Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population

PLoS ONE

Volumn 7, Issue 4, 2012, Pages

  Tang, Liang ^a,b,c   Guo, Tao ^a,b,c   Yang, Rui ^a,b,c   Mei, Heng ^a,b,c   Wang, Huafang ^a,b,c   Lu, Xuan ^a,b,c   Yu, Jianming ^a,b,c   Wang, Qingyun ^a,b,c   Hu, Yu ^a,b,c  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b Hubei Clinical and Research Center of Thrombosis and Hemostasis   (China)

^c BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; BRAIN ISCHEMIA; CASE CONTROL STUDY; CHINESE; COMPUTER ANALYSIS; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; FEMALE; GENE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC RISK; HETEROZYGOTE; HUMAN; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMORPHISM PHENOTYPING; PROC GENE; PROTEIN C DEFICIENCY; RNA SPLICING; SEQUENCE ALIGNMENT; SORTING INTOLERANT FROM TOLERANT; VEIN THROMBOSIS; AMINO ACID SEQUENCE; ASIAN; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PEDIGREE;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; HUMANS; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PROTEIN C; PROTEIN C DEFICIENCY; SEQUENCE ALIGNMENT; VENOUS THROMBOSIS; YOUNG ADULT;

EID: 84860205974     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0035773     Document Type: Article

References (49)

