TY - JOUR
T1 - Phenotype Analysis of Patients With the Risk Variant LOC387715 (A69S) in Age-related Macular Degeneration
AU - Shuler, R. Keith
AU - Schmidt, Silke
AU - Gallins, Paul
AU - Hauser, Michael A.
AU - Scott, William K.
AU - Caldwell, Jennifer
AU - Agarwal, Anita
AU - Haines, Jonathan L.
AU - Pericak-Vance, Margaret A.
AU - Postel, Eric A.
N1 - Funding Information:
This study was supported by National Institutes of Health and National Eye Institute, Bethesda, Maryland Grant no. U10 EY12118-05. The authors indicate no financial conflict of interest. Involved in design of study (E.A.P., S.S., M.A.P.-V., J.L.H.); conduct of study (R.K.S., S.S., P.G., M.A.H., W.K.S., J.C., A.A., J.L.H., M.A.P.-V., E.A.P.); data analysis and interpretation (P.G., S.S., E.A.P., R.K.S.); drafting manuscript (R.K.S., E.A.P., S.S.); and revising manuscript (R.K.S., S.S., P.G., M.A.H., W.K.S., J.C., A.A., J.L.H., M.A.P.-V., E.A.P.). Information was collected and protected in compliance with Health Insurance Portability and Accountability Act (HIPAA) regulations, Duke University and Vanderbilt University Institutional Review Board (IRB) approval was obtained, and all patients provided informed consent.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2008/2
Y1 - 2008/2
N2 - Purpose: To examine phenotypes of age-related macular degeneration (AMD) patients with the LOC387715 variant (T allele at rs10490924, A69S). Design: Retrospective, observational case series. Methods: This clinic-based case series data set contained 775 unrelated cases of AMD. AMD phenotypes of three groups, determined by the number of LOC387715 risk alleles, were compared regarding the presence or absence of 16 phenotypic features. Results: The number of AMD cases in each group was 164 cases (two risk alleles), 330 cases (one risk allele), and 281 cases (zero risk allele). The mean age at examination for homozygous carriers of the LOC387715 risk allele was significantly lower (73.9 years) than the age for carriers of one (76.4 years) or no (77.1 years) risk allele (P = .0003). Of the 16 features analyzed, only AMD grade (P = .00002) was significantly associated with the LOC387715 variant. As the number of LOC387715 risk alleles increased, the proportion of grade 5 AMD cases increased in a dose-response fashion. Conclusions: The LOC387715 variant appears to be an independent risk factor for grade 5 (neovascular) AMD. This variant may also be associated with an earlier onset of AMD. Phenotypes that suggest a high-risk genotype may prove valuable for diagnostic, therapeutic, and research purposes.
AB - Purpose: To examine phenotypes of age-related macular degeneration (AMD) patients with the LOC387715 variant (T allele at rs10490924, A69S). Design: Retrospective, observational case series. Methods: This clinic-based case series data set contained 775 unrelated cases of AMD. AMD phenotypes of three groups, determined by the number of LOC387715 risk alleles, were compared regarding the presence or absence of 16 phenotypic features. Results: The number of AMD cases in each group was 164 cases (two risk alleles), 330 cases (one risk allele), and 281 cases (zero risk allele). The mean age at examination for homozygous carriers of the LOC387715 risk allele was significantly lower (73.9 years) than the age for carriers of one (76.4 years) or no (77.1 years) risk allele (P = .0003). Of the 16 features analyzed, only AMD grade (P = .00002) was significantly associated with the LOC387715 variant. As the number of LOC387715 risk alleles increased, the proportion of grade 5 AMD cases increased in a dose-response fashion. Conclusions: The LOC387715 variant appears to be an independent risk factor for grade 5 (neovascular) AMD. This variant may also be associated with an earlier onset of AMD. Phenotypes that suggest a high-risk genotype may prove valuable for diagnostic, therapeutic, and research purposes.
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U2 - 10.1016/j.ajo.2007.09.027
DO - 10.1016/j.ajo.2007.09.027
M3 - Article
C2 - 18061132
AN - SCOPUS:38349178812
VL - 145
SP - 303-307.e1
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 2
ER -