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Cold Spring Harb Perspect Med. 2014 Nov 6;5(3):a017202. doi: 10.1101/cshperspect.a017202.

Highly penetrant alleles in age-related macular degeneration.

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Department of Ophthalmology and Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.


Age-related macular degeneration (AMD) is a complex disease caused by a combination of genetic and environmental factors. Genome-wide association studies have identified several common genetic variants associated with AMD, which together account for 15%-65% of the heritability of AMD. Multiple hypotheses to clarify the unexplained portion of genetic variance have been proposed, such as gene-gene interactions, gene-environment interactions, structural variations, epigenetics, and rare variants. Several studies support a role for rare variants with large effect sizes in the pathogenesis of AMD. In this work, we review the methods that can be used to detect rare variants in common diseases, as well as the recent progress that has been made in the identification of rare variants in AMD. In addition, the relevance of these rare variants for diagnosis, prognosis, and treatment of AMD is highlighted.

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