Association of a DNA polymorphism of the apolipoprotein AI–CIII–AIV gene cluster with myocardial infarction in a Tunisian population

Sediri, Yousra; Kallel, Amani; Feki, Moncef; Mourali, Sami; Elasmi, Monia; Abdessalem, Salem; Mechmèche, Rachid; Jemaa, Riadh; Kaabachi, Naziha

doi:10.1016/j.ejim.2011.03.002

Cited by 12 publications

(15 citation statements)

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“…Most of the studies used restriction fragment length polymorphism (RFLP) method for DNA genotyping (n=14) and one study applied the immobilised oligonucleotide probes array (IOPA) method 24. Multivariable OR could be extracted from four studies10 20 22 24 (see online supplementary table S3). Under dominant model (S1S2+S2S2 vs S1S1), the pooled univariate OR of all studies was 1.19 (95% CI 1.00 to 1.42; figure 2 and table 1), indicating a borderline significant association between Sst I polymorphism and CHD risk.…”

Section: Resultsmentioning

confidence: 99%

“…Sst I polymorphism might alter plasma lipid concentrations. Several studies showed that S2 carriers have higher plasma total cholesterol, TG and LDL-C levels,12 35 36 though other studies did not demonstrate significant difference 10 20 37. Besides, it has been shown that S2 allele might significantly influence dyslipidaemic state and atherosclerosis severity when patients changed their diet from saturated fatty acids to olive oil 38.…”

Section: Discussionmentioning

confidence: 97%

“…Sst I polymorphism is located in 3′-untranslated region of the ApoC3 gene, and it is possible that this polymorphism is in linkage disequilibrium with other functional polymorphism in the nearby region, such as T-455C polymorphism 10. Sst I polymorphism might alter plasma lipid concentrations.…”

Section: Discussionmentioning

confidence: 99%

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Association between apolipoprotein C3 Sst I, T-455C, C-482T and C1100T polymorphisms and risk of coronary heart disease

et al. 2014

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ObjectivesApolipoprotein C3 (ApoC3) polymorphisms have been suggested to be associated with risk of coronary heart disease (CHD). However, the results of relevant studies were inconsistent. We aimed to systematically evaluate this issue.DesignPubMed, EMBASE and Cochrane library databases (up to March 2013) were systematically searched to identify studies evaluating the association between ApoC3 polymorphisms and CHD risk. Two reviewers independently identified studies, extracted and analysed the data. Either a fixed-effects or a random-effects model was adopted to estimate overall ORs.Studies reviewedFinally, 20 studies comprising 15 591 participants were included in this systematic review. Fifteen studies with 11 539 individuals were included in the meta-analysis of Sst I polymorphism, four studies comprising 3378 individuals assessed T-455C polymorphism, four studies with 3070 participants evaluated C-482T polymorphism and C1100T polymorphism was assessed by three studies comprising 4662 participants.ResultsUnder dominant model, Sst I polymorphism was borderline significantly associated with CHD risk (S1S2+S2S2 vs S1S1, pooled OR=1.19, 95% CI 1.00 to 1.42). Subgroup analyses suggested that Sst I polymorphism was significantly associated with myocardial infarction (MI) risk (pooled OR=1.42, 95% CI 1.06 to 1.91), and Sst I polymorphism was statistically associated with CHD risk among Asian population (pooled OR=1.35, 95% CI 1.08 to 1.69) and in retrospective studies (pooled OR=1.30, 95% CI 1.04 to 1.61). A significant association was observed between T-455C polymorphism and CHD risk (TC+CC vs TT, pooled OR=1.22, 95% CI 1.06 to 1.42). A borderline significant association was suggested between T-455C polymorphism and MI risk (pooled OR=1.21, 95% CI 1.00 to 1.46). C-482T and C1100T polymorphisms were not indicated to be associated with CHD risk or MI risk.ConclusionsApoC3 Sst I and T-455C polymorphisms might be associated with CHD risk.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 97%

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Association between apolipoprotein C3 Sst I, T-455C, C-482T and C1100T polymorphisms and risk of coronary heart disease

et al. 2014

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“…Presence or absence of certain DNA fragments after the restriction digestion reveals the genotype for the target SNP. There are numerous studies utilizing PCR-RFLP in order to investigate the association between MI and gene polymorphisms in genes such as arginase I, apolipoprotein CIII, SDF1 and endothelial nitric oxide synthase (Jo et al 2006;Luan et al 2010;Sediri et al 2010Sediri et al , 2011.…”

Section: Introductionmentioning

confidence: 99%

Higher Frequency of rs4977574 (the G Allele) on Chromosome 9p21.3 in Patients with Myocardial Infarction as Revealed by PCR-RFLP Analysis

Sakalar

Gürbüz

Kalay

et al. 2013

Tohoku J. Exp. Med.

