Polymorphisms in the Factor VII Gene and the Risk of Myocardial Infarction in Patients with Coronary Artery Disease

Girelli, Domenico; Russo, Carla; Ferraresi, Paolo; Olivieri, Oliviero; Pinotti, Mirko; Friso, Simonetta; Manzato, Franco; Mazzucco, Alessandro; Bernardi, Francesco; Corrocher, Roberto

doi:10.1056/nejm200009143431104

Cited by 211 publications

(161 citation statements)

References 31 publications

(28 reference statements)

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“…24 On the other hand, certain factor VII genotypes associated with lower plasma factor VII levels (and thus lower prothrombinase activity) are thought to protect against myocardial infarction. 25 Platelets express this procoagulant activity in response to collagens or CVX in a dose-dependent manner, as reported by Alberio et al 11 and confirmed by our results in the present study. At 2 different concentrations (14.7 and 22 ng/mL), CVX induced prothrombinase activity in a dose-dependent manner.…”

Section: Furihata Et Alsupporting

confidence: 93%

Variation in Human Platelet Glycoprotein VI Content Modulates Glycoprotein VI–Specific Prothrombinase Activity

Furihata

Clemetson

Deguchi

et al. 2001

ATVB

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Abstract-Glycoprotein VI (GPVI) is a platelet-specific receptor for collagen that figures prominently in signaltransduction. An addition to binding to type I and III collagens, GPVI is also bound specifically by collagen-related peptide and convulxin (CVX), a snake venom protein. We developed a quantitative assay of platelet GPVI in which biotin-conjugated CVX binds selectively to GPVI in separated total platelet proteins by a ligand blot procedure. Using this approach, we have documented a 5-fold range in platelet GPVI content among 23 normal healthy subjects. In addition, we have determined that CVX-induced or collagen-related peptide-induced prothrombinase activity is directly proportional to the platelet content of GPVI. A statistically significant correlation was observed at 2 CVX concentrations: 14.7 ng/mL (R 2 ϭ0.854 and PϽ0.001, nϭ11) and 22 ng/mL (R 2 ϭ0.776 and PϽ0.001, nϭ12). In previous studies, we established a similar range of expression of the integrin collagen receptor ␣ 2 ␤ 1 on platelets of normal subjects. Among 15 donors, there is a direct correlation between platelet ␣ 2 ␤ 1 density and GPVI content (R 2 ϭ0.475 and Pϭ0.004). In view of the well-documented association of GPVI with platelet procoagulant activity, this study suggests that the variation in GPVI content is a potential risk factor that may predispose individuals to hemorrhagic or thromboembolic disorders.

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Section: Furihata Et Alsupporting

confidence: 93%

Variation in Human Platelet Glycoprotein VI Content Modulates Glycoprotein VI–Specific Prothrombinase Activity

Furihata

Clemetson

Deguchi

et al. 2001

ATVB

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“…Details about the enrolment criteria have been described elsewhere. 14 In the present study, we examined data from a total of 1431 subjects, for whom complete analyses of seven ALOX5AP SNPs (see below) were available. Of these subjects, 1047 had angiographically documented severe coronary atherosclerosis (CAD group), the majority of them being candidates for coronary artery bypass grafting or percutaneous coronary intervention.…”

Section: Study Populationmentioning

confidence: 99%

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study

et al. 2007

Self Cite

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The aim of this study was to explore the role of variants of the gene encoding arachidonate 5-lipoxygenase-activating protein (ALOX5AP) as possible susceptibility factors for coronary artery disease (CAD) and myocardial infarction (MI) in patients with or without angiographically proven CAD. A total of 1431 patients with or without angiographically documented CAD were examined simultaneously for seven ALOX5AP single-nucleotide polymorphisms, allowing reconstruction of the at-risk haplotypes (HapA and HapB) previously identified in the Icelandic and British populations. Using a haplotype-based approach, HapA was not associated with either CAD or MI. On the other hand, HapB and another haplotype within the same region (that we named HapC) were significantly more represented in CAD versus CAD-free patients, and these associations remained significant after adjustment for traditional cardiovascular risk factors by logistic regression (HapB: odds ratio (OR) 1.67, 95% confidence interval (CI) 1.04 -2.67; P ¼ 0.032; HapC: OR 2.41, 95% CI 1.09-5.32; P ¼ 0.030). No difference in haplotype distributions was observed between CAD subjects with or without a previously documented MI. Our angiography-based study suggests a possible modest role of ALOX5AP in the development of the atheroma rather than in its late thrombotic complications such as MI.

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“…It is shown the clinical value of two polymorphisms of the gene: R353Q 10976 G4A and À323 ins 10 bp (insertion of 10 nucleotides in promoter region). The presence of the minor allele of the gene has a proven protective effect against the development of thrombosis and cardiovascular diseases [68]. In case of SNP 10976 G4A allele A presence enzyme activity is reduced and in case of insertions in the promoter of the gene expression level decreases.…”

Section: Snps In the Renin-angiotensin Systemmentioning

confidence: 99%

Toward optimal set of single nucleotide polymorphism investigation before IVF

Ivanov

Dedul

Fedotov

et al. 2016

Gynecological Endocrinology

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Background: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP. Materials and methods: During 2009-2015 in the University Hospital of St. Petersburg State University, blood samples were analyzed from 550 women with different reproductive system disorders preparing for IVF and 46 healthy women in control group. In total, 28 SNP were analyzed in the genes of thrombophilia factors, folic acid cycle, detoxification system, and the renin-angiotensin system. The method used was real-time PCR. Results: A significant increase in the frequency of pathological alleles of some polymorphisms in patients with habitual failure of IVF was shown, compared with the control group. As a result, two options defined panels for optimal typing SNP before IVF were composed. Standard panel includes 8 SNP, 5 in thromborhilic factors, and 3 in folic acid cycle genes. They are 20210 G4A of FII gene, R506Q G4A of FV gene (mutation Leiden), -675 5G44G of PAI-I gene, L33P T4C of ITGB3 gene, -455 G4A of FGB gene, 667 C4T of MTHFR gene, 2756 A4G of MTR gene, and 66 A4G of MTRR gene. Extended panel of 15 SNP also includes 807 C4T of ITGA2 gene, T154M C4T of GP1BA gene, second polymorphism 1298 A4C in MTHFR gene, polymorphisms of the renin-angiotensin gene AGT M235T T4C and -1166 A4C of AGTR1 gene, polymorphisms I105V A4G and A114V C4T of detoxification system gene GSTP. Conclusion:The results of SNP genotyping can be adjusted for treatment tactics and IVF, and also medical support getting pregnant. The success rate of IVF is increased as the result, especially in the group with the usual failure of IVF.

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Polymorphisms in the Factor VII Gene and the Risk of Myocardial Infarction in Patients with Coronary Artery Disease

Abstract: Our findings suggest that certain factor VII genotypes have a role in protection against myocardial infarction. This may explain why some patients do not have myocardial infarction despite the presence of severe coronary atherosclerosis.

Cited by 211 publications

References 31 publications

Variation in Human Platelet Glycoprotein VI Content Modulates Glycoprotein VI–Specific Prothrombinase Activity

Variation in Human Platelet Glycoprotein VI Content Modulates Glycoprotein VI–Specific Prothrombinase Activity

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study

Toward optimal set of single nucleotide polymorphism investigation before IVF

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