The polymorphism −1131T&gt;C in apolipoprotein A5 gene is associated with dyslipidemia in Brazilian subjects

Ferreira, Cláudia N.; Carvalho, Maria G.; Fernandes, Ana Paula; Santos, Izabela R.; Rodrigues, Kathryna Fontana; Lana, Ângela Maria Quintão; Almeida, Cristina R.; Loures-Vale, Andréia Assis; Gomes, Karina Braga; Sousa, Marinez O.

doi:10.1016/j.gene.2012.12.016

Cited by 8 publications

(10 citation statements)

References 42 publications

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“…59 Similarly, our findings show an association between apoA5 -1131T>C polymorphism and lipid concentrations when they were evaluated, and Tc and Tg concentrations were higher in C-carriers than TT homozygous. 28 The -1131T>C polymorphism is located in the promoter region of the apoA5 gene and there is no transcription factor binding sites identified in this location. Therefore, it is justified that the -1131T>C variant may not be functional leading to increased levels of Tg.…”

Section: Discussionmentioning

confidence: 99%

“…The results of hemostatic parameters between groups, alleles and genotypes frequencies apoE and apoA5 were previously described. 4,28,46,47 In order to analyze the effect of apoE polymorphism on hemostatic parameters in dyslipidemic and normo-lipemic groups, individuals were divided into three apoE subgroups: E2, E3, and E4 (Table 1). No significant differences were observed among E2, E3, and E4 and hemostatic plasma levels in the normo-lipemic group.…”

Section: Characterization Of the Studied Groupsmentioning

confidence: 99%

“…2 Apolipoprotein-E (apoE) and apolipoprotein-A5 (apoA5) belong to the key proteins involved in the lipoprotein metabolism and CCVD. 4,[26][27][28] apoE is a component of chylomicrons, very low density lipoproteins (VLDL), remnant particles, and high density lipoproteins (HDL). 13 The structural gene for apoE is polymorphic.…”

Section: Introductionmentioning

confidence: 99%

“…38 The apoA5 can be involved in the abnormal accumulation of lipids in the endothelial cells under pathologic conditions, ultimately in the formation of atherogenic plaques that are key elements in obstructive vascular disease. 28 Although dyslipidemia often occurs in patients with cardiovascular disease, the underlying mechanisms remain poorly understood. 28 The association between hemostatic dysfunction and atherosclerosis is also largely unclear.…”

Section: Introductionmentioning

confidence: 99%

“…28 Although dyslipidemia often occurs in patients with cardiovascular disease, the underlying mechanisms remain poorly understood. 28 The association between hemostatic dysfunction and atherosclerosis is also largely unclear. 39 A major focus of recent research in CCVD has been to understand the molecular basis of atherosclerosis and the identification of the role of apolipoproteins in this process.…”

Section: Introductionmentioning

confidence: 99%

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Apolipoprotein polymorphism is associated with pro-thrombotic profile in non-demented dyslipidemic subjects

Ferreira

Carvalho

Gomes

et al. 2014

Exp Biol Med (Maywood)

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Apolipoprotein gene polymorphism has an important role in lipid metabolism and in the development of cerebro- and cardio-vascular disease (CCVD), including dementia. Dyslipidemia and hemostatic abnormalities are key risk factors associated with athero-sclerotic events preceding CCVD. The aim of this study was to evaluate the possible relationships of various apolipoprotein-species with hemostatic parameters and cognitive function. Lipid profile, gene polymorphism, coagulation markers, and mini-mental state examination (MMSE) scores were assessed in 109 dys-lipidemic subjects and in 107 healthy control volunteers. Thrombin-activatable fibrinolysis inhibitor (TAFI) plasma levels were significantly higher in apolipoprotein-E2 (apoE2) patients when compared to other apoE forms. The apoA5 -1131T>C polymorphism was associated with elevated D-dimer concentration in dyslipidemic TT homozygous individuals. MMSE did not correlate with lipid or coagulation profile. These data suggest that apoE and apoA5 variants have an effect on hemostatic parameters, but they neither influence nor predict cognitive performance in non-demented individuals.

