PON1 L55M and Q192R gene polymorphisms and CAD risks in patients with hyperlipidemia

Chen, H.; Ding, Shifang; Zhou, Ming; Wu, Xin-ai; Liu, X.; Liu, J.; Wu, Yun; Liu, D.

doi:10.1007/s00059-017-4611-0

Cited by 12 publications

(10 citation statements)

References 37 publications

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“…However, these associations were not seen in patients with STEMI, as well as in the whole patients’ group with ACS. Similar lack of differences between the carriers of PON1 L55M genotypes was reported for patients with CAD [ 21 ] and ACS [ 31 ].…”

Section: Discussionsupporting

confidence: 81%

“…There are also reports with opposite findings: the 55M allele, as well as the 55MM genotype, appeared to be with a protective role for coronary artery disease (CAD) in comparison to the wild type L allele [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

“…There are large amount of data clearly demonstrating the role of decreased PON1 enzyme activity in coronary artery disease (CAD) [ 14 ], however the association studies for the role of the two functional polymorphisms in PON1 gene (PON1L55M, and Q192R) with ischemic heart disease (CHD) and acute myocardial infarction risk are still with controversial results [ 15 , 16 , 17 , 18 , 19 , 20 , 21 ].…”

Section: Introductionmentioning

confidence: 99%

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Role of Single Nucleotide Polymorphism L55M in the Paraoxonase 1 Gene as a Risk and Prognostic Factor in Acute Coronary Syndrome

Doneva-Basheva

Gospodinov

Tacheva

et al. 2022

CIMB

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The aim of the current study is to explore the possible role of L55M, (rs 854560, 163T > A) SNP as a predisposing factor for acute coronary syndrome (ACS) and to assess its potency as a prognostic biomarker for short (1 year) survival and for median (5 years) and 9-year long patients’ outcome. Methods: The current work is a prospective case-control study with 77 patients with acute coronary syndrome (53 with ST-elevation myocardial infarction, STEMI, 14 with non-ST-elevation myocardial infarction, NSTEMI and 10 with unstable angina, UA) and 122 control individuals. Patients were followed-up for 9 years. The genotyping for PON1 L55M SNP was carried on by PCR-RFLP method. Results: The results of the genotyping for PON1 L55M SNP showed a statistically significant difference (p = 0.023) between the controls and the whole group of patients with acute coronary syndrome, as the individuals with genotype with at least one variant M allele had about 2.5-fold higher risk for developing ACS than those which are homozygous of the wild-type L allele (LL genotype). In patients with variant M allele genotypes (LM + MM) which suffer from non-ST-segment elevation ACS (NSTEACS, i.e., UA or NSTEMI), the serum levels of total cholesterol (TC) and triacylglycerols (TAG) are significantly higher than in NSTEACS patients with LL genotype (p = 0.022 for TC and p = 0.015 for TAG). There was no significant difference in the survival rate at the 1st, 5th and 9th year of follow-up between ACS patients with different genotypes, although it is worth to note that in the subgroup of NSTEACS, all patients (n = 13) with variant M allele genotypes (LM + MM) were alive at the end of the first year, while 2 of the patients with LL genotype (18.2%) were dead. Conclusions: The results of our current study suggest that the variant M allele and the M allele genotypes (LM + MM) of the PON1 L55M polymorphism are risk factors for acute coronary syndrome, especially for patients with STEMI, but do not support the possible effect of this polymorphism on the clinical progression and outcome of the patients with ACS either in short or long follow-up periods.

