scholarly journals G2691A and C2491T mutations of factor V gene and pre-disposition to myocardial infarction in Morocco

2016 ◽  
Vol 5 (5) ◽  
pp. 618-622 ◽  
Author(s):  
Wiam Hmimech ◽  
Brehima Diakite ◽  
Hind Hassani Idrissi ◽  
Khalil Hamzi ◽  
Farah Korchi ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Factor V ◽  
Factor V Gene ◽  
V Gene

Myocardial infarction under the age of 36: prevalence of thrombophilic disorders

2003 ◽  
Vol 90 (08) ◽  
pp. 272-279 ◽  
Author(s):  
Chrusula Belesi ◽  
Helen Manioudaki ◽  
Vassilis Chatziioakimidis ◽  
Vassiliki Fakitsa ◽  
Loukas Sinos ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Protein C ◽  
Antithrombin Iii ◽  
Protein S ◽  
Factor V ◽  
C Protein ◽  
G20210a Mutation ◽  
Factor V Gene ◽  
Prothrombin Gene ◽  
V Gene

SummaryIt has been suggested that thrombotic tendency increases the risk of myocardial infarction (MI). To investigate the association between the risk of MI at a young age and genetic thrombogenic disorders (G20210A mutation in the prothrombin gene, G1691A mutation in the factor V gene and deficiencies of protein C, protein S and antithrombin III) we conducted a case-control study among 70 survivors of MI who had experienced the event before the age of 36 and 260 healthy subjects. The G20210A mutation in the prothrombin gene was found more often in young patients with MI than among controls (11.4 versus 3.1%). The odds ratio (OR) for MI for carriers versus non-carriers was 4 (95% confidence interval [CI], 1.5 to 11.3). The adjusted OR for major cardiovascular risk factors (smoking, hypecholesterolaemia, diabetes mellitus, hypertension and obesity) was 4.3 (95% CI,1.3 to 14). The simultaneous presence of both G20210A mutation in the prothrombin gene and smoking further increased the risk of MI compared with nonsmokers and non-carriers (OR, 58; 95% CI, 11.4-294). The G1691A mutation in factor V gene was not associated with an increased relative risk for MI (OR, 0.87; 95% CI, 0.26 to 2.5). Finally, there was no significant difference in the prevalence of deficiencies of protein C, protein S and antithrombin III between cases and controls. In conclusion, our data indicate that the G20210A mutation in the prothrombin gene was the only genetic prothrombotic risk factor associated with the risk of developing MI under the age of 36 years.

Elevated Levels of Prothrombin Activation Fragment 1+2 in Plasma from Patients with Heterozygous Arg506 to Gin Mutation in the Factor V Gene (APC-Resistance) and/or Inherited Protein S Deficiency

1996 ◽  
Vol 75 (02) ◽  
pp. 270-274 ◽  
Author(s):  
Benget Zöller ◽  
Johan Holm ◽  
Peter Svensson ◽  
Björn Dahlbäck
Keyword(s):  
Plasma Concentration ◽  
Protein C ◽  
Protein S ◽  
Factor V ◽  
Protein S Deficiency ◽  
Apc Resistance ◽  
S Deficiency ◽  
Increased Risk ◽  
Factor V Gene ◽  
V Gene

SummaryInherited resistance to activated protein C (APC-resistance), caused by a point mutation in the factor V gene leading to replacement of Arg(R)506 with a Gin (Q), and inherited protein S deficiency are associated with functional impairment of the protein C anticoagulant system, yielding lifelong hypercoagulability and increased risk of thrombosis. APC-resistance is often an additional genetic risk factor in thrombosis-prone protein S deficient families. The plasma concentration of prothrombin fragment 1+2 (F1+2), which is a marker of hyper-coagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gin mutation (APC-resistance) and/or inherited protein S deficiency. The plasma concentration of F1+2 was significantly higher both in 38 individuals carrying the FV:Q506 mutation in heterozygous state (1.7 ± 0.7 nM; mean ± SD) and in 48 protein S deficient cases (1.9 ± 0.9 nM), than in 100 unaffected relatives (1.3 ±0.5 nM). Warfarin therapy decreased the F1+2 levels, even in those four patients who had combined defects (0.5 ± 0.3 nM). Our results agree with the hypothesis that individuals with APC-resistance or protein S deficiency have an imbalance between pro- and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state.

