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Archives of Ophthalmology
Article . 2012 . Peer-reviewed
Data sources: Crossref
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Population Differences in Genetic Risk for Age-Related Macular Degeneration and Implications for Genetic Testing

Authors: Kimberly Glenn; Kylee L. Spencer; Dana C. Crawford; Kristin Brown-Gentry; Jonathan L. Haines;

Population Differences in Genetic Risk for Age-Related Macular Degeneration and Implications for Genetic Testing

Abstract

To the Editor: The personal genetics revolution has promised patients an accounting of their individual risk of common, complex diseases based on their DNA sequence. Though under increased scrutiny from the Food and Drug Administration, several direct-to-consumer (DTC) genetic testing companies offer such services, and conflicting results for the same disease in the same individual are commonly reported1. Even for an unusual case like age-related macular degeneration (AMD) for which a small number of loci with strong effects has consistently replicated across studies, it is extremely difficult to predict who will or will not develop disease2. Furthermore, most genetic association studies have been conducted in European Americans, and because the frequency of genetic polymorphisms varies across race-ethnicities, the predictive value of any genetic algorithm developed in one population may not translate to another. We have seen an extreme example of this for the ARMS2 AMD susceptibility locus. The non-synonymous coding variant A69S within ARMS2 is one of the strongest genetic risk factors for AMD (odds ratios (OR) ~2.2 in heterozygotes, ~7.1 in homozygotes3 in European Americans). This variant (or others in strong linkage disequilibrium with it) has been used in predictive algorithms published in the scientific literature2, 4, marketed by DTC companies, and in the Macula Risk™ test available by physician order.

Related Organizations
Keywords

Polymorphism, Genetic, Genotype, Proteins, Middle Aged, White People, Black or African American, Macular Degeneration, Cross-Sectional Studies, Genetics, Population, Mexican Americans, Humans, Genetic Predisposition to Disease, Genetic Testing

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
24
Top 10%
Top 10%
Top 10%
bronze