Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 9, 2006, Pages 2010-2013

  Kimura, R ^a   Sakata, T ^a   Kokubo, Y ^a   Okamoto, A ^a   Okayama, A ^a   Tomoike, H ^a   Miyata, Toshiyuki ^a  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

Deep vein thrombosis; Missense mutation; Protein S

Indexed keywords

ACTIVATED PROTEIN C; MUTANT PROTEIN; PROTEIN S;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; ENVIRONMENTAL FACTOR; FEMALE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; PROTEIN FUNCTION; WILD TYPE;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; EPIDEMIOLOGY, MOLECULAR; FEMALE; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR EPIDEMIOLOGY; MUTATION, MISSENSE; PROTEIN S; SEX FACTORS;

EID: 33747152200     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.02071.x     Document Type: Article

References (21)

1. Dahlback B. Blood coagulation. Lancet 2000; 355: 1627-32.
2. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlback B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 1. Thromb Haemost 1996; 76: 651-62.
3. Bucciarelli P, Rosendaal FR, Tripodi A, Mannucci PM, De Stefano V, Palareti G, Finazzi G, Baudo F, Quintavalla R. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: A multicenter collaborative family study. Arterioscler Thromb Vasc Biol 1999; 19: 1026-33.
4. Kinoshita S, Iida H, Inoue S, Watanabe K, Kurihara M, Wada Y, Tsuda H, Kang D, Hamasaki N. Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin Biochem 2005; 38: 908-15.
5. Kimura R, Honda S, Kawasaki T, Tsuji H, Madoiwa S, Sakata Y, Kojima T, Murata M, Nishigami K, Chiku M, Hayashi T, Kokubo Y, Okayama A, Tomoike H, Ikeda Y, Miyata T. Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood 2006; 107: 1737-8.
6. Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima: Abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood 1994; 83: 683-90.
7. Hayashi T, Nishioka J, Suzuki K. Molecular mechanism of the dysfunction of protein S (Tokushima) (Lys155-> Glu) for the regulation of the blood coagulation system. Biochim Biophys Acta 1995; 1272: 159-67.
8. Hayashi T, Nishioka J, Suzuki K. Characterization of dysfunctional protein S-Tokushima (K155-> E) in relation to the molecular interactions required for the regulation of blood coagulation. Pol J Pharmacol 1996; 48: 221-3.
9. Shigekiyo T, Uno Y, Kawauchi S, Saito S, Hondo H, Nishioka J, Hayashi T, Suzuki K. Protein S Tokushima: An abnormal protein S found in a Japanese family with thrombosis. Thromb Haemost 1993; 70: 244-6.
10. Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, Saito H. A phenotypically neutral dimorphism of protein S: The substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res 1993; 70: 395-403.
11. Miyata T, Kimura R, Kokubo Y, Sakata T. Genetic risk factors for deep vein thrombosis in Japanese, importance of protein S K196E mutation. Int J Hematol 2006; 83: 217-23.
12. Sakata T, Okamoto A, Mannami T, Tomoike H, Miyata T. Prevalence of protein S deficiency in the Japanese general population: The Suita Study. J Thromb Haemost 2004; 2: 1012-3.
13. Okamoto A, Sakata T, Mannami T, Baba S, Katayama Y, Matsuo H, Yasaka M, Minematsu K, Tomoike H, Miyata T. Population-based distribution of plasminogen activity and estimated prevalence and relevance to thrombotic diseases of plasminogen deficiency in the Japanese: The Suita Study. J Thromb Haemost 2003; 1: 2397-403.
14. Henkens CM, Bom VJ, Van der Schaaf W, Pelsma PM, Sibinga CT, de Kam PJ, van der Meer J. Plasma levels of protein S, protein C, and factor X: effects of sex, hormonal state and age. Thromb Haemost 1995; 74: 1271-5.
15. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
16. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
17. Zivelin A, Griffin JH, Xu X, Pabinger I, Samama M, Conard J, Brenner B, Eldor A, Seligsohn U. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997; 89: 397-402.
18. Fujimura H, Kambayashi J, Monden M, Kato H, Miyata T. Coagulation factor V Leiden mutation may have a racial background. Thromb Haemost 1995; 74: 1381-2.
19. Rezende SM, Simmonds RE, Lane DA. Coagulation, inflammation, and apoptosis: Different roles for protein S and the protein S-C4b binding protein complex. Blood 2004; 103: 1192-201.
20. Almasy L, Soria JM, Souto JC, Coll I, Bacq D, Faure A, Mateo J, Borrell M, Munoz X, Sala N, Stone WH, Lathrop M, Fontcuberta J, Blangero J. A quantitative trait locus influencing free plasma protein S levels on human chromosome 1q: Results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project. Arterioscler Thromb Vasc Biol 2003; 23: 508-11.
21. Garcia de Frutos P, Alim RI, Hardig Y, Zoller B, Dahlback B. Differential regulation of alpha and beta chains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S. Blood 1994; 84: 815-22.