Poly (Adenosine Diphosphate Ribose) Polymerase-1 Single Nucleotide Polymorphism In The 3'-Untranslated Region For Ischemic Stroke Risk Reduction

2021 ◽  
Vol 18 ◽  
Author(s):  
Lujun Gu ◽  
Gangtao Xu ◽  
Dinghua Liu
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Ischemic Stroke ◽  
Stroke Risk ◽  
Elevated Serum ◽  
Serum Triglyceride ◽  
Adenosine Diphosphate ◽  
Mrna Levels ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Ischemic Stroke Risk

Objective: To determine the effect of PARP1 polymorphism on gene interactions. Methods: A total of 500 patients and 500 healthy controls were enrolled. Results: Analysis of clinical data showed that patients with stroke, diabetes, hypertension, and elevated serum triglyceride levels had higher levels of alcohol and smoking. The polymorphism of PARP1rs8679 was inversely associated with the risk of ischemic stroke. Patients with PARP1rs8679AG/GG genotypes had a lower incidence of an initial stroke. Compared with the wild genotype, mRNA levels of PARP1 were reduced. MiR-124-5p directly induced PARP1 inhibition through the gain binding ability of 3 'UTR binding. Conclusion: Single nucleotide polymorphism (SNP) rs8679 in PARP13ʹUTR can prevent ischemic stroke.

Association of a single nucleotide polymorphism of the NPR3 gene promoter with early onset ischemic stroke in an Italian cohort

2013 ◽  
Vol 24 (1) ◽  
pp. 80-82 ◽  
Author(s):  
Speranza Rubattu ◽  
Betti Giusti ◽  
Luca Andrea Lotta ◽  
Flora Peyvandi ◽  
Maria Cotugno ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Ischemic Stroke ◽  
Early Onset ◽  
Gene Promoter ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Italian Cohort

scholarly journals Replication of Top Loci From COL4A1/2 Associated With White Matter Hyperintensity Burden in Patients With Ischemic Stroke

Stroke ◽  
2020 ◽  
Vol 51 (12) ◽  
pp. 3751-3755
Author(s):  
Jiang Li ◽  
Vida Abedi ◽  
Ramin Zand ◽  
Christoph J. Griessenauer ◽  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Ischemic Stroke ◽  
Odds Ratio ◽  
Association Studies ◽  
Genome Wide Association ◽  
White Matter Hyperintensity ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genome Wide

Background and Purpose: The purpose of this study was to replicate the top loci associated with white matter hyperintensity (WMH) phenotypes identified by large genome-wide association studies and the loci identified from the previous candidate gene studies. Methods: A total of 946 Geisinger MyCode patients with acute ischemic stroke with validated European ancestry and magnetic resonance imaging data were included in this study. Log-transformed WMH volume, as a quantitative trait, was calculated by a fully automated quantification process. The genome-wide association studies was carried out by a linear mixed regression model (GEMMA). A candidate-single nucleotide polymorphism analysis by including known single nucleotide polymorphisms, reported from a meta-analysis and several large GWAS for WMH, was conducted in all cases and binary converted extreme cases. Results: No genome-wide significantly associated variants were identified. In a candidate-single nucleotide polymorphism study, rs9515201 ( COL4A2 ) and rs3744028 ( TRIM65 ), 2 known genetic loci, showed nominal or trend of association with the WMH volume (β=0.13 and P =0.001 for rs9515201; β=0.094 and P =0.094 for rs3744028), and replicated in a subset of extreme cases versus controls (odds ratio=1.78, P =7.74×10 − 4 for rs9515201; odds ratio=1.53, P =0.047 for rs3744028, respectively). MTHFR677 cytosine/thymine (rs1801133) also showed an association with the binary WMH with odds ratio=1.47 for T allele ( P =0.019). Conclusions: Replication of COL4A1/2 associated with WMH reassures that the genetic risk factors for monogenic and polygenic ischemic stroke are shared at gene level.

scholarly journals Effect of Single Nucleotide Polymorphism rs1044925 in Acyl-CoA: Cholesterol Acyltransferase-1 Gene on Plasma Lipid Parameters in Patients with Ischemic Stroke

2021 ◽  
pp. 41-52
Author(s):  
Johnson Oshiobugie Momoh
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Ischemic Stroke ◽  
Coenzyme A ◽  
Cholesterol Acyltransferase ◽  
Plasma Lipid ◽  
Lipid Profiles ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Acyl Coenzyme A ◽  
Lipid Parameters

Acyl-coenzyme A: cholesterol acyltransferase-1 (ACAT-1) catalyzes the synthesis of cholesteryl esters from cholesterol and fatty acyl-CoA in tissues and the enzyme plays a major role in atherosclerosis and cellular cholesterol homeostasis. The study shows the effect of single nucleotide polymorphism rs1044925 in acyl-CoA:cholesterol acyltransferase-1 gene on plasma lipid parameters in patients with ischemic stroke. 100 patients with ischemic stroke and 100 controls matched for sex and aged 46-87 were selected for the study. Lipid profiles were measured using Randox kits and lipoprotein ratios were calculated using Excel software. The genotyping of the acyl-coenzyme A: cholesterol acyltransferase-1 rs1044925 SNP were performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) combined with 2% gel electrophoresis. There were significant difference (P<0.05) in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and patients with ischemic stroke. The frequencies of AC, CC and AA genotypes of the ACAT-1 gene were 33%, 3% and 64% for the control and 57%, 5% and 38%, for the stroke subjects respectively. The frequencies of C and A alleles were 19.50% and 80.50% for the control and 33.50% and 66.50% for the ischemic stroke subjects (P < 0.0001) respectively. The effects of genotypes on plasma lipid profiles and lipoprotein ratios were found for both control and stroke subjects. The A allele carriers of ACAT-1 rs1044925 SNP had lower plasma TG, TC, VLDL-C and other lipid parameters as compared to the C allele carriers for both subjects. The C allele carriers were responsible for the increase in dyslipidemia for both subjects. The results of this study show that the polymorphism of rs1044925 in the ACAT-1 gene as effect on plasma lipid profiles and lipoprotein ratios in ischemic stroke patients.

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