A polymorphism in the 5? region of coagulation factor VII gene (F7) caused by an inserted decanucleotide

Marchetti, Giovanna; Patracchini, P.; Papacchini, Maddalena; Ferrati, M.; Bernardi, Francesco

doi:10.1007/bf00217463

Cited by 102 publications

(65 citation statements)

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“…There are two common genetic polymorphisms of coagulation factor VII, both of which are known to lower the plasma factor VII activity: one is the replacement of arginine at 353 with glutamine in the catalytic region on Exon 8 (R353Q) (Green et al 1991) and the other is a 10-base pair (CCTATATCCT) insertion in the promoter region at position -323 (-323P0/10) (Marchetti et al 1993). It has been assumed that the plasma concentration of factor VII is lowered due to an impaired secretion level of factor VII in the R353Q variant (Hunault et al 1997).…”

Section: Discussionmentioning

confidence: 99%

“…Recently, several insertion-deletion and single-point mutations in the factor VII gene have been reported in the promoter region (e.g., -323P0/10 [a 10-bp insertion in the promoter region at position -323]) and within the proteincoding region (e.g., R353Q point mutation [the replacement of arginine with glutamine at residue 353]); those polymorphisms are known to affect either the function of the protein product or its level of expression (Green et al 1991;Marchetti et al 1993). In addition, the risk of spontaneous intracranial hemorrhage has been suggested to be linked to the factor VII polymorphism -323P0/10 in adults (Corral et al 2001).…”

Section: Blood Sampling and Normotestmentioning

confidence: 99%

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Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants

Ito

Goto

Sugiura

et al. 2007

Tohoku J. Exp. Med.

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Despite administration of vitamin K (VK), some infants show lower activity of VK-dependent coagulation factors and they could develop intracranial hemorrhage. For preventing VK deficiency bleeding (VKDB) in infants, oral administration of VK and a screening test for VK deficiency are carried out in Japan. For the screening, the total activity of VK-dependent coagulation factors is measured using a commercial product, Normotest ® . This study was undertaken to clarify the importance of the following genetic and environmental factors on the coagulation status in one-month-old infants: two polymorphisms in the factor VII gene, -323P0/10 (a 10-bp insertion in the promoter region at position -323) and R353Q (the replacement of arginine [R] with glutamine [Q] at residue 353) and sex, age, gestational age, birth weight, and feeding regimen. Two hundred Japanese infants (34.6 ± 4.0 days old) were screened for VK-dependent coagulation activity with Normotest and were genotyped for the two polymorphisms. Among the subjects screened, 18 infants (9%) carried the P10 allele and 26 (13%) carried the R353Q allele. Multiple regression analysis showed that the 10-bp inserted (P10) allele or the Q allele was associated with the lower coagulation activities. The coagulation activities for the R/Q genotype were significantly lower than those for the R/R genotype and those for the P0/P10 genotype were significantly lower than those for the P0/P0 genotype. Therefore, infants who carry the P10 allele or the Q allele show lower activity of VK-dependent coagulation factors. These infants may have a higher risk of VKDB manifestation.

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Section: Discussionmentioning

confidence: 99%

Section: Blood Sampling and Normotestmentioning

confidence: 99%

Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants

Ito

Goto

Sugiura

et al. 2007

Tohoku J. Exp. Med.

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“…Within the FVII gene eight polymorphisms are known (Herrmann et al, 1998;Herrmann et al, 2000) and three of them influence the level of FVII activity: the insertion polymorphism of the promotor (Marchetti et al, 1993), a tandem repeat unit polymorphism within intron 7 (Marchetti et al, 1991;de Knijff et al, 1994;Mariani et al, 1994;Pinotti et al, 2000) and the Arg353Gln polymorphism of exon 8 (Green et al, 1991). Iacoviello et al (1998) demonstrated in patients with myocardial infarction and family history of cardiovascular diseases, that the Gln353 allele of the Arg353Gln polymorphism and the 7(a) allele of the t a n d e m r e p e a t u n i t p o l y m o r p h i s m o f t h e hypervariable region 4 within intron 7 might have a protective effect on the risk of myocardial infarction.…”

