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

Research output: Contribution to journal › Article

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. After quality control and prioritization based on allele frequency and damaging probability, individual genotyping of all

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
Publication status	Published - Apr 2019

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All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Medicine
Molecular Biology
Genetics
Oncology
Cancer Research

Cite this

Janicki, P., Eyileten, C., Ruiz-Velasco, V., Pordzik, J., Czlonkowska, A., Kurkowska-Jastrzebska, I., ... Postula, M. (2019). Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke. Molecular medicine reports, 19(4), 3263-3272. https://doi.org/10.3892/mmr.2019.9987

Janicki, Piotr ; Eyileten, Ceren ; Ruiz-Velasco, Victor ; Pordzik, Justyna ; Czlonkowska, Anna ; Kurkowska-Jastrzebska, Iwona ; Sugino, Shigekazu ; Imamura, Yuka ; Mirowska-Guzel, Dagmara ; Postula, Marek. / Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke. In: Molecular medicine reports. 2019 ; Vol. 19, No. 4. pp. 3263-3272.

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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. After quality control and prioritization based on allele frequency and damaging probability, individual genotyping of all",

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Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke. / Janicki, Piotr; Eyileten, Ceren; Ruiz-Velasco, Victor; Pordzik, Justyna; Czlonkowska, Anna; Kurkowska-Jastrzebska, Iwona; Sugino, Shigekazu; Imamura, Yuka; Mirowska-Guzel, Dagmara; Postula, Marek.

In: Molecular medicine reports, Vol. 19, No. 4, 04.2019, p. 3263-3272.

Research output: Contribution to journal › Article

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Access to Document

10.3892/mmr.2019.9987