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Stuart Cantsilieris, Stefan J. White, Robyn H. Guymer, Paul N. Baird; Assessment of Copy Number Variation in Genes Associated with in Age related Macular Degeneration (AMD). Invest. Ophthalmol. Vis. Sci. 2012;53(14):3305.
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© ARVO (1962-2015); The Authors (2016-present)
Copy number variation (CNV) is an important component of genetic diversity and disease. We have previously reported an association with the deletion of the CFHR3-1 genes in AMD. Recently, two new genetic loci (VEGFA and TNFRSF10A) have been shown to be associated with risk of Age related Macular Degeneration (AMD). TNFRSF10A is part of a family of genes including TNFRSF10C and TNFRSF10D that are flanked by segmental duplications and the genomic architecture suggests that this region encompasses CNV. In support of this, information from the database of genomic variants for both VEGFA and TNFRS10A has reported CNVs in both regions. We wished to determine the potential role of these CNVs in AMD.
Multiplex Ligation dependant Probe Amplification (MLPA) was employed, probes were designed to the eight coding exons within the VEGFA gene and two probes were designed in each of the TNFRSF genes. Copy number analysis was performed in 100 cases of neovascular AMD and 100 controls with no AMD using individuals of European descent.
CNVs were not detected in either the VEGFA or TNFRSF10A genes. The standard deviation of all probe designs was <10% indicating that the assays were reliable for detecting copy number variation in these two regions.
CNVs were not detected at these two genes in this study. However it is worth noting that as the number of AMD associated loci increases, it remains important to analyze all types of genetic variation including Single Nucleotide Polymorphisms, Copy Number Variants, Insertion Deletion Polymorphisms and Methylation. An integrated approach encompassing all aspects of potential genetic variation will lead to a better elucidation of the genetic basis of common complex diseases such as AMD.
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