Analysis on the Polymorphism of Chromosome Region 9p21 and the Susceptibility of Carotid Plaque

Abstract

Background: Atherosclerosis is a complicated disease governed by genetic, environmental and vascular risk factors, while its relationship with specific genes is still unclear. In recent days, it has been discovered that the single-nucleotide polymorphisms of chromosomal region 9p21 were relevant with the genetic susceptibility of Atherosclerosis. We aimed to figure out the relativity between the gene polymorphism of region 9p21 (rs10757274, rs7044859, rs4977574 and rs496892) and carotid plaque. Methods: With polymerase chain reaction-ligase detection reaction, the gene polymorphisms of site rs10757274, rs7044859, rs4977574 and rs496892 in chromosome region 9p21 were analyzed in 764 non-cardiac cerebral infarction (CI) patients (406 with carotid plaque while 358 without). Results: Among the population aged between 45 and 65, compared to patients without carotid plaque, no significant difference were observed on the genotype or allele frequencies distribution in 9p21 genes including rs10757274, rs7044859, rs4977574 and rs496892 in the patients with carotid plaque. There existed strong linkage disequilibrium not only between rs10757274 and rs4977574 but also between rs7044859 and rs496892 as well. Conclusion: In Chinese Han CI population, there was no significant relevance between the polymorphisms of site rs10757274, rs7044859, rs4977574 and rs496892 in region 9p21 and the susceptibility of carotid plaque.

The Association of SNPs Located in the CDKN2B-AS1 and LPA Genes With Carotid Artery Stenosis and Atherogenic Stroke

“…We decided to assess the association of atherosclerotic carotid artery stenosis and atherogenic stroke/TIA with four polymorphic variants of the CDKN2B-AS1 and LPA genes. Our selection of genes for the study in a Polish subpopulation was guided by the literature overview and previous studies performed on the atherosclerotic patient populations (1, 14–20). We included patients with atherogenic stroke/TIA (a clinical manifestation of atherosclerosis of the arteries) and individuals with a hemodynamically significant stenosis of the artery without brain damage in order to determine if there are differences in the genetic variants in these two groups of patients.…”

“…The basic method to assess the genetic factors for diseases is to evaluate the relationship between a disease entity and polymorphic gene variants, mainly single-nucleotide polymorphisms (SNPs). Previous studies on the link between specific genes and stroke demonstrated inconsistent results (1–3). Racial/ethnic differences in study subpopulations, differences in the protocol, and small research groups could have all contributed to those discrepancies.…”

“…The aim of this project was to assess the prevalence of four selected SNPs in the subpopulation of patients with symptomatic (stroke, transient ischemic attack; TIA) and non-symptomatic atherosclerotic carotid stenosis. According to the available literature overview in the study, the rs4977574 and rs7857345 polymorphisms located in the CDKN2B-AS1 gene as well as the rs3798220 and rs10455872 polymorphisms located in the LPA gene were selected (1, 14–20). An additional aim was to assess the co-occurrence of the abovementioned SNPs with other conditions/diseases recognized as traditional risk factors for stroke.…”