May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Polymorphic associations of genes with age–related macular degeneration
Author Affiliations & Notes
  • D. Chen
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • S. Dubovy
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • I. Scott
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • M. Lewis
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • G. Inana
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • Footnotes
    Commercial Relationships  D. Chen, None; S. Dubovy, None; I. Scott, None; M. Lewis, None; G. Inana, None.
  • Footnotes
    Support  Foundation Fighting Blindness, Research to Prevent Blindness
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 1838. doi:
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      D. Chen, S. Dubovy, I. Scott, M. Lewis, G. Inana; Polymorphic associations of genes with age–related macular degeneration . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1838.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: Age–related macular degeneration is the leading cause of blindness in people over 50 years old. AMD is thought to be a complex disease, and changes in multiple genes likely contribute to an individual’s susceptibility. Several genes ( ABCR, Allikmets et al, 2000; CST3, Zurdel et al, 2002; PON, Ikeda et al, 2001; SOD, Kimura et al, 2000) have been reported to show polymorphisms that associate with AMD, and thus may have a role in AMD. The purpose of our study was to confirm these genes’ associations with AMD. Methods: The presence of polymorphisms in genes was determined through PCR amplification, heteroduplex or restriction digestion analysis, and DNA sequencing. 95 AMD patients and 36 control subjects were screened. For ABCR, exon 42 and exon 48 polymorphisms were screened by heteroduplex analysis. For the other genes, restriction digestion of the PCR products with the following enzymes were used: KSP I for CST3 BB, Nla III for PON55 LL, ALW I for PON192 BB and BSA WI for SOD Ala/Ala. Results: The ABCR polymorphisms of G1961E and D2177N were found in 2.1% patients and 5.6% of control subjects, compared to the reported 3.4% and 0.95% , respectively. The CST3 BB genotype was found in 5.4%of patients and none of control subjects, compared to the reported 6.6% and 2.3% ,respectively. The PON55 LL genotype was found in 52.2% of patients and 36.8% of control subjects, compared to the reported 91.7% and 77.1%, respectively. The PON 192 BB genotype was found in 8.5% of patients and 12.8% of control subjects, compared to the reported 52.8% and 35%, respectively. The SOD Ala/Ala genotype was found in 25.8% of patients and 21.1% of control subjects, compared to the reported 9.1% vs 1.0%, respectively. Conclusion: Our results suggest that CST3 and PON55 may be showing association of polymorphisms with AMD as reported. Further screening, which is ongoing, is necessary to confirm these associations. CR: None Support: Foundation Fighting Blindness, Research to Prevent Blindness

Keywords: age–related macular degeneration • gene screening • mutations 
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