Exclusion of the α2 subunit of platelet-activating factor acetyl-hydrolase 1b (PAFAHIB2) as a prothrombotic gene in a protein C-deficient kindred and population-based case-control sample

Thrombosis and Haemostasis

Volumn 98, Issue 3, 2007, Pages 587-592

  Hasstedt, Sandra J ^a   Scott, Bruce T ^b   Rosendaal, Frits R ^c   Callas, Peter W ^d   Vossen, Carla Y ^c   Long, George L ^b   Bovill, Edwin G ^b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT   (United States)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

Author keywords

Genetics; Likelihood; Linkage

Indexed keywords

1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; 1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE 1B ALPHA2 SUBUNIT; PROTEIN C; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; MICROTUBULE ASSOCIATED PROTEIN; PAFAH1B2 PROTEIN, HUMAN;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CHROMOSOME 10P; CHROMOSOME 11Q; CHROMOSOME 18P; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN GENOME; MAJOR CLINICAL STUDY; MALE; PEDIGREE; POPULATION BASED CASE CONTROL STUDY; PREDICTION; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; RISK FACTOR; THROMBOEMBOLISM; THROMBOPHILIA; THROMBOSIS; ADOLESCENT; CASE CONTROL STUDY; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 18; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HEALTH SURVEY; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; RISK; RISK ASSESSMENT; UNITED STATES; VEIN THROMBOSIS;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 18; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION; ODDS RATIO; PEDIGREE; POPULATION SURVEILLANCE; PROTEIN C; PROTEIN C DEFICIENCY; RISK ASSESSMENT; RISK FACTORS; VENOUS THROMBOSIS; VERMONT;

EID: 34548695207     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-02-0134     Document Type: Article

References (50)

