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 | |
| State | Published - Apr 1 2019 |
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All Science Journal Classification (ASJC) codes
- Biochemistry
- Molecular Medicine
- Molecular Biology
- Genetics
- Oncology
- Cancer Research
Cite this
}
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, 01.04.2019, p. 3263-3272.Research output: Contribution to journal › Article
TY - JOUR
T1 - Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke
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
PY - 2019/4/1
Y1 - 2019/4/1
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. After quality control and prioritization based on allele frequency and damaging probability, individual genotyping of all
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. After quality control and prioritization based on allele frequency and damaging probability, individual genotyping of all
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U2 - 10.3892/mmr.2019.9987
DO - 10.3892/mmr.2019.9987
M3 - Article
VL - 19
SP - 3263
EP - 3272
JO - Molecular Medicine Reports
JF - Molecular Medicine Reports
SN - 1791-2997
IS - 4
ER -