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Single Nucleotide Polymorphisms (SNPs) can genetically predispose individuals for certain diseases and therefore are of clinical significance. Myocardial infarction (MI) was investigated in large genetic association studies revealing novel SNPs associated with MI. rs4977574 is a non-protein coding SNP (A>G) that is located in proximity of cyclin-dependent kinase inhibitor 2A and B genes on chromosome 9p21.3. rs4977574 has been recently found to be associated with the early-onset of MI, and rs4977574 is characterized by a guanine nucleotide (G) instead of an adenine nucleotide (A). rs4977574 has been reported to increase the risk for MI by 28%. In this study, we developed a polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method for detecting rs4977574 in Turkish population that consisted of 28 controls without previous MI record and 44 patients with MI. An intergenic genomic region containing the target SNP was amplified by PCR using patient's genomic DNA. Amplified DNA fragments were digested with a restriction enzyme, HhaI that cuts the amplified sequence if only the sequence has GCGC that carries rs4977574. After digestion with HhaI, DNA fragments were visualized in order to detect genotypes. PCR-RFLP revealed that the frequency of rs4977574, the MI-associated allele (G), was 56.8% (25/44) in patients with MI and 33.9% (9.5/28) in controls; the frequency of rs4977574 in patients with MI was significantly higher compared to controls (P = 0.027). Importantly, for the first time in this study, we have developed a novel PCR-RFLP method to detect the presence of rs4977574.

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“…Another population study of 158 CHD patients, 35 patients with <70% stenosis on angiography and 151 CHD-free controls also failed to find any difference in SstI allele frequency between cases and controls [126], while a study of 219 diabetic and nondiabetic subjects found no association between SstI and either MI or diabetes [127]. However, a study of 200 Egyptian MI patients compared with 100 controls found that the SstI polymorphism was associated with a tripled risk of MI [128], and a larger study of 326 male MI patients and 361 controls noted a significant association of the SNP with MI [129]. …”

Section: Apoc-iiimentioning

confidence: 99%

Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics

Larach

Cuchel

Rader

2013

Clinical Lipidology

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Identification of the CETP, LIPG (encoding endothelial lipase) and APOC3 genes, and ana lysis of rare genetic variants in them, have allowed researchers to increase understanding of HDL metabolism significantly. However, development of cardiovascular risk-reducing therapeutics targeting the proteins encoded by these genes has been less straightforward. The failure of two CETP inhibitors is complex but illustrates a possible over-reliance on HDL cholesterol as a marker of therapeutic efficacy. The case of endothelial lipase exemplifies the importance of utilizing population-wide genetic studies of rare variants in potential therapeutic targets to gain information on cardiovascular disease end points. Similar population-wide studies of cardiovascular end points make apoC-III a potentially attractive target for lipid-related drug discovery. These three cases illustrate the positives and negatives of single-gene studies relating to HDL-related cardiovascular drug discovery; such studies should focus not only on HDL cholesterol and other components of the lipid profile, but also on the effect genetic variants have on cardiovascular end points.

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Association of a DNA polymorphism of the apolipoprotein AI–CIII–AIV gene cluster with myocardial infarction in a Tunisian population

Cited by 12 publications

References 37 publications

Association between apolipoprotein C3 Sst I, T-455C, C-482T and C1100T polymorphisms and risk of coronary heart disease

Association between apolipoprotein C3 Sst I, T-455C, C-482T and C1100T polymorphisms and risk of coronary heart disease

Higher Frequency of rs4977574 (the G Allele) on Chromosome 9p21.3 in Patients with Myocardial Infarction as Revealed by PCR-RFLP Analysis

Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics

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