Relationship of Paraoxonase 1 (PON1) Gene Polymorphisms and Functional Activity With Systemic Oxidative Stress and Cardiovascular Risk

AbstractObjective: Vitiligo is a chronic autoimmune depigmentation disease, which is characterized by loss of function of the melanocytes in epidermis. Recent studies suggest that oxidant/antioxidant status plays important role in the pathogenesis of vitiligo. We aimed to investigate possible associations between vitiligo and PON1 M / L55 and PON Q192R gene polymorphisms in the Turkish community.Methods: The 57 patients with vitiligo and 69 healthy controls were enrolled into the study. Genotyping was performed to identify PON1 M / L55 and PON Q192R gene polymorphism. Genotype and allele frequencies were compared between patients with vitiligo and healthy control group.Results: In patients (p=0.0061) and healthy controls (p=0.550), there was no significant statistical difference between L55M and Q192R polymorphisms of the PON1 gene. However, when L55M polymorphism was compared to MM homozygous genotype and LL+LM genotypes, it was notably higher in controls than in patients, which seems to be protective against the disease (p=0.034, OR:0. 3, 95% CU: 0.08-0.93). Although, there was no not a statistical difference in allele frequencies of Q192R polymorphism between patients and controls (p=0.242), the M allele of L55M polymorphism was significantly higher in controls than in patients with vitiligo, which means that it might be protective against vitiligo (p=0.009, OR: 0.48, 95% CI: 0.27-0.84).Conclusion: Even though there were no differences between patients and controls, this is the first study that investigated the possible associations between the PON1 M/L55 and PON Q192R gene polymorphisms within the Turkish population.

Download Full-text

Two common nonsynonymous paraoxonase 1 (PON1) gene polymorphisms and brain astrocytoma and meningioma

BMC Neurology ◽

10.1186/1471-2377-10-71 ◽

2010 ◽

Vol 10 (1) ◽

Cited By ~ 17

Author(s):

Carmen Martínez ◽

José A Molina ◽

Hortensia Alonso-Navarro ◽

Félix J Jiménez-Jiménez ◽

José AG Agúndez ◽

...

Keyword(s):

Gene Polymorphisms ◽

Paraoxonase 1 ◽

Pon1 Gene

Download Full-text

Genetic polymorphisms of paraoxonase 1 and susceptibility to atherogenesis

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1310629g ◽

2013 ◽

Vol 141 (9-10) ◽

pp. 629-633 ◽

Cited By ~ 8

Author(s):

Ivana Grubisa ◽

Petar Otasevic ◽

Nada Dimkovic ◽

Ivana Nedeljkovic ◽

Bosko Toljic ◽

...

Keyword(s):

Oxidative Stress ◽

Clinical Manifestations ◽

Density Lipoprotein ◽

Rflp Analysis ◽

Catalytic Efficiency ◽

Paraoxonase 1 ◽

Gene Variants ◽

Pon1 Gene ◽

Genotype Frequencies ◽

Significant Difference

Introduction. Paraoxonase 1 (PON1) is a multifunctional enzyme associated with high-density lipoprotein particles (HDL). It is a cellular antioxidant that hydrolyses oxidized macromolecules, especially low-density lipoproteins (ox-LDL). Because increased oxidative stress is believed to play a crucial role in the initiation and propagation of atherosclerosis, coding (Q192R and L55M) and promoter (C(-107)T) region polymorphisms of pon1 gene, that are responsible for catalytic efficiency, activity and the level of the enzyme, have been of great interest as a potential markers of susceptibility for atherogenesis. Objective. The aim of the study was to assess possible association between these pon1 gene variants and clinical manifestations of the atherosclerosis and oxidative stress. Methods. A total of 60 angiographically documented patients with manifested atherosclerotic disease and 100 control individuals were analyzed. Genomic DNA was isolated from the peripheral blood cells and genotyping was performed using polymerase chain reaction followed by the restriction fragment length polymorphism (PCR-RFLP) analysis. Results No significant difference in allele and genotype frequencies of all three examined polymorphisms was found between the atherosclerotic patients and healthy controls. The obtained results could not support an association of pon1 gene variants with the oxidative stress and atherogenesis. Conclusion. These polymorphisms cannot be considered risk factors of atherosclerosis in Serbian population. A larger study is required in order to establish possible contribution of pon1 variants to atherosclerosis-related cardiovascular diseases.

Download Full-text