Browsing by Author "Johanna M. Seddon"

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    The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis
    (2012-09-01) Ammarin Thakkinstian; Mark McEvoy; Usha Chakravarthy; Subhabrata Chakrabarti; Gareth J. McKay; Euijung Ryu; Giuliana Silvestri; Inderjeet Kaur; Peter Francis; Takeshi Iwata; Masakazu Akahori; Astrid Arning; Albert O. Edwards; Johanna M. Seddon; John Attia; Mahidol University; University of Newcastle, Australia; Queen's University Belfast; L.V. Prasad Eye Institute India; Mayo Clinic; OHSU School of Medicine; National Hospital Organization, Japan; Leibniz Institute of Arteriosclerosis Research; University of Oregon; Tufts University School of Medicine; John Hunter Hospital
    The authors performed a systematic review of the association of complement component 2(C2)/complement factor B (CFB) gene polymorphisms with age-related macular degeneration (AMD). In total, data from 19 studies published between 2006 and 2011 were pooled for 4 polymorphisms: rs9332739 and rs547154 in the C2 gene and rs4151667 and rs641153 in the CFB gene. Data extraction and assessments for risk of bias were independently performed by 2 reviewers. Allele frequencies and allele and genotypic effects were pooled. Heterogeneity and publication bias were explored. Pooled minor allele frequencies for all 4 SNPs were between 4.7 and 9.6 for all polymorphisms, except for an Indian population in which the C allele at rs9332739 was the major allele. For the C2 polymorphisms, the minor C allele at rs9332739 and the minor T allele at rs547154 carried estimated relative risks (odds ratios) of 0.55 (95 confidence interval (CI): 0.46, 0.65) and 0.47 (95 CI: 0.39, 0.57), respectively. For the CFB polymorphisms, the minor A alleles at rs4151667 and rs614153 carried estimated risks of 0.54 (95 CI: 0.45, 0.64) and 0.41 (95 CI: 0.34, 0.51), respectively. These allele effects contributed to an absolute lowering of the risk of all AMD in Caucasian populations by 2.06.0. This meta-analysis provides a robust estimate of the protective association of C2/CFB with AMD. © 2012 The Author.
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    Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies
    (2011-12-01) Gareth J. Mckay; Chris C. Patterson; Usha Chakravarthy; Shilpa Dasari; Caroline C. Klaver; Johannes R. Vingerling; Lintje Ho; Paulus T.V.M. de Jong; Astrid E. Fletcher; Ian S. Young; Johan H. Seland; Mati Rahu; Gisele Soubrane; Laura Tomazzoli; Fotis Topouzis; Jesus Vioque; Aroon D. Hingorani; Reecha Sofat; Michael Dean; Julie Sawitzke; Johanna M. Seddon; Inga Peter; Andrew R. Webster; Anthony T. Moore; John R.W. Yates; Valentina Cipriani; Lars G. Fritsche; Bernhard H.F. Weber; Claudia N. Keilhauer; Andrew J. Lotery; Sarah Ennis; Michael L. Klein; Peter J. Francis; Dwight Stambolian; Anton Orlin; Michael B. Gorin; Daniel E. Weeks; Chia Ling Kuo; Anand Swaroop; Mohammad Othman; Atsuhiro Kanda; Wei Chen; Goncalo R. Abecasis; Alan F. Wright; Caroline Hayward; Paul N. Baird; Robyn H. Guymer; John Attia; Ammarin Thakkinstian; Giuliana Silvestri; Queen's University Belfast; Erasmus University Medical Center; Netherlands Institute for Neuroscience NIN - KNAW; Academic Medical Centre, University of Amsterdam; London School of Hygiene & Tropical Medicine; Stavanger University Hospital; Tervise Arengu Instituut; Universitaire de Creteil; Clinica Oculistica; Aristotle University of Thessaloniki; Universidad Miguel Hernandez de Elche; CIBERESP; UCL; National Cancer Institute at Frederick; Tufts University School of Medicine; Tufts Medical Center; Icahn School of Medicine at Mount Sinai; UCL Institute of Ophthalmology; Moorfields Eye Hospital NHS Foundation Trust; University of Cambridge; Universitat Regensburg; Universitatsklinikum Wurzburg; University of Southampton; Southampton General Hospital; OHSU School of Medicine; University of Pennsylvania; David Geffen School of Medicine at UCLA; University of Pittsburgh Graduate School of Public Health; The University of the Michigan Kellogg Eye Center; National Eye Institute; University of Michigan School of Public Health; Western General Hospital; University of Melbourne; University of Newcastle, Australia; John Hunter Hospital; Mahidol University
    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 APOε4 (odds ratio [OR] = 0.72 per haplotype; confidence interval [CI] : 0.65-0.74; P = 4.41×10 -11 ) and APOε2 (OR = 1.83 for homozygote carriers; CI: 1.04-3.23; 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: 1.38-1.72; P = 2.8×10 -15 ) and atrophic (OR = 1.38; CI: 1.18-1.61; P = 3.37×10 -5 ) AMD but not early AMD (OR = 0.94; CI: 0.86-1.03; 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 ε2 and ε4 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. © 2011 Wiley Periodicals, Inc.