Association between apolipoprotein E polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis

Thakkinstian, Ammarin, Bowe, Steve, McEvoy, Mark, Smith, Wayne and Attia, John 2006, Association between apolipoprotein E polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis, American journal of epidemiology, vol. 164, no. 9, pp. 813-822, doi: 10.1093/aje/kwj279.

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Title Association between apolipoprotein E polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis
Author(s) Thakkinstian, Ammarin
Bowe, SteveORCID iD for Bowe, Steve orcid.org/0000-0003-3813-842X
McEvoy, Mark
Smith, Wayne
Attia, John
Journal name American journal of epidemiology
Volume number 164
Issue number 9
Start page 813
End page 822
Total pages 10
Publisher Oxford University Press
Place of publication Oxford, Eng.
Publication date 2006-11-01
ISSN 0002-9262
Keyword(s) Science & Technology
Life Sciences & Biomedicine
Public, Environmental & Occupational Health
PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH, SCI
ApoE
epidemiology
genetics
meta-analysis
BEAVER DAM EYE
HARDY-WEINBERG
MOLECULAR ASSOCIATION
SUSCEPTIBILITY LOCI
E GENE
DISEQUILIBRIUM COEFFICIENT
MULTIVARIATE APPROACH
FAMILIAL AGGREGATION
EPSILON-4 ALLELE
DRUSEN FORMATION
Summary A possible association between apolipoprotein E polymorphisms and age-related macular degeneration has been investigated numerous times, with conflicting results. A previous analysis pooling results from four studies (Schmidt et al., Ophthalmic Genet 2002;23:209-23) suggested an association, but those investigators did not document allele frequencies, the magnitude of the association, or the possible genetic mode of action. Thus, the authors searched MEDLINE from 1966 to December 2005 for any English-language studies reporting genetic associations. Data and study quality were assessed in duplicate. Pooling was performed while checking for heterogeneity and publication bias. Frequencies of the E2 and E4 alleles in Caucasians were approximately 8% and 15%, respectively. Allele- and genotype-based tests of association indicated a risk effect of up to 20% for E2 and a protective effect of up to 40% for E4. E2 appeared to act in a recessive mode and E4 in a dominant mode. There appears to be a differential effect of the E2 and E4 alleles on the risk of age-related macular degeneration, although the possibility of survivor bias needs to be ruled out more definitively.
Language eng
DOI 10.1093/aje/kwj279
Field of Research 119999 Medical and Health Sciences not elsewhere classified
Socio Economic Objective 929999 Health not elsewhere classified
Copyright notice ©2006, Johns Hopkins Bloomberg School of Public Health
Persistent URL http://hdl.handle.net/10536/DRO/DU:30081016

Document type: Journal Article
Collection: PVC's Office - Health
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