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Anita Agarwal, Brian L. Yaspan, Kelly Taylor, Kylee Spencer, Lana M. Olson, Jaclyn L. Kovach, Stephen G. Schwartz, William K. Scott, Margaret A. Pericak-Vance, Jonathan L. Haines; Impact of Genes and Environment on AMD Progression. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5239.
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To determine the impact of genetic variants and systemic risk factors on progression of early and intermediate AMD.
We reviewed the clinical, genotype, and environmental risk factor data on the subset of patients with AMD Grades 2, 3 and 4 (early and intermediate AMD) in one or both eyes from our dataset of AMD patients. Evidence of progression or non progression of AMD grade was established by evaluating serial fundus photographs at various time intervals. Of a total of 962 AMD patients ascertained, 86 with early or intermediate AMD in one or both eyes had fundus photographs available at multiple follow up visits. Progressors (P) were defined as those who advanced by one or more grade in at least one eye. We tested unilateral and bilateral progression of AMD for univariate association with CFH Y402H, ARMS2 A69S, CFB R32Q, C3 R102G, mito4917, and including age at initial exam, gender, smoking, and body mass index (BMI) as covariates in logistic regression.
Group 1 (58 patients) had bilateral intermediate AMD, and Group 2 (28 patients) had intermediate in one eye and neovascular AMD in the fellow eye. Average followup was 3.4 years. Group 1 had 39 non progressors (NP), 11 unilateral P and 8 bilateral P. Group 2 had 17 NP and 11 P. One SNP, rs641153 in CFB was nominally associated with progression in our cohort of Caucasian individuals (p=0.04), with the bilateral progressors contributing most to the signal (p=0.069) compared to the unilateral progressors (p=0.45). Although a small cohort, it is striking that the allele frequency of the minor allele in the progressors (MAF = 0.095) is roughly 5.5x that of the non-progressors (MAF = 0.017). No other SNP approached statistical significance.
In this small dataset, CFB R32Q has a suggestive risk for progression in patients with bilateral intermediate AMD. This ongoing study is prospectively recruiting patients to further evaluate these results.
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