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Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians.
Am J Hematol. 2005 May; 79(1):11-6.AJ

Abstract

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) see 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 mutation 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.

Authors+Show Affiliations

Hematological and Autoimmune Diseases Research Unit, Faculté de Pharmacie de Monastir, Université du Centre, Tunisia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15952268

Citation

Mtiraoui, Nabil, et al. "Reduction in Coagulation Factor VII Plasma Levels By R353Q but Not the -323P0/10 Promoter Polymorphism in Healthy Tunisians." American Journal of Hematology, vol. 79, no. 1, 2005, pp. 11-6.
Mtiraoui N, Aboud N, Bouraoui H, et al. Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians. Am J Hematol. 2005;79(1):11-6.
Mtiraoui, N., Aboud, N., Bouraoui, H., Haizem, S., Gris, J. C., Busson, M., Tamim, H., Almawi, W. Y., & Mahjoub, T. (2005). Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians. American Journal of Hematology, 79(1), 11-6.
Mtiraoui N, et al. Reduction in Coagulation Factor VII Plasma Levels By R353Q but Not the -323P0/10 Promoter Polymorphism in Healthy Tunisians. Am J Hematol. 2005;79(1):11-6. PubMed PMID: 15952268.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians. AU - Mtiraoui,Nabil, AU - Aboud,Nesrine, AU - Bouraoui,Hatem, AU - Haizem,Sondes, AU - Gris,Jean Christophe, AU - Busson,Marc, AU - Tamim,Hala, AU - Almawi,Wassim Y, AU - Mahjoub,Touhami, PY - 2005/6/15/pubmed PY - 2005/6/29/medline PY - 2005/6/15/entrez SP - 11 EP - 6 JF - American journal of hematology JO - Am J Hematol VL - 79 IS - 1 N2 - 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) see 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 mutation 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. SN - 0361-8609 UR - https://www.unboundmedicine.com/medline/citation/15952268/Reduction_in_coagulation_factor_VII_plasma_levels_by_R353Q_but_not_the__323P0/10_promoter_polymorphism_in_healthy_Tunisians_ L2 - https://doi.org/10.1002/ajh.20328 DB - PRIME DP - Unbound Medicine ER -