1. Bovill EG, Hasstedt SJ, Leppert MF, et al. Hereditary thrombophilia as a model for multigenic disease. Thromb Haemost 1999; 82: 662-666.
2. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353: 1167-1173.
3. Zöller B, Garcia de Frutos P, Hillarp A, et al. Thrombophilia as a multigenic disease. Haematologica 1999;84:59-70.
4. Vossen CY, Conard J, Fontcuberta J, et al. Risk of a first thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). J Thromb Haemost 2005; 3: 459-464.
5. Crowther MA, Kelton JG. Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system. Ann Intern Med 2003; 138: 128-134.
6. Wu O, Robertson L, Langhorne P et al. Oral contraceptives, hormone replacement therapy, thrombophilias and risk of venous thromboembolism: a systematic review. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) Study. Thromb Haemost 2005; 94: 17-25.
7. Hoppe B, Tolou F, Dorner T, et al. Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population. Thromb Haemost 2006; 96: 465-470.
8. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
9. Poort SR, Rosendaal FR, Reitsma PH, et al. 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 1996; 88: 3698-3703.
10. Bertina RM. Factor V Leiden and other coagulation factor mutations affecting thrombotic risk. Clin Chem 1997; 43: 1678-1683.
11. Tait RC, Walker ID, Islam SI, et al. Influence of demographic factors on antithrombin III activity in a healthy population. Br J Haematol 1993; 84: 476-480.
12. Miletich J, Sherman L, Broze G Jr. Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987; 317: 991-996.
13. Dykes AC, Walker ID, McMahon AD, et al. A study of protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state. Br J Haematol 2001; 113: 636-641.
14. Reitsma PH. Protein C deficiency: summary of the 1995 database update. Nucleic Acids Res 1996; 24: 157-159.
15. Miletich JP Prescott SM, White R, et al. Inherited predisposition to thrombosis. Cell 1993; 72: 477-480.
16. Tomczak JA, Ando RA, Sobel HG, et al. Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis. Thromb Res 1994; 74: 243-254.
17. Bovill EG, Bauer KA, Dickerman JD, et al. The clinical spectrum of heterozygous protein C deficiency in a large New England kindred. Blood 1989; 73: 712-717.
18. Hasstedt SJ, Bovill EG, Callas PW, et al. An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. Am J Hum Genet 1998; 63: 569-576.
19. Hasstedt SJ, Scott BT, Callas PW et al. Genome scan of venous thrombosis in a pedigree with protein C deficiency. J Thromb Haemost 2004; 2: 868-873.
20. Moro F, Arrigo G, Fogli A, et al. The β and γ subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAHIB2 and PAFAHIB3) map to chromosome 11q23 and l9q13.1, respectively. Genomics 1998; 51: 157-159.
21. Ho YS, Swenson L, Derewenda U, et al. Brain acetylhydrolase that inactivates platelet-activating factoris a G-protein-like trimer. Nature 1997; 385: 89-93.
22. Adachi H, Tsujimoto M, Hattori M, et al. Differential tissue distribution of the β- and γ-subunits of human cytosolic platelet-activating factor acetylhydrolase (isoform I). Biochem Biophys Res Commun 1997; 233: 10-13.
23. Prescott SM, McIntyre TM, Zimmerman GA, et al. Sol Sherry lecture in thrombosis: molecular events in acute inflammation. Arterioscler Thromb Vasc Biol 2002; 22: 727-733.
24. Schlondorff D, Neuwirth R. Platelet-activating factor and the kidney. Am J Physiol 1986; 251: F1-11.
25. Zimmerman GA, McIntyre TM, Prescott SM, et al. The platelet-activating factor signaling system and its regulators in syndromes of inflammation and thrombosis. Crit Care Med 2002; 30: S334-301.
26. Reitsma PH, Rosendaal FR. Activation of innate immunity in patients with venous thrombosis: the Leiden Thrombophilia. Study J Thromb Haemost 2004; 2: 619-622.
27. Chirinos JA, Heresi G, Velasquez H, et al. Elevation of endothelial microparticles, platelets, and leukocyte activation in patients with venous thromboembolism. J Am Coll Cardiol 2005; 45: 1467-1471.
28. Downing LJ, Strieter RM, Kadell AM, et al. IL-10 regulates thrombus-induced vein wall inflammation and thrombosis. J Immunol 1998; 161: 1471-1476.
29. Myers D, Wrobleski S, Londy F, et al. New and effective treatment of experimentally induced venous thrombosis with anti-inflammatory rPSGL-Ig. Thromb Haemost 2002; 87: 374-382.
30. Eppihimer MJ, Schaub RG. P-Selectin-dependent inhibition of thrombosis during venous stasis. Arterioscler Thromb Vasc Biol 2000; 20: 2483-2488.
31. Tunc SE, Aksu K, Keser G, et al. Platelet-activating factor and P-selectin activities in thrombotic and non-thrombotic Behcet's patients. Rheumatol Int 2005; 25: 326-331.
32. Seth P, Kumari R, Dikshit M, et al. Effect of platelet activating factor antagonists in different models of thrombosis. Thromb Res 1994; 76: 503-512.
33. Bernat A, Herbert JM. Effect of various drugs on adriamycin-enhanced venous thrombosis in the rat: importance of PAF. Thromb Res 1994; 75: 91-97.
34. Herbert JM, Corseaux D, Lale A, et al. Hypoxia primes endotoxin-induced tissue factor expression in human monocytes and endothelial cells by a PAF-dependent mechanism. J Cell Physiol 1996; 169: 330-339.
35. van de Wouwer M, Collen D, Conway EM. Thrombomodulin-protein C-EPCR system: integrated to regulate coagulation and inflammation. Arterioscler Thromb Vasc Biol 2004; 24: 1374-1381
36. Heinemeyer T, Wingender E, Reuter I, et al. Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 1998; 26: 362-367.
37. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet 1996; 58: 1323-1337.
38. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE: Mega2, a data-handling program for facilitating genetic linkage and association analyses. Am J Hum Genet 1999; 65: A436.
39. Hasstedt SJ. jPAP: Document-driven software for genetic analysis. Genet Epidemiol 2005; 29: 255.
40. Self SG, Liang K-Y Asymptotic properties of maximum likelihood estimators and likelihood ratio tests under nonstandard conditions. J Am Stat Assoc 1987; 82: 605-610.
41. Elston RC, George VT. Age of onset, age at examination, and other covariates in the analysis of family data. Genet Epidemiol 1989; 6: 217-220.
42. Schaid DJ, McDonnell SK, Blute ML, et al. Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet 1998; 62: 1425-1438.
43. Cui JS, Spurdle AB, Southey MC, et al. Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer. Genet Epidemiol 2003; 24: 161-172.
44. Koster T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to a poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-1506.
45. van der Meer FJ, Koster T, Vandenbroucke JP, Briët E, Rosendaal FR. The Leiden Thrombophilia Study (LETS). Thromb Haemost 1997; 78: 631-635.
46. Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet 1955; 19: 251-253.
47. Ness SA. Myb binding proteins: regulators and cohorts in transformation. Oncogene 1999; 13: 3039-3046.
48. Kurokawa M, Hirai H. Role of AML1/Runx1 in the pathogenesis of hernatological malignancies. Cancer Sci 2003; 94: 841-846.
49. Souto JC, Blanco-Vaca E Soria JM, et al. A genomewide exploration suggests a new candidate gene at chromosome 11q23 as the major determinant of plasma homocysteine levels: results from the GAIT project. Am J Hum Genet 2005; 76: 925-933.
50. Cattaneo M. Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 1999; 81: 165-176.