Closing the case of APOE in multiple sclerosis: No association with disease risk in over 29 000 subjects

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) - , Walter and Eliza Hall Institute of Medical Research (WEHI) (Author)
  • Shu Chen Li - , Max Planck Institute for Human Development (Author)
  • Johannes Gutenberg University Mainz
  • Max Planck Institute for Molecular Genetics
  • Ruhr University Bochum
  • Sorbonne Université
  • Spanish National Research Council (CSIC)
  • Complutense University
  • University of the Basque Country
  • University of Rostock
  • Ludwig Maximilian University of Munich
  • Hospital Universitario Virgen Macarena
  • Hospital de Basurto
  • Max Planck Institute of Psychiatry
  • Max Delbrück Center for Molecular Medicine (MDC)
  • GHU Paris Psychiatrie & Neuro sciences
  • Centre Hospitalier de Versailles
  • Université de Tours
  • Charité – Universitätsmedizin Berlin
  • Karolinska Institutet
  • Free University of Berlin
  • Heinrich Heine University Düsseldorf
  • Ulm University
  • Ikerbasque Basque Foundation for Science
  • Westmead Millennium Institute for Medical Research
  • Griffith University Queensland
  • Gold Coast University Hospital

Abstract

Background: Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods: We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five independent genomewide association studies datasets using the most recent high-resolution reference panels, and extracted genotype data for 8265 subjects from previous candidate gene assessments. Results: Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. This included meta-analyses of the combined data across 13 913 MS cases and 15 831 controls (OR=0.95, p=0.259, and OR 1.07, p=0.0569, for rs429358 and rs7412, respectively). Conclusion: Given the large sample size of our analyses, it is unlikely that the two APOE missense SNPs studied here exert any relevant effects on MS susceptibility.

Details

Original languageEnglish
Pages (from-to)558-562
Number of pages5
JournalJournal of medical genetics
Volume49
Issue number9
Publication statusPublished - 1 Sept 2012
Peer-reviewedYes
Externally publishedYes

External IDs

PubMed 22972946
ORCID /0000-0001-8409-5390/work/142254941

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