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

✍ Scribed by Paul N. Baird; Andrea J. Richardson; Luba D. Robman; Peter N. Dimitrov; Gabriella Tikellis; Catherine A. McCarty; Robyn H. Guymer

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 156 KB
Volume: 27
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20288

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✦ Synopsis

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 (e)2 genotype (c.526C4T 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 e4 genotype (c.388T4C 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 e3 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 e2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process. Hum Mutat 27(4), 337-342, 2006. r

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