TY - JOUR
T1 - Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke
AU - Janicki, Piotr K.
AU - Eyileten, Ceren
AU - Ruiz-Velasco, Victor
AU - Pordzik, Justyna
AU - Czlonkowska, Anna
AU - Kurkowska-Jastrzebska, Iwona
AU - Sugino, Shigekazu
AU - Kawasawa, Yuka Imamura
AU - Mirowska-Guzel, Dagmara
AU - Postula, Marek
N1 - Funding Information:
Research subject was implemented with CEPT infrastructure financed by the European Union-the European Regional Development Fund within the Operational Program ‘Innovative economy’ for 2007‑2013. The study was supported financially as part of the research grant from the National Science Center OPUS research grant (grant no. 2013/11/B/NZ7/01541).
Funding Information:
The authors would like to thank Dr Michal Karlinski (Institute of Psychiatry and Neurology, Warsaw, Poland) and Dr Agnieszka Cudna (Center for Preclinical Research and Technology CEPT, Warsaw, Poland) for preparing the samples and database for further analysis. Research subject was implemented with CEPT infrastructure financed by the European Union-the European Regional DevelopmentFundwithintheOperationalProgram‘Innovative economy’ for 2007‑2013. The study was supported financially as part of the research grant from the National Science Center OPUS research grant (grant no. 2013/11/B/NZ7/01541).
Publisher Copyright:
© 2019 Spandidos Publications. All Rights Reserved.
PY - 2019/4
Y1 - 2019/4
N2 - 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.
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.
KW - DNA next-generation sequencing
KW - FLIPR
KW - Genetic polymorphism
KW - Large-vessel ischemic stroke
KW - Platelets
KW - Polish population
KW - Potassium channel
KW - Potassium voltage-gated channel subfamily Q member 1
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U2 - 10.3892/mmr.2019.9987
DO - 10.3892/mmr.2019.9987
M3 - Article
C2 - 30816480
AN - SCOPUS:85062707883
SN - 1791-2997
VL - 19
SP - 3263
EP - 3272
JO - Molecular Medicine Reports
JF - Molecular Medicine Reports
IS - 4
ER -
