The association of protein S Tokushima-K196E with a risk of deep vein thrombosis.
Deep vein thrombosis (DVT) is a multifactorial disease caused by acquired risk factors such as a bed rest, surgery and malignancies. Although the factor V Leiden and the prothrombin-20210G>A mutation do not exist in Japanese populations, a mutation in protein S (PS) Tokushima (K196E) has been attracting attention in Japan. In this study, the genetic contribution of PS Tokushima (K196E) was evaluated in 60 Japanese patients with thrombosis in comparison to 234 healthy volunteers and 88 patients without thrombosis. Genes associated with the response to warfarin, cytochrome P450 2C9 (CYP2C9), vitamin K epoxide reductase complex subunit 1 (VKORC1), and γ-glutamyl carboxylase (GGCX) were also investigated simultaneously. PS Tokushima (K196E) was detected in 6 patients with thrombosis, in 3 without thrombosis and in 3 healthy volunteers, indicating that there is a high frequency of the PS Tokushima (K196E). There were no significant differences of CYP2C9, VKORC1 or GGCX between the patients with and without DVT. Therefore, PS Tokushima (K196E) is an important genetic risk factor for DVT in the Japanese population.
Ikejiri
Makoto
M
Central Laboratory, Mie University Graduate School of Medicine, Tsu, Japan.
Wada
Hideo
H
Sakamoto
Yuko
Y
Ito
Naohiko
N
Nishioka
Junji
J
Nakatani
Kaname
K
Tsuji
Akihiro
A
Yamada
Norikazu
N
Nakamura
Mashio
M
Ito
Masaaki
M
Nobori
Tsutomu
T
D016022:Case-Control Studies; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D007564:Japan / Q000453:epidemiology; D020125:Mutation, Missense; D017293:Protein S / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
D017293:Protein S; C083863:protein S Tokushima
Thromb Res. 2007;120(2):181-6
17049586
Br J Haematol. 2004 Jun;125(5):647-54
15147381
Blood Coagul Fibrinolysis. 2001 Mar;12(2):95-9
11302483
Nature. 1994 May 5;369(6475):64-7
8164741
J Thromb Haemost. 2004 Jun;2(6):1012-3
15140145
N Engl J Med. 1995 Apr 6;332(14):912-7
7877648
Thromb Res. 1995 Jan 1;77(1):1-43
7701473
J Hum Genet. 2006;51(3):249-253
16432637
Blood. 2000 Mar 15;95(6):1935-41
10706858
Br J Haematol. 2004 Jul;126(2):219-25
15238143
Blood. 2006 Feb 15;107(4):1737-8
16461766
Thromb Res. 2000 Dec 1;100(5):367-71
11150577
Ann Clin Biochem. 1999 Jul;36 ( Pt 4):423-32
10456203
Thromb Haemost. 2000 Nov;84(5):918
11127877
Pharmacogenet Genomics. 2006 Feb;16(2):101-10
16424822
Blood. 1994 Feb 1;83(3):683-90
8298131
Biochim Biophys Acta. 1995 Dec 12;1272(3):159-67
8541347
Thromb Haemost. 1991 Jul 12;66(1):49-61
1833851
Clin Biochem. 2005 Oct;38(10):908-15
15978566