Objectives: Paraoxonase (PON1) plays a role in preventing the oxidation of lipoproteins and protecting against atherosclerosis. Several polymorphisms have been described in the gene encoding this enzyme, which are related to different enzymatic activities. Fabry Disease (FD) is a lysosomal storage disease associated with cardiomyopathy, early-onset stroke, renal failure, among other features. The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met in FD patients and correlate them with clinical symptoms.
Design and methods: A total of 106 subjects with FD and 26 healthy individuals were selected for the study. Both polymorphisms were assessed in the DNA of blood samples using PCR-RFLP. Hardy-Weinberg equilibrium was calculated for the genotypes and statistical analyses were realized using the Chi-Squared test with Yates correction.
Results: The allele frequencies of the polymorphism Gln192Arg for FD patients and control were 0.38 and 0.25, respectively. A comparison of the frequencies for Gln192Arg polymorphism between FD patients and controls revealed a significant difference. The clinical information was obtained from 41 patients. Patients with the Gln192Arg polymorphism showed different cardiovascular manifestations.
Conclusions: The higher frequency of the Gln192Arg polymorphism among FD patients highlighted the possibility of a correlation between the PON1 genetic variation and the phenotypes because the disease has a wide range of symptoms not explained exclusively by mutations on the GLA gene.
Copyright © 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.