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Olle Melander

Principal investigator

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Exome array analysis of ischaemic stroke : results from a southern Swedish study


  • M Söderholm
  • P Almgren
  • K Jood
  • T M Stanne
  • Mats Olsson
  • A Ilinca
  • E Lorentzen
  • B Norrving
  • G Engström
  • O Melander
  • C Jern
  • Arne Lindgren

Summary, in English

BACKGROUND AND PURPOSE: Genome-wide association (GWA) studies have identified a few risk loci for ischaemic stroke, but these variants explain only a small part of the genetic contribution to the disease. Coding variants associated with amino acid substitutions or premature termination of protein synthesis could have a large effect on disease risk. We performed an exome array analysis for ischaemic stroke.

METHODS: Patients with ischaemic stroke (n = 2385) and control subjects (n = 6077) from three Swedish studies were genotyped with the Illumina HumanOmniExpressExome BeadChip. Single-variant association analysis and gene-based tests were performed of exome variants with minor allele frequency of < 5%. A separate GWA analysis was also performed, based on 700 000 genotyped common markers and subsequent imputation.

RESULTS: No exome variant or gene was significantly associated with all ischaemic stroke after Bonferroni correction (all P > 1.8 × 10(-6) for single-variant and >4.15 × 10(-6) for gene-based analysis). The strongest association in single-variant analysis was found for a missense variant in the DNAH11 gene (rs143362381; P = 5.01 × 10(-6) ). In gene-based tests, the strongest association was for the ZBTB20 gene (P = 7.9 × 10(-5) ). The GWA analysis showed that the sample was homogenous (median genomic inflation factor = 1.006). No genome-wide significant association with overall ischaemic stroke risk was found. However, previously reported associations for the PITX2 and ZFHX3 gene loci with cardioembolic stroke subtype were replicated (P = 7 × 10(-15) and 6 × 10(-3) ).

CONCLUSIONS: This exome array analysis did not identify any single variants or genes reaching the pre-defined significance level for association with ischaemic stroke. Further studies on exome variants should be performed in even larger, well-defined and subtyped samples.


  • Cardiovascular Research - Epidemiology
  • Genomics, Diabetes and Endocrinology
  • Neurology, Lund
  • Cardiovascular Research - Hypertension
  • Clinical Stroke Research Group
  • EXODIAB: Excellence in Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health

Publishing year







European Journal of Neurology





Document type

Journal article




  • Neurosciences


  • stroke
  • exome array



Research group

  • Cardiovascular Research - Epidemiology
  • Genomics, Diabetes and Endocrinology
  • Cardiovascular Research - Hypertension
  • Clinical Stroke Research Group


  • ISSN: 1351-5101