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A. M. Blonska, R. Haans, N. M. Pumariega, M. A. Sohrab, D. B. Madigan, J. E. Merriam, R. Allikmets, R. T. Smith; Association of High-Risk Alleles in Complement Factor H and ARMS2 With Reticular Macular Disease. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1270.
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Reticular pseudodrusen and reticular macular disease (RMD) confer greater risk for progression to advanced age-related macular degeneration (AMD) than ordinary large soft drusen. We determined the association of homozygous and heterozygous high-risk alleles in complement factor H (CFH; Y402H, rs1061170) and ARMS2 (A69S, rs10490924) loci with reticular macular disease (RMD) among patients diagnosed with AMD.
629 patients enrolled in the Macular Genetics Study at Columbia University classified as having early or late stage AMD per the International Grading System underwent genotyping to determine the CFH Y402H and ARMS2 A69S status. From the initial set, genotyping data for 23 patients identified from photographs as having RMD was compared to genotyping data from 46 age-matched, gender-matched, and clinical-stage matched controls without RMD.
Of the 69 patients included in the analysis, 17% were male and 83% were female, and the average age was 77 years. For both groups, 26% had early AMD (stage 3 or 2) and 74% had late AMD (stage 4A, 4B, or 4C). Data analysis using a logistic regression model including age, gender and AMD risk alleles found a significant association between homozygosity for the ARMS2 risk allele and the presence of RMD (p = 0.0128), relative risk (RR) of 2.13 (95% CI 1.14, 3.97), while homozygosity for the CFH risk alleles was associated with the absence of RMD (p = 0.0237), RR 0.23, (95% CI 0.06, 0.90).
The increased female-to-male ratio and increased late-stage disease in patients with RMD were consistent with prior studies. Patients with RMD were more likely to be homozygous for the ARMS2 high-risk allele than matched AMD patients without RMD, while patients without RMD were more likely to be homozygous for the high-risk allele in CFH. Further recruitment and genetic analysis of RMD patients is necessary and ongoing to elucidate these relationships.
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