May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Comparison of Apolipoprotein E Genotypes in Rapanui and Caucasian Populations Support a potential Role for this Gene in the Susceptibility Toward Age–related macular degeneration
Author Affiliations & Notes
  • Q. Lu
    Ophthalmology and Visual Sciences, University of Iowa Center for Macular Degeneration, Iowa City, IA
  • L. Hancox
    Ophthalmology and Visual Sciences, University of Iowa Center for Macular Degeneration, Iowa City, IA
  • S.R. Russell
    Ophthalmology and Visual Sciences, University of Iowa Center for Macular Degeneration, Iowa City, IA
  • R. Stevenson
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • M. Campos
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • R. Pincheira
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • M. Hernandez
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • C. Araneda
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • P. Meza
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • A. Ormeno
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • R. Poblete
    Sociedad Chilena de Oftalmologia, Santiago Casilla 16197, Chile
  • G.S. Hageman
    Ophthalmology and Visual Sciences, University of Iowa Center for Macular Degeneration, Iowa City, IA
  • Footnotes
    Commercial Relationships  Q. Lu, None; L. Hancox, None; S.R. Russell, None; R. Stevenson, None; M. Campos, None; R. Pincheira, None; M. Hernandez, None; C. Araneda, None; P. Meza, None; A. Ormeno, None; R. Poblete, None; G.S. Hageman, None.
  • Footnotes
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Investigative Ophthalmology & Visual Science May 2004, Vol.45, 1835. doi:
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      Q. Lu, L. Hancox, S.R. Russell, R. Stevenson, M. Campos, R. Pincheira, M. Hernandez, C. Araneda, P. Meza, A. Ormeno, R. Poblete, G.S. Hageman; Comparison of Apolipoprotein E Genotypes in Rapanui and Caucasian Populations Support a potential Role for this Gene in the Susceptibility Toward Age–related macular degeneration . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1835.

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

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Abstract

Abstract: : Purpose:Recent data suggest that the apolipoprotein E gene (APOE) may be a susceptibility gene for age–related macular degeneration (AMD) in Caucasian populations. A decreased risk of AMD was shown to be associated with the E*4 allele and a slight increased risk with the E*2 allele. This study was conducted to compare APOE genotypes in the Caucasian population to those of the Rapinui, an isolated population without any appreciable AMD. Methods: DNA was collected from 414 Iowans with clinically documented AMD, 127 age–matched Iowan Caucasians without AMD, and 118 Rapinui from Isla de Pasqua, all over the age of 60. APOE genotypes were determined by HhaI digestion of PCR–amplified products. Data pertaining to APOE genotypes in six additional Caucasian populations were collected from the literature. Results: Compared with the Iowan age–matched controls (14.2%), the E*4 allele frequency was not significantly lower in the Iowan AMD patients (9.9% ) (P=0.06; OR=0.66; 95% CI: 0.44–1.01 ),but there was a trend toward difference. The E*2 allele frequency in the Iowan AMD patients (9.4%) was similar to that observed in controls (8.0%). Both the E*4 allele (29%) and the E*4 carrier (53%) frequencies in the Rapanui population were significantly higher (P<0.0001 for both) than in all Caucasian populations, including the Iowa population (9.9–19.4% and 19.2% to 35.6%, respectively). The E*3 allele frequency amongst Caucasians (75.3–82.7%) was significantly higher than in the Rapanui (64.8%; P<0.001). The E3E3 genotype frequency in the Rapanui was significantly lower (39%), compared to 55.5–68.4% amongst the Caucasian populations (p<0.001) and the E3E4 genotype was significantly lower in Caucasians (1.5–25.2%) than in the Rapanui (43.2%; P<0.008). The E*2 allele and genotype frequencies did not differ significantly between Rapanui and Caucasians. Conclusion:APOE genotype analyses of the Rapinui, which does not appear to manifest AMD based upon extensive ophthalmic examination, as compared to the Caucasian population, support the concept that the E*4 allele may be a protective factor for AMD, but they do not support the concept that the E*2 allele is an increased risk factor for this condition. The E3E3 genotype may also be associated with the pathobiology of AMD.

Keywords: age–related macular degeneration • genetics 
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