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R. K. Shuler, Jr., S. Schmidt, P. Gallins, M. A. Hauser, W. K. Scott, J. Caldwell, A. Agarwal, J. L. Haines, M. A. Pericak-Vance, E. A. Postel; Phenotype Analysis of Patients With the Risk Variant LOC387715 (A69S) in Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5117.
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To examine phenotypes of age-related macular degeneration (AMD) patients with the significantly associated LOC387715 variant (T allele at rs10490924, A69S).
The clinic-based case series data set contained 775 unrelated cases of AMD. AMD phenotypes of carriers of the LOC387715 variant (164 cases with 2 risk alleles and 330 cases with 1 risk allele) were compared to 281 non-carriers with 0 risk alleles for association with any of 16 phenotypic features.
The mean age at examination for homozygous carriers of the LOC387715 variant was significantly lower (P-value 0.0003) than AMD cases possessing one or no risk alleles. Of the 16 features analyzed, only AMD grade (P-value 0.00002) demonstrated a statistically significant association with the number of LOC387715 variant alleles.
The LOC387715 variant appears to be associated with earlier-onset and grade 5 (neovascular) AMD. Further genotype-phenotype characterization may prove valuable for diagnostic, therapeutic, and research purposes.
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