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

Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke. Mol Med Rep. 2019 Feb 25;: Authors: Janicki PK, Eyileten C, Ruiz-Velasco V, Pordzik J, Czlonkowska A, Kurkowska-Jastrzebska I, Sugino S, Imamura Kawasawa Y, Mirowska-Guzel D, Postula M 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 deleterious rare variants was performed in patients from the original cohort, and stratified to concomitant cardiac conditions differing between the study and stroke groups. We demonstrated a statistically significant increase in the number of rare and potentially damaging variants in some of the investigated genes ...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research