Objectives: Paraoxonase I (PON1) was known as a risk factor for cerebrovascular diseases. This study assessed the association of single nucleotide polymorphisms (SNPs) in the PON1 5'-regulatory region with ischemic stroke and serum PON1 activity.
Design and methods: Study subjects consisted of 418 healthy controls and 86 ischemic stroke patients with small vessel occlusion. SNPs were identified by DNA sequencing and a primer extension-based method.
Results: Among 10 identified SNPs, only -1434GG genotype was observed with a lower frequency in patients on borderline statistical significance (OR(95% CI), 0.297(0.083-1.060), p=0.0615). However, haplotype analysis in a dominant model revealed that ht2 was observed with a significantly lower frequency in patients (OR(95% CI), 0.390(0.153-0.991), p=0.0477). Both C(-1434)G mutation and ht2 distribution were associated with serum PON1 activity.
Conclusion: Our results suggest that haplotypes observed in the PON1 5'-regulatory region should be considered as risk factors for ischemic stroke.