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Updated: Jul 14, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Relationship between single nucleotide polymorphisms of paraoxonase 2 and stroke]
Hong-wei Xu1, Zhen Zhao, Ning Yuan
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Genetic variations in paraoxonase 2 (PON2) were investigated for their association with stroke. The study found no significant correlation between PON2 polymorphisms and stroke risk in the studied Chinese population.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Stroke is a leading cause of death and disability worldwide.
- Paraoxonase 2 (PON2) is an enzyme with potential roles in oxidative stress and inflammation, factors implicated in stroke pathogenesis.
- Single nucleotide polymorphisms (SNPs) in genes like PON2 are potential genetic risk factors for various diseases.
Purpose of the Study:
- To investigate the association between specific single nucleotide polymorphisms (SNPs) of the paraoxonase 2 (PON2) gene and the risk of stroke.
- To determine if PON2 gene polymorphisms (C311S and G148A) are independent risk factors for stroke in the Han Chinese population of the Hunan area.
Main Methods:
- Genotyping of PON2 gene polymorphisms (C311S and G148A) using Polymerase Chain Reaction (PCR) and restriction enzyme digestion.
- Comparative analysis of genotype and allele frequencies between a control group (120 healthy individuals) and stroke patient groups (150 with cerebral hemorrhage, 180 with cerebral infarction).
Main Results:
- The C311S and G148A polymorphisms of the PON2 gene were present in the studied population.
- Allele frequencies for C/S were 0.23/0.77 and for G/A were 0.57/0.43 in the control group.
- No statistically significant differences in genotype or allele frequencies were observed between stroke patients and the control group (P > 0.05).
Conclusions:
- The C311S polymorphism of the PON2 gene shows no significant correlation with stroke in the Han Chinese population of the Hunan area.
- Neither the C/S nor the G/A alleles of the PON2 gene appear to be independent risk factors for stroke in this population.
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