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Hum Mutat. 2006 Apr;27(4):337-42.

Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD).

Author information

1
Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia. pnb@unimelb.edu.au

Abstract

Progression of age-related macular degeneration (AMD), the leading cause of blindness in the elderly, was followed in a cohort of 238 individuals from a single center. Individuals with an epsilon (epsilon)2 genotype (c.526C>T of reference sequence NM_000041.2) of the apolipoprotein (APOE) gene were found to be strongly associated with disease with a significant 4.8-fold increased relative risk compared to individuals with an epsilon4 genotype (c.388T>C of reference sequence NM_000041.2) (odds ratio [OR], 4.8; 95% confidence interval [CI], 1.19-19.09) and a nearly significant three-fold increased relative risk compared to individuals with an epsilon3 genotype (reference sequence NM_000041.2) (OR, 2.8; 95% CI, 0.96-19.09). This finding was present only in females who progressed with AMD, which suggests that there may be a gender-specific role in progression of AMD in individuals with an epsilon2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process.

PMID:
16453339
DOI:
10.1002/humu.20288
[Indexed for MEDLINE]

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