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Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Role of Single Nucleotide Polymorphism L55M in the Paraoxonase 1 Gene as a Risk and Prognostic Factor in Acute Coronary Syndrome

Doneva-Basheva

Gospodinov

Tacheva

et al. 2022

CIMB

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“…This is the first study of PON1 activity and region polymorphisms coding in a family with FH with LDLR mutation, although in a couple of recent studies, the role of rs662 was assessed in relation to serum lipid levels and coronary artery disease ( Liang, 2016 ; Chen et al , 2017 ). PON1 genotype and activity are not being monitored in routine clinical practice for the management of hypercholesterolemia.…”

Section: Discussionmentioning

confidence: 99%

Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene

et al. 2018

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Paraoxonase 1 (PON1) is a serum enzyme associated with high density lipoprotein (HDL) regulation through its paraoxonase and arylesterase activity. PON1 inhibits the oxidation of HDL and low density lipoprotein (LDL), and is involved in the pathogenesis of a variety of diseases including atherosclerosis. Conversely, mutations in the low density lipoprotein receptor (LDLR) result in failure of receptor mediated endocytosis of LDL leading to its elevated plasma levels and onset of familial hypercholesterolemia (FH). In the current study we investigated the role of PON1 polymorphisms rs662; c.575A > G (p.Gln192Arg) and rs854560; c.163T > A (p.Leu55Met) in a large family having FH patients harboring a functional mutation in LDLR. Genotypes were revealed by RFLP, followed by confirmation through Sanger sequencing. PON1 activity was measure by spectrophotometry. Our results show significantly reduced serum paraoxonase and arylesterase activities in FH patients compared with the healthy individuals of the family (p < 0.05). PON1 QQ192 genotype showed a significantly higher association with FH (p=0.0002). PON1 Q192 isoform was associated with reduced serum paraoxonase activity by in silico analysis and PON1 R192 exhibited higher serum paraoxonase and arylesterase activity than the other polymorphs. Our results highlight that the combination of LDLR mutations and PON1 MMQQ genotypes may lead to severe cardiac events.

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“…For the PON1 gene L55M polymorphism, there was a recent meta-analysis which investigated 14 studies; 2 of these were from Turkey and included 6374 ischemic 192 (p = 0.004) [27].…”

Section: Studiesmentioning

confidence: 99%

Importance of Genetic Polymorphisms (Rs662 and Rs854560) of the Paraoxonase-1 Gene as Risk Factor for Acute Ischemic Stroke in Turkish Population

Antonio¹,

Alfredo²,

Luisa³

et al. 2019

Int J Crit Care Emerg Med

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Introduction: Ischemic stroke is account for most of the mortality and morbidity cases around the World. Paraoxonase-1 (PON1) is a significant candidate gene for ischemic stroke because of its function against atherosclerosis. Methods: We studied two common polymorphisms (Q192R [rs662] and L55M [rs854560]) of PON1 gene using PCR-based RFLP assay. Overall, 107 patients diagnosed as acute ischemic stroke and 99 healthy controls were enrolled in the present study. We also carried out a meta-analysis containing 3 case-control studies from Turkey. Results: Allele frequencies of PON1 gene Q192R and L55M polymorphisms didn't demonstrate any significant differences between patients and controls (p > 0.05). However, genotype frequencies were significantly different between patients and controls in terms of Q192R polymorphism (p = 0.030). Statistically significant correlations were observed between systolic and diastolic blood pressures of patients and L55M polymorphism (p = 0.017 and p = 0.039, respectively). Heterozygosity for the both Q192R and L55M polymorphisms demonstrated a statistically significant association with acute ischemic stroke in composite genotype analyses (p = 0.033). The results of meta-analysis showed a significant correlation between acute ischemic stroke and the PON1 gene L55M polymorphism in Turkish population. Conclusion: PON1 gene Q192R and L55M polymorphisms may have effects on acute ischemic stroke susceptibility in Turkish population.

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PON1 L55M and Q192R gene polymorphisms and CAD risks in patients with hyperlipidemia

Abstract: The PON1 alleles 192R and 55L are associated with CAD, and the Q192R polymorphism may be a risk factor for CAD.

Cited by 12 publications

References 37 publications

Role of Single Nucleotide Polymorphism L55M in the Paraoxonase 1 Gene as a Risk and Prognostic Factor in Acute Coronary Syndrome

Role of Single Nucleotide Polymorphism L55M in the Paraoxonase 1 Gene as a Risk and Prognostic Factor in Acute Coronary Syndrome

Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene

Importance of Genetic Polymorphisms (Rs662 and Rs854560) of the Paraoxonase-1 Gene as Risk Factor for Acute Ischemic Stroke in Turkish Population

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