Section: Thrombophilia 40mentioning

confidence: 99%

Geographic and Ethnic Differences in the Prevalence of Thrombophilia

Salazar‐Sánchez¹

2011

Thrombophilia

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“…The F7 mutations À323P0/10 (10-bp insertion) and R353Q (dbSNP, ss#4328232; http://www.ncbi.nlm. nih.gov/SNP/snp_viewBatch) were analyzed by PCR as previously described [11,13]. For the À323P0/10, amplified products were electrophoresed on 8.0% polyacrylamide gel which permitted the identification of the 0-bp allele (204 bp) and the 10-bp allele (214 bp), and hence allowed us to deduce the genotype of the À323P0/10 carriers.…”

Section: Detection Of Fvii Mutationsmentioning

confidence: 99%

“…Several insertion-deletion and single-point mutations in the F7 gene were reported in the promoter region (e.g., À323P0/10) [10][11][12], within the transcribed space (e.g., R353Q point mutation) [13,14] and also within intronic (IVS7) sequences [7,15]. Insofar as plasma FVII levels vary significantly in the general population [16], as they are influenced by environmental and genetic factors [17,18], recent studies have linked the presence of these mutations in the FVII gene with plasma FVII levels [14,15] and activity [19].…”

Section: Introductionmentioning

confidence: 99%

Reduction in coagulation factor VII plasma levels by R353Q but not the −323P0/10 promoter polymorphism in healthy Tunisians

Mtiraoui¹,

Aboud²,

Bouraoui

et al. 2005

Am. J. Hematol.

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The association between the R353Q and -323P0/10 (10-bp insertion in the promoter region at position -323) factor VII mutations and plasma factor VII levels was investigated in a group of 214 healthy Tunisians. The frequency for the Q allele was 0.253 and that for the 10-bp allele was 0.206, and their distribution was variable, with a high prevalence of the 10-bp allele (0.306) seen in North Tunisia and a high prevalence of the Q allele (0.288) seen in the Sahel region. No significant linkage disequilibrium was observed between the two mutations, and the most prevalent haplotype was -323P0/353R (0.589 ± 0.054). Carriers of the R353Q (P < 0.001), but not -323P0/10 (P = 0.088), factor VII mutations had lower mean factor VII serum concentrations. This reduction in mean serum factor VII was more pronounced among homozygous (Q/Q) carriers and among males (49.9%) compared to females (32.7%). Adjusting for all other variables in the linear regression analysis (sex, age, region, smoking, and R353Q and -323P0/10 mutations), heterozygous carriers of the -323P0/10 and R353Q mutations had on average reductions of 10 units (P = 0.005) and 30 units (P < 0.001) in plasma factor VII, respectively, compared to noncarriers, while homozygote carriers of the R353Q (-43.3, P < 0.001), but not carriers of the -323P0/10 (-6.30, P = 0.356), had significantly lower levels of mean plasma factor VII. These data suggest that part of the previously described effects on FVIIc levels associated with the R/Q polymorphism may be explained by genetic variation in the promoter region of the FVII gene. Am.

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A polymorphism in the 5? region of coagulation factor VII gene (F7) caused by an inserted decanucleotide

Abstract: We describe a polymorphism in the 5' region of the coagulation factor VII (FVII) gene, originating from a decanucleotide (CCTATATCCT) insert present in the less frequent allele. This marker can be detected by restriction analysis of polymerase chain reaction products.

Cited by 102 publications

References 4 publications

Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants

Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants

Geographic and Ethnic Differences in the Prevalence of Thrombophilia

Reduction in coagulation factor VII plasma levels by R353Q but not the −323P0/10 promoter polymorphism in healthy Tunisians

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