engleski

Q192R and L55M pon1 gene polymorphisms associated with peripheral arterial disease

Background. Development of peripheral arterial disease (PAD) could be due to human serum paraoxonase (pon1) gene polymorphisms or lower catalytic concentrations of serum paraoxonase-1 (PON1). The aim of study was to examine the association of pon1 gene polymorphisms (Q192R and L55M) with the catalytic concentrations of serum PON1 in patients with PAD. Materials and methods. Healthy subjects (118) and patients with angiographically confirmed diagnosis of PAD (110) were investigated. The catalytic concentration of serum PON1 was determined by spectrophotometric method using paraoxon as the supstrate in the presence of NaCl. pon1 gene polymorphisms were determined by PCR-RFLP method accredited according to ISO15189. The assay performance was assessed by interlaboratory specimens exchange. Allele and genotype frequencies were compared by the χ2 or Fisher exact test. Results. For pon1 gene polymorphism Q192R allele and genotype frequency were significantly different betweeen patients with PAD and healthy subjects (both <0, 001), while for pon1 gene polymorphism L55M allele (p= 0, 649) and genotype (p= 0, 327) frequencies did not differ significantly. The catalytic concentrations of serum PON1 were significantly lower in patients with PAD (p=0, 001). In both groups studied the lowest catalytic concentration were found in QQ and MM genotypes of pon1 gene. Conclusions. Lower catalytic concentrations of serum PON1 and Q192R pon1 gene polymorphism could play a role in the development of PAD. Differences in the Q and R allelle frequencies between healthy subjects and patients with PAD may be one of the causes for the reduced catalytic concentrations of serum PON1.

pon1 gene polymorphisms; peripheral arterial disease

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