1. Esmon CT, (2003) The protein C pathway. Chest 124: 26S-32S.
2. Dahlbäck B, Villoutreix BO, (2003) Molecular recognition in the protein C anticoagulant pathway. J Thromb Haemost 1: 1525-34.
3. Marlar RA, Kleiss AJ, Griffin JH, (1982) Mechanism of action of human activated protein C, a thrombin-dependent anticoagulant enzyme. Blood 59: 1067-72.
4. Fisher CL, Greengard JS, Griffin JH, (1994) Models of the serine protease domain of the human antithrombotic plasma factor activated protein C and its zymogen. Protein Sci 3: 588-99.
5. Perera L, Foley C, Darden TA, Stafford D, Mather T, et al. (2000) Modeling zymogen protein C. Biophys J 79: 2925-43.
6. Kisiel W, (1979) Human plasma protein C: isolation, characterization, and mechanism of activation by alpha-thrombin. J Clin Invest 64: 761-9.
7. Dahlbäck B, Villoutreix BO, (2005) Regulation of blood coagulation by the protein C anticoagulant pathway. Novel insights into structure-function relationships andmolecular recognition. Arterioscler Thromb Vasc Biol 25: 1311-20.
8. Mosnier LO, Zlokovic BV, Griffin JH, (2007) The cytoprotective protein C pathway. Blood 109: 3161-72.
9. Foster DC, Yoshitake S, Davie EW, (1985) The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci U S A 82: 4673-7.
10. Plutzky J, Hoskins JA, Long GL, Crabtree GR, (1986) Evolution and organization of the human protein C gene. Proc Natl Acad Sci U S A 83: 546-50.
11. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, et al. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369: 64-7.
12. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, (1996) A common genetic variation in the 3′- untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88: 3698-703.
13. Bounameaux H, Rosendaal FR, (2011) Venous thromboembolism: why does ethnicity matter? Circulation 123: 2189-91.
14. Roberts LN, Patel RK, Arya R, (2009) Venous thromboembolism and ethnicity. Br J Haematol 146: 369-83.
15. Suehisa E, Nomura T, Kawasaki T, Kanakura Y, (2001) Frequency of natural coagulation inhibitor (antithrombin III, protein C and protein S) deficiencies in Japanese patients with spontaneous deep vein thrombosis. Blood Coagul Fibrinolysis 12: 95-9.
16. Koster T, Rosendaal FR, Briët E, van der Meer FJ, Colly LP, et al. (1995) Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study). Blood 85: 2756-61.
17. Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, et al. (2000) Molecular genetic analysis of severe protein C deficiency. Hum Genet 106: 646-53.
18. Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, et al. (1993) Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 341: 134-8.
19. den Dunnen JT, Antonarakis SE, (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15: 7-12.
20. Taschner PE, den Dunnen JT, (2011) Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 32: 507-11.
21. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE, (2008) Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29: 6-13.
22. Kumar P, Henikoff S, Ng PC, (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-81.
23. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-9.
24. Wang M, Marín A, (2006) Characterization and prediction of alternative splice sites. Gene 366: 219-27.
25. Dogan RI, Getoor L, Wilbur WJ, Mount SM, (2007) SplicePort-an interactive splice-site analysis tool. Nucleic Acids Res 35: W285-91.
26. Kiefer F, Arnold K, Künzli M, Bordoli L, Schwede T, (2009) The SWISS-MODEL Repository and associated resources. Nucleic Acids Res 37: D387-92.
27. Schmidt AE, Padmanabhan K, Underwood MC, Bode W, Mather T, et al. (2002) Thermodynamic linkage between the S1 site, the Na+ site, and the Ca2+ site in the protease domain of human activated protein C (APC). Sodium ion in the APC crystal structure is coordinated to four carbonyl groups from two separate loops. J Biol Chem 277: 28987-95.
28. Dupont WD, Plummer WD Jr, (1990) Power and sample size calculations. A review and computer program. Control Clin Trials 11: 116-28.
29. Reitsma PH, Poort SR, Allaart CF, Briët E, Bertina RM, (1991) The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. Blood 78: 890-4.
30. Gandrille S, Aiach M, (1995) Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies. Blood 86: 2598-605.
31. Grundy CB, Schulman S, Tengborn L, Kakkar VV, Cooper DN, (1992) Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. Hum Genet 89: 685-6.
32. Poort SR, Pabinger-Fasching I, Mannhalter C, Reitsma PH, Bertina RM, (1993) Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. Blood Coagul Fibrinolysis 4: 273-80.
33. Miyata T, Sakata T, Zheng YZ, Tsukamoto H, Umeyama H, et al. (1996) Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building. Thromb Haemost 76: 302-11.
34. Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, et al. (1995) Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 73: 876-89.
35. Foster DC, Rudinski MS, Schach BG, Berkner KL, Kumar AA, et al. (1987) Propeptide of human protein C is necessary for gamma-carboxylation. Biochemistry 26: 7003-11.
36. Beckmann RJ, Schmidt RJ, Santerre RF, Plutzky J, Crabtree GR, et al. (1985) The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs. Nucleic Acids Res 13: 5233-47.
37. Greengard JS, Fisher CL, Villoutreix B, Griffin JH, (1994) Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain. Proteins 18: 367-80.
38. Singh G, Lykke-Andersen J, (2003) New insights into the formation of active nonsense-mediated decay complexes. Trends Biochem Sci 28: 464-6.
39. Barash Y, Calarco JA, Gao W, Pan Q, Wang X, et al. (2010) Deciphering the splicing code. Nature 465: 53-9.
40. Conne B, Stutz A, Vassalli JD, (2000) The 3′ untranslated region of messenger RNA: A molecular 'hotspot' for pathology? Nat Med 6: 637-41.
41. Mignone F, Gissi C, Liuni S, Pesole G, (2001) Untranslated regions of mRNAs. Genome Biol 3: REVIEWS0004.
42. Wacey AI, Pemberton S, Cooper DN, Kakkar VV, Tuddenham EG, (1993) A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency. Br J Haematol 84: 290-300.
43. Tait RC, Walker ID, Reitsma PH, Islam SI, McCall F, et al. (1995) Prevalence of protein C deficiency in the healthy population. Thromb Haemost 73: 87-93.
44. Dahlbäck B, (2008) Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood 112: 19-27.
45. Corral J, Hernandez-Espinosa D, Soria JM, Gonzalez-Conejero R, Ordonez A, et al. (2007) Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 109: 4258-63.
46. Zhu T, Ding Q, Bai X, Wang X, Kaguelidou F, et al. (2011) Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group. Haematologica 96: 1033-40.
47. Miletich J, Sherman L, Broze G Jr, (1987) Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 317: 991-6.
48. Sakata T, Okamoto A, Mannami T, Matsuo H, Miyata T, (2004) Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Thromb Haemost 2: 528-30.
49. Yang Y, Liang L, Zhai Z, He H, Xie W, et al. (2011) Pulmonary Embolism Incidence and Fatality Trends in Chinese Hospitals from 1997 to 2008: A Multicenter Registration Study. PLoS One 6: e26861.