title: Paraoxonase 1 genotype-phenotype correlation in patients with metabolic syndrome.
abstract: The aim of the study was to investigate the influence of three single nucleotide polymorphisms (SNPs) (-108C>T, -162A>G and -909G>C) from the promoter region of paraoxonase 1 (PON1) gene on the enzyme activity, in patients with metabolic syndrome (MS). The study group consisted of 61 individuals with MS and the control group of 73 individuals without MS, matched for age and gender. For each individual, clinical and genetic parameters with possible influence on PON1 activities (paraoxonase, arylesterase and lactonase) were measured. PON1 genotyping was performed with PCR-RFLP, using specific primers and restriction enzymes. We found no differences for distribution of PON1 -108C>T, -162A>G and -909G>C polymorphisms, between the two groups (p-NS). The -108C>T and -909G>C polymorphisms were associated with paraoxonase (p=0.03, p=0.006, respectively), arylesterase (p<0.001, p<0.001, respectively) and lactonase (p<0.001, p<0.001, respectively) activities. The -162A>G polymorphism was not associated with paraoxonase (p-NS) or lactonase (p-NS) activities, but influenced the arylesterase activity (p=0.03). PON1 activities were influenced by all three polymorphisms, regardless of the presence of MS.
authors.affiliation: Department of Pharmacology, Toxicology and Clinical Pharmacology, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania; stefanvesa@gmail.com.
authors.forename: Lorena
authors.initials: L
authors.lastname: Ciumărnean
authors.forename: Eleonora
authors.initials: E
authors.lastname: Dronca
authors.forename: Ştefan Cristian
authors.initials: ŞC
authors.lastname: Vesa
authors.forename: Dorel
authors.initials: D
authors.lastname: Sâmpelean
authors.forename: Anca Dana
authors.initials: AD
authors.lastname: Buzoianu
authors.forename: Andrei
authors.initials: A
authors.lastname: Achimaş-Cadariu
mesh_terms: D043303:Aryldialkylphosphatase / Q000235:genetics*; D003710:Demography; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000201:enzymology* / Q000235:genetics*; D008875:Middle Aged
chemical_list: D043303:Aryldialkylphosphatase; C468406:PON1 protein, human