A case control study of deep venous thrombosis in relation to factor V G1691A (Leiden) and A4070G (HR2 Haplotype) polymorphisms

被引：8

作者：

Bouaziz-Borgi, Lobna ^{[2
]}

Nguyen, Philipe ^{[3
]}

Hezard, Nathahe ^{[3
]}

Musharrafieh, Umayya ^{[4
]}

Almawi, Wassim Y. ^{[1
]}

Ou, Touharni Mah ^{[2
]}

机构：

[1] Arabian Gulf Univ, Dept Med Biochem, Manama, Bahrain

[2] Univ Monastir, Fac Pharm, Monastir, Tunisia

[3] CHU Robert Debre, Reims, France

[4] Amer Univ Beirut, Dept Family Med, Beirut, Lebanon

来源：

EXPERIMENTAL AND MOLECULAR PATHOLOGY | 2007年 / 83卷 / 03期

关键词：

factor V; deep venous thrombosis; single nucleotide polymorphisms;

D O I：

10.1016/j.yexmp.2007.04.006

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Activated protein C resistance (APCR) is a significant risk factor for venous thromboembolism (VTE), with the factor V (FV) G1691A (Leiden) mutation accounting for the majority of inherited APCR cases. An additional FV polymorphism, A4074G (FV-HR2), reportedly increased VTE risk by some, but not all groups. We determined the prevalence of FV-Leiden and FV-HR2 SNPs in 126 patients with deep venous thrombosis (DVT), and 197 control subjects. Frequencies of FV-Leiden A and HR2 G alleles, together with FV-Leiden G/A and A/A (but not HR2 A/G) genotypes were significantly higher among patients. While no significant linkage disequilibrium was noted between FV 1691 A and 4070G or A alleles, significantly higher prevalence of single-mutant 1691 G/4070G and 1691 A/4070A haplotypes were seen in patients. FV Leiden and FV HR2 haplotype are independent risk factors for DVT, and their coinheritance does not seem to increase significantly DVT risk imparted by either. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：480 / 483

页数：4

共 23 条

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