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Abraham Abraamyan, Brent Zanke, Preveen Ramamoorthy, Kent Small; Genetic Testing for Age-Related Macular Degeneration in an Armenian Population. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6196.
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Age-related macular degeneration (ARMD) has a significant genetic influence, especially in Caucasian groups. The Armenian ethnogenesis dates back at least 3,000 years and is considered to be a genetically isolated population. Additionally, the Armenian genocide created a genetic bottleneck. Because of these demographics, we hypothesized that the genetic involvement in ARMD may be different than that of other Caucasian populations. To our knowledge, this is the first reported evaluation of the genetic contribution of AMRD susceptibility genes in an Armenian population.
A retrospective review was performed of 38 Armenian patients with wet (exudative) ARMD who had genetic analysis using the commercially available Macula Risk genotyping method. We obtained buccal cheek swabs which were sent to Advanced Diagnostic Laboratories for routine clinical testing of previously documented ARMD risk alleles: Complement Factor H (CFH) with 5 Single Nucleotide Polymorphisms, Complement Component 3 (C3), Age-Related Maculopathy Susceptibility 2 (ARMS2) and mitochondrially encoded NADH dehydrogenase 2 (MT-ND2). Each genetic component adds to a specific portion of a Macula Risk score, which predicts risk of developing advanced macular degeneration. This was compared to the Macula Risk genetic database of a 786 person Caucasian population with wet ARMD. The data was analyzed using Mann-Whitney U test to show differences in age and Macula Risk score. Chi squared test with two degrees of freedom was used to show differences in the genotypes (except MT-ND2, which only required a 2x2 table).
The Mann-Whitney U tests show no statistically significant difference between the Armenian and Caucasian data sets for Macula Risk score. The average age for Armenians (83.6) was higher than Caucasians (79.8), p=0.04. The Chi squared tests show no statistically significant difference between the genotypes.
In Armenian and Caucasian patients with wet ARMD, there is no difference between genotypes and Macula Risk score. Although we found no statistical significance, our data set is relatively small and may not be sufficiently powered. Additional analysis is necessary to evaluate the reasons contributing to the age difference within these populations. In patients who present with wet ARMD, we can find no genetic difference in the ARMD risk alleles in the Armenian population compared to the Caucasian population.
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