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Published on: April 4, 2018
Paraoxonase gene polymorphisms and haplotype analysis in a stroke population
Alireza Pasdar1, Helen Ross-Adams, Alastair Cumming
1Department of Medicine and Therapeutics, University of Aberdeen, UK. a.pasdar@abdn.ac.uk
This study found no direct link between paraoxonase gene variations and ischemic stroke risk. However, specific paraoxonase (PON) gene haplotype arrangements showed differences between stroke patients and controls, warranting further investigation.
Area of Science:
- Genetics
- Cardiovascular Disease Research
- Biochemistry
Background:
- Paraoxonase (PON) enzymes possess anti-atherogenic properties by protecting low-density lipoprotein (LDL) from oxidation.
- Genetic variations (polymorphisms) in PON genes may impact atheroma development and stroke risk.
- The three identified PON genes (PON1, PON2, PON3) are located on chromosome 7.
Purpose of the Study:
- To investigate the distribution of paraoxonase gene polymorphisms and haplotype arrangements in Caucasian ischemic stroke patients and controls.
- To determine if specific PON gene variants are associated with an increased risk of ischemic stroke.
Main Methods:
- Genotyping of six common single nucleotide polymorphisms (SNPs) in PON1, PON2, and PON3 genes using Dynamic Allele Specific Hybridisation (DASH).
- Haplotype analysis was performed using PHASE and EHPLUS programs to examine combinations of SNPs.
- Study included 397 Caucasian ischemic stroke patients and 405 healthy controls.
Main Results:
- No significant differences in genotype or allele frequencies of individual PON gene polymorphisms between stroke cases and controls.
- Lipid profiles were not found to be influenced by PON genotype.
- A specific haplotype arrangement (112211) was more frequent in stroke cases (p=0.015), while another (111121) was more common in controls (p=0.006).
Conclusions:
- Individual paraoxonase gene polymorphisms do not appear to play a significant role in the pathogenesis of ischemic stroke.
- Observed differences in paraoxonase gene haplotype frequencies suggest a potential, yet unconfirmed, association with stroke risk.
- Further large-scale studies are recommended to validate these haplotype findings and emphasize the need for validated haplotype analysis tools.
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