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Section: Discussionmentioning

confidence: 99%

Section: Characterization Of the Studied Groupsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Apolipoprotein polymorphism is associated with pro-thrombotic profile in non-demented dyslipidemic subjects

Ferreira

Carvalho

Gomes

et al. 2014

Exp Biol Med (Maywood)

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The Association Between APOA5 Gene Polymorphisms and Plasma Lipids in the Turkish Cypriot Population: A Possible Biomarker for Preventing Cardiovascular Diseases

Fahrioğlu

Ergören

2017

Biochem Genet

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Apolipoprotein A5 (APOA5 or APO A-V) polymorphisms have long been reported to be associated with cardiovascular disease and plasma lipid levels. The present study was undertaken to investigate the relationship between the rs662799, rs3135507, and rs2075291 with biochemical parameters in the Turkish Cypriot population. A total of 100 Turkish Cypriot volunteer subjects (53 female and 47 male), with a mean age of 40.8, participated in the study. A basic biochemical analysis, including serum glucose, total serum cholesterol, HDL-C, LDL-C, and triglycerides, was performed for each participant. Genotyping for the APOA5 three polymorphisms was performed by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Biochemical parameters except the low-density lipoprotein cholesterol (LDL-C) were all within the normal limits. LDL-C was found to be slightly elevated in participants according to WHO guidelines. With respect to the genotype and allele distributions of APOA5 rs662799 T>C polymorphism, TT genotypes are more frequent (62%) in the population and the frequency of T allele is 0.78. The TT genotype for APOA5 rs2075291 GA variant is 0.12 for the A allele. No association between the two studied APOA5 polymorphisms (rs662799 and rs3135507) and the biochemical components of glucose, total cholesterol, and triglyceride were observed. On the other hand, a strong statistical association between the high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) clinical parameters and APOA5 rs662799 CC and rs3135507 AA genotypes was found (p = 0.014 and p = 0.017, respectively). APOA5 polymorphisms rs662799 and rs3135507, with the CC and the AA genotypes, respectively, are associated with increased levels of both high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) in the Turkish Cypriot population.

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Update on APOA5 Genetics: Toward a Better Understanding of Its Physiological Impact

Guardiola

Ribalta

2017

Curr Atheroscler Rep

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APOA5 is probably the gene with the strongest effect on triglyceride (TG) metabolism. APOA5 is almost exclusively expressed in the liver, and its product apoAV has a very low circulating concentration. New physiological roles of apoAV have been recently elucidated, such as control of chylomicron production in the intestine and TG accumulation in adipose tissue. The key role of APOA5 in TG metabolism has been largely shown through genetic studies in association with either severe or moderate hypertriglyceridemia. Studies suggest that APOA5 variants affect not only total TG concentrations but also the entire lipoprotein subclass distribution, shifting them toward atherogenic dyslipidemia in high-risk subjects. Environmental interactions and epigenetic factors are also crucial in regulating these processes. Delineation of the mechanisms involved in the transcriptional control of the gene, combined with determination of biological significance of the SNPs in the APOA5 locus, would help to fully understand the effect of APOA5 on TGs. In summary, APOA5 variants cause hypertriglyceridemia. In high cardiovascular risk patients (e.g., patients with metabolic syndrome or type 2 diabetes), APOA5 variants elevate TG levels and shift the entire lipoprotein subclass distribution toward atherogenic dyslipidemia. At a physiological level, apoAV seems to encompass more roles than those initially suggested after its discovery.

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The polymorphism −1131T>C in apolipoprotein A5 gene is associated with dyslipidemia in Brazilian subjects

Cited by 8 publications

References 42 publications

Apolipoprotein polymorphism is associated with pro-thrombotic profile in non-demented dyslipidemic subjects

Apolipoprotein polymorphism is associated with pro-thrombotic profile in non-demented dyslipidemic subjects

The Association Between APOA5 Gene Polymorphisms and Plasma Lipids in the Turkish Cypriot Population: A Possible Biomarker for Preventing Cardiovascular Diseases

Update on APOA5 Genetics: Toward a Better Understanding of Its Physiological Impact

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