McKay, Gareth J. and Patterson, Chris C. and Chakravarthy, Usha and Dasari, Shilpa and Klaver, Caroline C. and Vingerling, Johannes R. and Ho, Lintje and de Jong, Paulus T. V. M. and Fletcher, Astrid E. and Young, Ian S. and Seland, Johan H. and Rahu, Mati and Soubrane, Gisele and Tomazzoli, Laura and Topouzis, Fotis and Vioque, Jesus and Hingorani, Aroon D. and Sofat, Reecha and Dean, Michael and Sawitzke, Julie and Seddon, Johanna M. and Peter, Inga and Webster, Andrew R. and Moore, Anthony T. and Yates, John R. W. and Cipriani, Valentina and Fritsche, Lars G. and Weber, Bernhard H. F. and Keilhauer, Claudia N. and Lotery, Andrew J. and Ennis, Sarah and Klein, Michael L. and Francis, Peter J. and Stambolian, Dwight and Orlin, Anton and Gorin, Michael B. and Weeks, Daniel E. and Kuo, Chia-Ling and Swaroop, Anand and Othman, Mohammad and Kanda, Atsuhiro and Chen, Wei and Abecasis, Goncalo R. and Wright, Alan F. and Hayward, Caroline and Baird, Paul N. and Guymer, Robyn H. and Attia, John and Thakkinstian, Ammarin and Silvestri, Giuliana (2011) Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies. HUMAN MUTATION, 32 (12). pp. 1407-1416. ISSN 1059-7794,
Full text not available from this repository. (Request a copy)Abstract
Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APOE and sex, and smoking status has been reported. We present a pooled analysis (n = 21,160) demonstrating associations between late AMD and APOe4 (odds ratio [OR] = 0.72 per haplotype; confidence interval [CI]: 0.650.74; P = 4.41 x 10-11) and APOe2 (OR = 1.83 for homozygote carriers; CI: 1.043.23; P = 0.04), following adjustment for age group and sex within each study and smoking status. No evidence of interaction between APOE and sex or smoking was found. Ever smokers had significant increased risk relative to never smokers for both neovascular (OR = 1.54; CI: 1.381.72; P = 2.8 x 10(-15)) and atrophic (OR = 1.38; CI: 1.181.61; P = 3.37 x 10(-5)) AMD but not early AMD (OR = 0.94; CI: 0.861.03; P = 0.16), implicating smoking as a major contributing factor to disease progression from early signs to the visually disabling late forms. Extended haplotype analysis incorporating rs405509 did not identify additional risks beyond e2 and e4 haplotypes. Our expanded analysis substantially improves our understanding of the association between the APOE locus and AMD. It further provides evidence supporting the role of cholesterol modulation, and low-density cholesterol specifically, in AMD disease etiology. 32:14071416, 2011. (C) 2011 Wiley Periodicals, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | COMPLEMENT FACTOR-H; APOLIPOPROTEIN-E GENE; RISK-FACTORS; CIGARETTE-SMOKING; COMPONENT 3; MACULOPATHY; SUSCEPTIBILITY; VARIANT; POLYMORPHISM; PROMOTER; age-related macular degeneration; AMD; apolipoprotein E; APOE; case-control association study |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 26 May 2020 14:20 |
| Last Modified: | 26 May 2020 14:20 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19758 |
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