Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke

Piotr K. Janicki, Ceren Eyileten, Victor Ruiz-Velasco, Justyna Pordzik, Anna Czlonkowska, Iwona Kurkowska-Jastrzebska, Shigekazu Sugino, Yuka Imamura Kawasawa, Dagmara Mirowska-Guzel, Marek Postula

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


The impact of rare and damaging variants in genes associated with platelet function in large-vessel ischemic stroke (LVIS) remains unknown. The aim of this study was to investigate the contribution of some of these variants to the genetic susceptibility to LVIS in Polish patients using a deep re-sequencing of 54 selected genes, coding for proteins associated with altered platelet function. Targeted pooled re-sequencing (Illumina HiSeq 2500) was performed on genomic DNA of 500 cases (patients with history of clinically proven diagnosis of LVIS) and 500 age-, smoking status-, and sex-matched controls (no history of any type of stroke), and from the same population as patients with LVIS. After quality control and prioritization based on allele frequency and damaging probability, individual genotyping of all

Original languageEnglish
Pages (from-to)3263-3272
Number of pages10
JournalMolecular medicine reports
Issue number4
Publication statusPublished - 2019 Apr
Externally publishedYes


  • DNA next-generation sequencing
  • Genetic polymorphism
  • Large-vessel ischemic stroke
  • Platelets
  • Polish population
  • Potassium channel
  • Potassium voltage-gated channel subfamily Q member 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Oncology
  • Cancer Research


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