April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
LIPC Is A Possible Heritability Factor For Advanced Age-related Macular Degeneration
Guy A. Hughes; Jiexi Zeng; Kevin Wang; Matthew Bedell; Henry Ferreyra; Mark Nelson; William Freeman; Igor Kozak; Yuhong Chen; Kang Zhang
Author Affiliations & Notes
  • Guy A. Hughes
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Jiexi Zeng
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
    Ophthalmology, Xiangya Hospital, Central South University Changsha, Hunan, China
  • Kevin Wang
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Matthew Bedell
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Henry Ferreyra
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Mark Nelson
    RetinaNet Corporation, Winston Salem, North Carolina
  • William Freeman
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Igor Kozak
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Yuhong Chen
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
    Ophthalmology & Visual Sciences, Eye and ENT Hospital, Shanghai Medical School, Fudan University, Shanghai, China
  • Kang Zhang
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
    Ophthalmology & Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah
  • Footnotes
    Commercial Relationships  Guy A. Hughes, None; Jiexi Zeng, None; Kevin Wang, None; Matthew Bedell, None; Henry Ferreyra, None; Mark Nelson, None; William Freeman, None; Igor Kozak, None; Yuhong Chen, None; Kang Zhang, None
  • Footnotes
    Support  RPB Burroughs Wellcome Fund RO1EY14428, RO1EY14448, RO1EY18660, Transformative RO1EY021374-01
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5263. doi:
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      Guy A. Hughes, Jiexi Zeng, Kevin Wang, Matthew Bedell, Henry Ferreyra, Mark Nelson, William Freeman, Igor Kozak, Yuhong Chen, Kang Zhang; LIPC Is A Possible Heritability Factor For Advanced Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5263.

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Abstract

Purpose: : Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in the Western world. It has been estimated that previously discovered CFH, C3, C2/CFB and HTRA1 regions can explain only approximately half of the heritability. In this study, we investigated the association between the hepatic lipase gene (LIPC) and AMD in a Caucasian cohort.

Methods: : 3 single nucleotide polymorphisms (SNPs), rs6083, rs10468017, and rs493258, at the locus of LIPC were chosen for the study. 647 patients with advanced AMD and 370 normal controls were genotyped. Chi square test was performed to compare the allele frequency between cases and controls. The findings were tested for replication in an independent 611 AMD patients and 273 controls.

Results: : rs493258, in the promoter region of LIPC was found associated with advanced AMD (p=0.04) in our first Caucasian cohort. The association was successfully replicated (p= 0.027) in the second independent cohort. When combined, there is an increase in association signals (p=2.78E-03) even after Bonferroni correction, with the similar risk to both GA (p=6.62E-03) and wet AMD (p=0.01). However, other SNPs in this locus did not show any association with advanced AMD.

Conclusions: : The SNP, rs493258, in the promoter region of LIPC confers the similar risk in both cohorts of Caucasians with advanced AMD. Understanding the underlying molecular mechanism and the connections among all these discovered loci will provide important insight into the pathogenesis of AMD.

Keywords: age-related macular degeneration • genetics 
© 2011, 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 © 2023 Association for Research in Vision and Ophthalmology.
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