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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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The single nucleotide polymorphism rs2208454 confers an increased risk for ischemic stroke: a case-control study
Man Luo1, Jiao-Xing Li, Xun-Sha Sun
1Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.
CNS Neuroscience & Therapeutics
|June 24, 2014
Summary
The single nucleotide polymorphism (SNP) rs2208454 increases ischemic stroke (IS) risk in the southern Chinese Han population. This genetic risk is specifically linked to large artery atherosclerosis, a major IS subtype.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Background:
- A prior genome-wide association study linked covert magnetic resonance imaging infarcts to single nucleotide polymorphism (SNP) rs2208454.
- Ischemic stroke (IS) poses a significant global health burden, necessitating identification of genetic risk factors.
Purpose of the Study:
- To investigate the association between the rs2208454 polymorphism and the risk of ischemic stroke (IS).
- To determine if rs2208454 is a risk factor for IS in a southern Chinese Han population.
Main Methods:
- Case-control study design including 712 IS patients and 774 controls from a southern Chinese Han population.
- Genotyping was performed using the snapshot technique.
- Statistical analysis included logistic regression adjusted for age, gender, and relevant medical histories.
Main Results:
- The TT genotype of SNP rs2208454 was significantly more frequent in IS patients compared to controls (p < 0.05).
- Adjusted analysis confirmed a persistent association between the TT genotype and IS risk (OR = 1.79-1.88).
- Subgroup analysis revealed a significant association of SNP rs2208454 with large artery atherosclerosis (LAA) IS subtype (OR = 2.16).
Conclusions:
- The rs2208454 polymorphism is a significant risk factor for ischemic stroke in the southern Chinese Han population.
- The genetic risk conferred by rs2208454 is primarily associated with the large artery atherosclerosis subtype of IS.
Keywords:
Ischemic strokeLarge artery atherosclerosisSingle nucleotide polymorphismStroke subtypers2208454
