Association of rs2781666 G/T polymorphism of arginase I gene with myocardial infarction in Tunisian male population

Sediri, Yousra; Kallel, Amani; Ali, Samir Ben; Omar, Souheil; Mourali, Mohamed Sami; Elasmi, Monia; Taieb, Samah Haj; Sanhaji, Haïfa; Feki, Moncef; Mechmèche, Rachid; Jemaa, Riadh; Kaabachi, Naziha

doi:10.1016/j.clinbiochem.2009.10.058

Cited by 14 publications

(7 citation statements)

References 24 publications

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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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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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“… and Sediri et al. demonstrated the association of the arginase I rs2781666 SNP with the risk of myocardial infarction. In addition to cardiovascular disease, arginase genes have also been associated with childhood asthma.…”

Section: Discussionmentioning

confidence: 99%

Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia

et al. 2014

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Aim To test the hypothesis that there are single-nucleotide polymorphisms (SNPs) in genes of the l-arginine/nitric oxide pathway associated with pulmonary hypertension (PH) in neonates with bronchopulmonary dysplasia (BPD). Methods Neonates with BPD were enrolled (n = 140) and clinical characteristics compared between case (BPD + PH) and control (BPD) groups. DNA was isolated from blood leucocytes and assayed for 17 SNPs in l-arginine/nitric oxide pathway genes by Sequenom massarray. Genes included carbamoyl-phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthase, nitric oxide synthase and arginase. SNPs were selected from the National Center for Biotechnology Information database for their putative functionality. Calculated minor allele frequencies (MAF) of cases and controls were compared using χ2 and logistic regression. Results Of the 140 patients with BPD, 26% had echocardiographic evidence of PH. Ventilation days were longer for cases than controls (mean 31 vs. 15 days, p < 0.05). Of the 17 SNPs, rs2781666 in arginase I gene was less common in cases (MAF = 0.23) than controls (MAF = 0.37, p = 0.04). The odds of PH decreased by 43% (p = 0.047) for each copy of the SNP minor allele in arginase I gene in patients with BPD. Conclusion Arginase I SNP (rs2781666) may be associated with protection against pulmonary hypertension in preterm neonates with BPD.

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“…Being first ever attempt to study the genetic variants at ARG1 locus and their associations to T2DM is incomparable and invites the scientific community to reproduce/exclude our findings by designing similar studies in different populations and /or sub-populations. However, Sediri and colleagues (2010[ 20 ]) showed concordant results of significant association between variant genotype/allele at rs2781666 and myocardial infarction. Similarly, Dumont et al (2007[ 7 ]) showed an increased risk of developing myocardial infarction with a variant genotype of rs2781666.…”

Section: Discussionmentioning

confidence: 99%

ARG1 single nucleotide polymorphisms rs2781666 and rs2781665 confer risk of type 2 diabetes mellitus

Shah

Iqbal

Naveed³

et al. 2018

EXCLI Journal; 17:Doc847; ISSN 1611-2156

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Association of rs2781666 G/T polymorphism of arginase I gene with myocardial infarction in Tunisian male population

Cited by 14 publications

References 24 publications

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

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

Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia

ARG1 single nucleotide polymorphisms rs2781666 and rs2781665 confer risk of type 2 diabetes mellitus

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