May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Phenotype Analysis of Patients With the Risk Variant LOC387715 (A69S) in Age-Related Macular Degeneration
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
Author Affiliations & Notes
  • R. K. Shuler, Jr.
    Ophthalmology, Duke Univ Eye Center, Durham, North Carolina
  • S. Schmidt
    Center for Human Genetics, Duke University, Durham, North Carolina
  • P. Gallins
    Ophthalmology, Duke Univ Eye Center, Durham, North Carolina
  • M. A. Hauser
    Center for Human Genetics, Duke University, Durham, North Carolina
  • W. K. Scott
    Center for Human Genetics, Duke University, Durham, North Carolina
  • J. Caldwell
    Ophthalmology, Duke Univ Eye Center, Durham, North Carolina
  • A. Agarwal
    Ophthalmology, Vanderbilt Eye Institute, Nashville, Tennessee
  • J. L. Haines
    Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee
  • M. A. Pericak-Vance
    Center for Human Genetics, Duke University, Durham, North Carolina
  • E. A. Postel
    Ophthalmology, Duke Univ Eye Center, Durham, North Carolina
  • Footnotes
    Commercial Relationships R.K. Shuler, None; S. Schmidt, None; P. Gallins, None; M.A. Hauser, None; W.K. Scott, None; J. Caldwell, None; A. Agarwal, None; J.L. Haines, None; M.A. Pericak-Vance, None; E.A. Postel, None.
  • Footnotes
    Support NIH Grant U10 EY12118-05
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 5117. doi:
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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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Abstract

Purpose:: To examine phenotypes of age-related macular degeneration (AMD) patients with the significantly associated LOC387715 variant (T allele at rs10490924, A69S).

Methods:: 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.

Results:: 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.

Conclusions:: 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.

Keywords: age-related macular degeneration • genetics 
© 2007, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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