Association between PON1 5′-regulatory region polymorphisms, PON1 activity and ischemic stroke

ObjectivesParaoxonase 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 methodsStudy 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.ResultsAmong 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.ConclusionOur results suggest that haplotypes observed in the PON1 5′-regulatory region should be considered as risk factors for ischemic stroke.