The Prothrombin 20210A Allele Is the Most Prevalent Genetic Risk Factor for Venous Thromboembolism in the Spanish Population

1998 ◽  
Vol 80 (09) ◽  
pp. 366-369 ◽  
Author(s):  
Inma Coll ◽  
Dolors Llobet ◽  
Elisabeth del Río ◽  
Arturo Oliver ◽  
José Mateo ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Genetic Risk ◽  
Recurrent Events ◽  
Geographical Area ◽  
Genetic Risk Factor ◽  
Prothrombin Gene ◽  
Heterozygous Carriers ◽  
Contraceptive Treatment ◽  
Prothrombin 20210A

SummaryWe investigated the prevalence of the new recently reported mutation in the prothrombin gene (20210 A) in a sample of 116 unrelated patients with venous thromboembolism. We found 20 heterozygous carriers (17.2%, CI 95% 10.4-21.1). In comparison, we observed 13 carriers among 201 healthy unmatched controls (6.5%, CI 3.5-10.8). The 20210 A mutation seems to increase the risk of venous thrombosis 3-fold (odds ratio 3.1, 95% CI 1.4-6.6). Considering only patients with a first event (n = 62) the OR was 2.0 (p = 0.18, NS) while those with recurrent events (n = 54) showed an OR of 5.9 (95% CI 2.5-14.4). A majority of heterozygous patients (55%) presented a second thrombophilic factor and 60% of affected females had their first event before 30 years of age, while on oral contraceptive treatment. The prevalence found in this study for healthy people is the highest reported to date. The 20210 A variant appears to be the most prevalent genetic risk factor among patients with thrombosis in our geographical area.

Protein S K196E mutation, a genetic risk factor for venous thromboembolism, is limited to Japanese

2013 ◽  
Vol 132 (2) ◽  
pp. 314-315 ◽  
Author(s):  
Wanyang Liu ◽  
Tong Yin ◽  
Hiroko Okuda ◽  
Kouji H. Harada ◽  
Yang Li ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Genetic Risk ◽  
Protein S ◽  
Genetic Risk Factor

scholarly journals ELISA-Based Detection System for Protein S K196E Mutation, a Genetic Risk Factor for Venous Thromboembolism

PLoS ONE ◽  
2015 ◽  
Vol 10 (7) ◽  
pp. e0133196 ◽  
Author(s):  
Keiko Maruyama ◽  
Masashi Akiyama ◽  
Koichi Kokame ◽  
Akiko Sekiya ◽  
Eriko Morishita ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Genetic Risk ◽  
Detection System ◽  
Protein S ◽  
Genetic Risk Factor

A Mutation in Plasma Platelet-activating Factor Acetylhydrolase (Val279Phe) Is a Genetic Risk Factor for Cerebral Hemorrhage but not for Hypertension

1998 ◽  
Vol 80 (09) ◽  
pp. 372-375 ◽  
Author(s):  
Hidemi Yoshida ◽  
Tadaatsu Imaizumi ◽  
Koji Fujimoto ◽  
Hiroyuki Itaya ◽  
Makoto Hiramoto ◽  
...  
Keyword(s):  
Risk Factor ◽  
Genetic Risk ◽  
Platelet Activating Factor ◽  
Vascular Diseases ◽  
Genetic Risk Factor ◽  
Brain Hemorrhage ◽  
Platelet Activating Factor Acetylhydrolase ◽  
Paf Acetylhydrolase ◽  
Polymerase Chain ◽  
The Difference

SummaryPlatelet-activating factor (PAF) acetylhydrolase is an enzyme that inactivates PAF. Deficiency of this enzyme is caused by a missense mutation in the gene. We previously found a higher prevalence of this mutation in patients with ischemic stroke. This fact suggests that the mutation might enhance the risk for stroke through its association with hypertension. We have addressed this hypothesis by analyzing the prevalence of the mutation in hypertension. We studied 138 patients with essential hypertension, 99 patients with brain hemorrhage, and 270 healthy controls. Genomic DNA was analyzed for the mutant allele by the polymerase-chain reaction. The prevalence of the mutation was 29.3% (27.4% heterozygotes and 1.9% homozygotes) in controls and 36.2% in hypertensives and the difference was not significant. The prevalence in patients with brain hemorrhage was significantly higher than the control: 32.6% heterozygotes and 6.1% homozygotes (p <0.05). PAF acetylhydrolase deficiency may be a genetic risk factor for vascular diseases.

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