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

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

doi:10.3892/mmr.2019.9987

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

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

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3 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	3263-3272
Number of pages	10
Journal	Molecular medicine reports
Volume	19
Issue number	4
DOIs	https://doi.org/10.3892/mmr.2019.9987
State	Published - Apr 2019

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Medicine
Molecular Biology
Genetics
Oncology
Cancer Research

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3892/mmr.2019.9987

Cite this

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abstract = "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.",

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AU - Janicki, Piotr

AU - Eyileten, Ceren

AU - Ruiz-Velasco, Victor

AU - Pordzik, Justyna

AU - Czlonkowska, Anna

AU - Kurkowska-Jastrzebska, Iwona

AU - Sugino, Shigekazu

AU - Imamura, Yuka

AU - Mirowska-Guzel, Dagmara

AU - Postula, Marek

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AB - 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.

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

Abstract

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