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A. S. Pai, P. Mitchell, E. Rochtchina, S. Iyengar, J. J. Wang, Blue Mountains Eye Study; Bilateral Age-Related Macular Degeneration and Complement Factor H Genotypes. Invest. Ophthalmol. Vis. Sci. 2009;50(13):1664.
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We hypothesised that genetic susceptibility increases the likelihood that AMD lesions occur in both eyes rather than in only one eye. The purpose of this study was to determine whether complement factor H (CFH) genotypes influence bilateral involvement of age-related macular degeneration (AMD).
The Blue Mountains Eye Study (BMES) examined 3654 participants aged 49+ years at baseline (BMES-1, 1992-4), 2335 (75.3% of survivors) at 5-year (BMES-2, 1997-9) and 1952 (76.5%) at 10-year (BMES-3, 2002-4) follow-up examinations. Retinal photographs were graded following the Wisconsin AMD grading system. Early, late and any (early or late) AMD included prevalent and incident cases from all visits. CFH genotyping used Taqman assays.
Of 767 AMD cases, 53.3% of early, 53.1% of late and 60.4% of any AMD cases were bilateral. After adjusting for age, gender, current smoking and white cell count, compared to cases with unilateral early AMD signs, the CFH CC genotype was associated with an increased likelihood of bilateral involvement for any soft drusen (odds ratio [OR] 2.5, 95% confidence interval [CI] 1.4-4.5), distinct soft drusen (OR 2.8, CI 1.0-8.1), and retinal pigmentary abnormalities (OR 1.7, CI 1.0-2.8). A significant association was also found between the CFH CC genotype and bilateral involvement of any AMD (OR 2.4, CI 1.3-4.5). However, we could not establish a significant association between this risk genotype and bilateral late AMD (OR 1.8, CI 0.4-7.7), or either geographic atrophy (OR 0.6, CI 0.07-4.6) or neovascular changes (OR 3.4, CI 0.3-41.4) separately.
In this older Australian sample, we found that the CFH CC risk genotype was associated with an increased likelihood of bilateral involvement of early AMD lesions, independent of known AMD risk factors.
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