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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Neurol. | doi: 10.3389/fneur.2019.01170

The association of SNPs located in the CDKN2B-AS1 and LPA genes with carotid artery stenosis and atherogenic stroke

 Anetta Lasek-Bal1*, Dorota Kula2, Tomasz Urbanek1, Przemysław Puz1, Jan Szymszal3, Michał Jarząb2, Monika Kowal2, Renata Cyplińska2, Wiesław Bal2, Beata Łabuz-Roszak1, Aleksandra Cieślik1, Ilona Jasnos1,  Barbara M. Jarzab2 and Damian Ziaja1
  • 1Medical University of Silesia, Poland
  • 2Maria Sklodowska Curie Memorial Institute, Gliwice Branch, Poland
  • 3Silesian University of Technology, Poland

The aim of this project was to assess the prevalence of four selected SNPs rs4977574 and rs7857345 (CDKN2B-AS1 gene) and rs3798220 and rs10455872 polymorphisms (the LPA gene) in the subpopulation of patients with symptomatic and asymptomatic carotid stenosis.

Material and Methods
This study included 623 individuals (244 patients with symptomatic carotid artery stenosis, 176 patients with asymptomatic carotid artery stenosis and 203 healthy people. All the participants underwent neurological examination, duplex Doppler ultrasound examination and molecular procedures.
In the first part of the analysis the assiociation of SNPs with stroke/TIA was investigated. The association was seen in symptomatic vs control group for two SNPs: rs4977574 and rs7857345 (CDKN2B-AS1 gene); genotype distributions for rs4977574 and rs7857345 showed the statistically significant differences between patients and controls (p=0.043 and 0.017, respectively). No association was observed for rs3798220 and rs10455872 located in the LPA gene. There were statistically significant differences between asymptomatic patients vs control group in genotype distribution for the SNPs located in CDKN2B-AS1: rs4977574 and rs7857345 (p=0.031 and 0.0099, respectively); and for the rs3798220 (LPA gene; p=0.003); however, statistically significant differences did not occur for the rs10455872 polymorphism located in the LPA gene. In the next part of the evaluation, a comparison between symptomatic and asymptomatic patients was performed. Significant differences in genotype distribution were seen only for the rs3798220 polymorphism located in the LPA gene (p=0.0015). The analysis of the prevalence of the polymorphisms in the total group (symptomatic and asymptomatic) patients in comparison with the control group showed significant differences for three polymorphisms: rs4977574 and rs7857345 (CDKN2B-AS1 gene; p=0.015 and 0.0046, respectively) and rs3798220 (LPA gene, p=0.044).

The present research on the carotid artery stenosis patient cohort suggests the significant association between the rs4977574, rs7857345 and rs3798220 polymorphisms and carotid artery stenosis as well as between the rs4977574 and rs7857345 polymorphisms and atherogenic stroke.
The rs4977574 and rs7857345 polymorphisms in patients with carotid artery stenosis appear to affect a person's susceptibility to atherogenic brain ischemia.
Our results need to be replicated in future studies.

Keywords: Stroke, CDKN2B GENE, LPA gene, atheroclerosis, polymorphism

Received: 01 Aug 2019; Accepted: 21 Oct 2019.

Copyright: © 2019 Lasek-Bal, Kula, Urbanek, Puz, Szymszal, Jarząb, Kowal, Cyplińska, Bal, Łabuz-Roszak, Cieślik, Jasnos, Jarzab and Ziaja. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Anetta Lasek-Bal, Medical University of Silesia, Katowice, 40-055, Silesian, Poland,