoE), the major apolipoprotein of the CNS and an important regulator of cholesterol and lipid transport, appears to be associated with neurodegeneration. The apoE gene (APOE) polymorphism is a strong risk factor for various neurodegenerative diseases, and the apoE protein has been demonstrated in disease-associated lesions of these disorders. Hypothesizing that variants of APOE act as a potential risk factor for AMD, we performed a genetic-association study among 88 AMD cases and 901 controls derived from the population-based Rotterdam Study in the Netherlands. The APOE polymorphism showed a significant association with the risk for AMD; the APOE ɛ4 allele was associated with a decreased risk (odds ratio 0.43 [95% confidence interval 0.21–0.88]), and the ɛ2 allele was associated with a slightly increased risk of AMD (odds ratio 1.5 [95% confidence interval 0.8–2.82]). To investigate whether apoE is directly involved in the pathogenesis of AMD, we studied apoE immunoreactivity in 15 AMD and 10 control maculae and found that apoE staining was consistently present in the disease-associated deposits in AMD-maculae–that is, drusen and basal laminar deposit. Our results suggest that APOE is a susceptibility gene for AMD.
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subjectAged ; Alleles ; Apolipoprotein E ; Apolipoproteins ; Apolipoproteins E ; Apolipoproteins E - genetics ; Biological and medical sciences ; Chromosome mapping ; cytology ; Epidemiology ; eye diseases ; Genetic ; Genetic aspects ; Genetic disorders ; genetic structures ; Genetics ; Genetics(clinical) ; Genotype ; Geriatric ophthalmology ; Gov't ; Humans ; Immunochemistry ; lipids (amino acids ; Macula Lutea ; Macula Lutea - cytology ; Macular Degeneration ; Macular Degeneration - genetics ; Macular degeneration age related ; Medical sciences ; Middle Aged ; Netherl ; Netherlands ; Neurodegeneration ; Non ; Ophthalmology ; peptides ; Polymorphism ; Polymorphism(s) ; Polymorphism, Genetic - genetics ; proteins ; Research Article ; Research Support ; Retinal degeneration ; Retinopathies ; Risk Factors ; sense organs ; Usage
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7de Jong, Paulus T.V.M
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descriptionAge-related macular degeneration (AMD) is the most common geriatric eye disorder leading to blindness and is characterized by degeneration of the neuroepithelium in the macular area of the eye. Apolipoprotein E (apoE), the major apolipoprotein of the CNS and an important regulator of cholesterol and lipid transport, appears to be associated with neurodegeneration. The apoE gene (APOE) polymorphism is a strong risk factor for various neurodegenerative diseases, and the apoE protein has been demonstrated in disease-associated lesions of these disorders. Hypothesizing that variants of APOE act as a potential risk factor for AMD, we performed a genetic-association study among 88 AMD cases and 901 controls derived from the population-based Rotterdam Study in the Netherlands. The APOE polymorphism showed a significant association with the risk for AMD; the APOE ɛ4 allele was associated with a decreased risk (odds ratio 0.43 [95% confidence interval 0.21–0.88]), and the ɛ2 allele was associated with a slightly increased risk of AMD (odds ratio 1.5 [95% confidence interval 0.8–2.82]). To investigate whether apoE is directly involved in the pathogenesis of AMD, we studied apoE immunoreactivity in 15 AMD and 10 control maculae and found that apoE staining was consistently present in the disease-associated deposits in AMD-maculae–that is, drusen and basal laminar deposit. Our results suggest that APOE is a susceptibility gene for AMD.
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1Alleles
2Apolipoprotein E
3Apolipoproteins
4Apolipoproteins E
5Apolipoproteins E - genetics
6Biological and medical sciences
7Chromosome mapping
8cytology
9Epidemiology
10eye diseases
11Genetic
12Genetic aspects
13Genetic disorders
14genetic structures
15Genetics
16Genetics(clinical)
17Genotype
18Geriatric ophthalmology
19Gov't
20Humans
21Immunochemistry
22lipids (amino acids
23Macula Lutea
24Macula Lutea - cytology
25Macular Degeneration
26Macular Degeneration - genetics
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28Medical sciences
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30Netherl
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36Polymorphism
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39proteins
40Research Article
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43Retinopathies
44Risk Factors
45sense organs
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titleGenetic Association of Apolipoprotein E with Age-Related Macular Degeneration
authorKlaver, Caroline C.W ; Kliffen, Mike ; van Duijn, Cornelia M ; Hofman, Albert ; Cruts, Marc ; Grobbee, Diederick E ; van Broeckhoven, Christine ; de Jong, Paulus T.V.M
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1Alleles
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18Geriatric ophthalmology
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21Immunochemistry
22lipids (amino acids
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24Macula Lutea - cytology
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26Macular Degeneration - genetics
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abstractAge-related macular degeneration (AMD) is the most common geriatric eye disorder leading to blindness and is characterized by degeneration of the neuroepithelium in the macular area of the eye. Apolipoprotein E (apoE), the major apolipoprotein of the CNS and an important regulator of cholesterol and lipid transport, appears to be associated with neurodegeneration. The apoE gene (APOE) polymorphism is a strong risk factor for various neurodegenerative diseases, and the apoE protein has been demonstrated in disease-associated lesions of these disorders. Hypothesizing that variants of APOE act as a potential risk factor for AMD, we performed a genetic-association study among 88 AMD cases and 901 controls derived from the population-based Rotterdam Study in the Netherlands. The APOE polymorphism showed a significant association with the risk for AMD; the APOE ɛ4 allele was associated with a decreased risk (odds ratio 0.43 [95% confidence interval 0.21–0.88]), and the ɛ2 allele was associated with a slightly increased risk of AMD (odds ratio 1.5 [95% confidence interval 0.8–2.82]). To investigate whether apoE is directly involved in the pathogenesis of AMD, we studied apoE immunoreactivity in 15 AMD and 10 control maculae and found that apoE staining was consistently present in the disease-associated deposits in AMD-maculae–that is, drusen and basal laminar deposit. Our results suggest that APOE is a susceptibility gene for AMD.
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