Dataset Information

Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals.

ABSTRACT:

Subject

The Angiopoietin-like 3 (ANGPTL3) gene has been reported to be associated with cardiovascular risk. This study is designed to compare the genetic variant (rs1748195) of the ANGPTL3 gene and the presence of a coronary artery occlusion of >50% in Iranian nation.

Method

In this study, 184 patients underwent angiography and 317 healthy individuals were evaluated for polymorphism of rs1748195 the ANGPTL3 gene using Tetra-ARMs PCR. Coronary patients who experience angiography were categorized into two groups: 54 patients who had an angiography indication for the first time and coronary occlusion was <50% (Angio-) and 134 patients who formerly underwent coronary stent implanting at least 1 month before with coronary occlusion of ≥50% that again have an angiography indication (Angio+). In addition, individuals with angio+ are categorized in two groups: (1) non-in-stent restenosis (NISR); patient with a patent stent (N = 92). (2) in-stent restenosis (ISR); in-stent stenosis >50% (N = 42).

Result

The fundamental of characteristics of our study design population was categorized based on undergoing angiography or not. In the present study, we investigated that the CC genotype, and also the A allele corresponding to rs1748195 at the ANGPTL3 gene loci, was associated with negative angiogram and directly related to the risk of coronary occlusion >50%. In contrast, this result was not significant in genotypes of ANGPTL3 between non-ISR and ISR groups.

Conclusion

The outcomes of this study showed that rs1748195 polymorphism at the ANGPTL3 gene loci is associated with an elevated risk for the existence of a coronary occlusion of >50%.

SUBMITTER: Afkhami N

PROVIDER: S-EPMC10009914 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Publications

Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals.

Afkhami Nafise N Aghasizadeh Malihe M Ghiasi Hafezi Somayeh S Zare-Feyzabadi Reza R Saffar Soflaei Sara S Rashidmayvan Mohammad M Rastegarmoghadam-Ebrahimian Arezoo A Khanizadeh Khashayar K Safari Nilufar N Ferns Gordon A GA Esmaily Habibollah H Darban Reza Assaran RA Ghayour-Mobarhan Majid M

Molecular genetics & genomic medicine 20221123 3

<h4>Subject</h4>The Angiopoietin-like 3 (ANGPTL3) gene has been reported to be associated with cardiovascular risk. This study is designed to compare the genetic variant (rs1748195) of the ANGPTL3 gene and the presence of a coronary artery occlusion of >50% in Iranian nation.<h4>Method</h4>In this study, 184 patients underwent angiography and 317 healthy individuals were evaluated for polymorphism of rs1748195 the ANGPTL3 gene using Tetra-ARMs PCR. Coronary patients who experience angiography we ...[more]

PMID: 36416040

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Project description:BackgroundFamilial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin-like 3 (ANGPTL3). Whether ANGPTL3 deficiency reduces risk of coronary artery disease (CAD) is unknown.ObjectivesThe study goal was to leverage 3 distinct lines of evidence-a family that included individuals with complete (compound heterozygote) ANGPTL3 deficiency, a population based-study of humans with partial (heterozygote) ANGPTL3 deficiency, and biomarker levels in patients with myocardial infarction (MI)-to test whether ANGPTL3 deficiency is associated with lower risk for CAD.MethodsWe assessed coronary atherosclerotic burden in 3 individuals with complete ANGPTL3 deficiency and 3 wild-type first-degree relatives using computed tomography angiography. In the population, ANGPTL3 loss-of-function (LOF) mutations were ascertained in up to 21,980 people with CAD and 158,200 control subjects. LOF mutations were defined as nonsense, frameshift, and splice-site variants, along with missense variants resulting in <25% of wild-type ANGPTL3 activity in a mouse model. In a biomarker study, circulating ANGPTL3 concentration was measured in 1,493 people who presented with MI and 3,232 control subjects.ResultsThe 3 individuals with complete ANGPTL3 deficiency showed no evidence of coronary atherosclerotic plaque. ANGPTL3 gene sequencing demonstrated that approximately 1 in 309 people was a heterozygous carrier for an LOF mutation. Compared with those without mutation, heterozygous carriers of ANGPTL3 LOF mutations demonstrated a 17% reduction in circulating triglycerides and a 12% reduction in low-density lipoprotein cholesterol. Carrier status was associated with a 34% reduction in odds of CAD (odds ratio: 0.66; 95% confidence interval: 0.44 to 0.98; p = 0.04). Individuals in the lowest tertile of circulating ANGPTL3 concentrations, compared with the highest, had reduced odds of MI (adjusted odds ratio: 0.65; 95% confidence interval: 0.55 to 0.77; p < 0.001).ConclusionsANGPTL3 deficiency is associated with protection from CAD.

Dataset Information

Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals.

Subject

Method

Result

Conclusion

Publications

Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals.

Similar Datasets

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