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Research Article

A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy

Silke Schmidt Center for Human Genetics, Department of Medicine

Caroline C. W. Klaver Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA; Departments of Epidemiology and Biostatistics and Ophthalmology, Erasmus University, Rotterdam, and The Netherlands Ophthalmic Research Institute and Academic Medical Center, Amsterdam, The Netherlands

Ann M. Saunders Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Eric A. Postel Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Monica A. De La Paz Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Anita Agarwal Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Kent W. Small Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Nitin Udar Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

John M. Ong Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Meenal V. Chalukya Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Anthony Nesburn Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

M. Cristina Kenney Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Ruth M. Domurath Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Molly Hogan Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Tammy S. Mah Department of Ophthalmology, University of Pittsburgh School of Medicine and Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA

Yvette P. Conley Department of Ophthalmology, University of Pittsburgh School of Medicine and Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA

Robert E. Ferrell Department of Ophthalmology, University of Pittsburgh School of Medicine and Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA

Daniel E. Weeks Department of Ophthalmology, University of Pittsburgh School of Medicine and Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA

Paulus T.V.M. de Jong Departments of Epidemiology and Biostatistics and Ophthalmology, Erasmus University, Rotterdam, and The Netherlands Ophthalmic Research Institute and Academic Medical Center, Amsterdam, The Netherlands

Cornelia M. van Duijn Departments of Epidemiology and Biostatistics and Ophthalmology, Erasmus University, Rotterdam, and The Netherlands Ophthalmic Research Institute and Academic Medical Center, Amsterdam, The Netherlands

Jonathan L. Haines Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

Margaret A. Pericak-Vance Center for Human Genetics, Department of Medicine

Michael B. Gorin Department of Ophthalmology, University of Pittsburgh School of Medicine and Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA; Department of Neurology, and Duke Eye Center, Duke University Medical Center, Durham, NC, Department of Ophthalmology and Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN, The Jules Stein Eye Institute, University of California, and Department of Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA

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Abstract

Age-related maculopathy (ARM) is a multifactorial disorder known to have a substantial genetic component. The e4 allele of the apolipoprotein E gene (APOE-4) has previously been reported to have a protective effect on ARM risk, while the APOE-2 allele may increase disease risk. This study combined four independent data sets (three US and one European) of Caucasian ARM patients and controls in order to obtain better statistical power to examine the role of APOE in ARM. APOE genotype and allele frequencies were compared for 617 ARM cases and 1260 controls, adjusting for age and sex differences between the two groups via multiple logistic regression. The protective effect of the APOE-4 allele on ARM risk was confirmed (age- and sex-adjusted odds ratio (OR) for APOE-4 carriers 0.54, 95% confidence interval (CI) 0.41–0.70, p < 0.0001). The effect of APOE-4 did not differ significantly between males and females and was observed consistently for both atrophic and neovascular ARM. Evidence for an increased risk of ARM due to the APOE-2 allele was found for men, but not for women (OR for men 1.54, 95% CI 0.97–2.45; OR for women 0.74, 95% CI 0.52–1.06, p = 0.01 for interaction of sex and APOE-2 carrier status). These data confirm that the APOE-4 allele, or an allele in linkage disequilibrium with it, reduces the risk of ARM. They also suggest that the effect of the APOE-2 allele may vary by gender, and that APOE-2 may confer an increased risk only to males.

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A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy

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A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy

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