A Novel Polymorphism in Exon 10 of the Factor V Gene Inducing an Amino Acid Replacement of Arginine to Lysine at Codon 485

1997 ◽  
Vol 78 (05) ◽  
pp. 1419-1420 ◽  
Author(s):  
Tetsuo Ozawa ◽  
Kenji Niiya ◽  
Naoko Ejiri ◽  
Nobuo Sakuragawa
Keyword(s):  
Amino Acid ◽  
Amino Acid Replacement ◽  
Factor V ◽  
Factor V Gene ◽  
V Gene ◽  
Exon 10

scholarly journals Factor V Kuwait: A Novel Mutation in the Coagulation Factor V Gene Discovered in Kuwait

2006 ◽  
Vol 15 (2) ◽  
pp. 102-105
Author(s):  
Mehrez M. Jadaon ◽  
Ali A. Dashti ◽  
Hend L. Lewis
Keyword(s):  
Novel Mutation ◽  
Coagulation Factor ◽  
Factor V ◽  
Coagulation Factor V ◽  
Factor V Gene ◽  
V Gene

scholarly journals A Factor V Genetic Component Differing From Factor V R506Q Contributes to the Activated Protein C Resistance Phenotype

Blood ◽  
1997 ◽  
Vol 90 (4) ◽  
pp. 1552-1557 ◽  
Author(s):  
F. Bernardi ◽  
E.M. Faioni ◽  
E. Castoldi ◽  
B. Lunghi ◽  
G. Castaman ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Protein C ◽  
Activated Protein C ◽  
Functional Assay ◽  
Factor V ◽  
Resistance Phenotype ◽  
Apc Resistance ◽  
Genetic Components ◽  
Factor V Gene ◽  
V Gene

AbstractFactor V gene polymorphisms were investigated to detect components that may contribute to the activated protein C (APC) resistance phenotype in patients with venous thromboembolism. A specific factor V gene haplotype (HR2) was defined by six polymorphisms and its frequency was found to be similar in normal subjects coming from Italy (0.08), India (0.1), and Somalia (0.08), indicating that it was originated by ancestral mutational events. The relationship between the distribution of normalized APC ratios obtained with the functional assay and haplotype frequency was analyzed in patients heterozygous for factor V R506Q (factor V Leiden). The HR2 haplotype was significantly more frequent in patients with ratios below the 15th percentile than in those with higher ratios or in normal controls. Moreover, the study of 10 patients with APC resistance in the absence of the factor V R506Q mutation showed a 50-fold higher frequency of HR2 homozygotes. The HR2 haplotype was associated with significantly lower APC ratios both in patients with venous thromboembolism and in age- and sex-matched controls. However, the two groups showed similar HR2 haplotype frequencies. Plasma mixing experiments showed that an artificially created double heterozygote for the factor V R506Q mutation and the HR2 haplotype had an APC ratio lower than that expected for a simple R506Q heterozygote. Time-course experiments evaluating the decay of factor V in plasma showed the normal stability of the molecule encoded by the factor V gene marked by the HR2 haplotype, which ruled out the presence of a pseudo-homozygous APC resistance mechanism. Our results provide new insights into the presence of factor V genetic components other than the factor V R506Q that are able to contribute to the APC resistance phenotype in patients with venous thromboembolism.

scholarly journals A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese

Blood ◽  
1998 ◽  
Vol 91 (4) ◽  
pp. 1135-1139 ◽  
Author(s):  
W.P. Chan ◽  
C.K. Lee ◽  
Y.L. Kwong ◽  
C.K. Lam ◽  
Raymond Liang
Keyword(s):  
Hong Kong ◽  
Dna Sequence ◽  
Denaturing Gradient Gel Electrophoresis ◽  
Novel Mutation ◽  
Clinical Importance ◽  
Hong Kong Chinese ◽  
Factor V ◽  
Mutation Site ◽  
Factor V Gene ◽  
V Gene

AbstractWe have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis. The DNA sequence variations of exons 7, 10, and 13, where the codons for Arg306, Arg506, and Arg679 are located, respectively, were studied by denaturing gradient gel electrophoresis. The G1691→A (Arg 506→Gln) mutation in exon 10 was not detectable in any of the 83 subjects. However, a high allelic frequency for the G1628→A (Arg 485→Lys) substitution was detectable in the same exon. We have also identified a novel DNA sequence mutation (A1090→G) in exon 7 that resulted in Arg 306→Gly substitution in 2 thrombotic patients and 1 nonthrombotic subject. Fresh blood samples were available from one of them for analysis of activated protein C resistance and the result was negative. Variation of DNA sequence was not found in exon 13 in any of our 83 subjects. The results of this study showed that, although the Arg 506→Gln mutation was rarely found in the Hong Kong Chinese population, a different mutation site such as A 1090→G in exon 7 of the factor V gene (Arg 306) may be of clinical importance.

Expression of coagulation factor V gene by normal adult human hepatocytes in primary culture

1991 ◽  
Vol 78 (2) ◽  
pp. 229-235 ◽  
Author(s):  
Marlene Mazzorana ◽  
Georges Baffet ◽  
Bernard Kneip ◽  
Bernard Launois ◽  
Christiane Guguen-Guillouzo
Keyword(s):  
Primary Culture ◽  
Coagulation Factor ◽  
Human Hepatocytes ◽  
Normal Adult ◽  
Factor V ◽  
Adult Human ◽  
Coagulation Factor V ◽  
Factor V Gene ◽  
V Gene
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