Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice

Blood

Volumn 114, Issue 26, 2009, Pages 5368-5374

  Shavit, Jordan A ^a   Manichaikul, Ani ^b,d   Lemmerhirt, Heidi L ^a   Broman, Karl W ^b,e   Ginsburg, David ^a,c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d University of Virginia   (United States)

^e UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; VON WILLEBRAND FACTOR;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENOTYPE; INBRED STRAIN; MALE; MOUSE; MVWF5 GENE; MVWF6 GENE; MVWF7 GENE; NONHUMAN; PRIORITY JOURNAL; PROGENY; QUANTITATIVE TRAIT LOCUS; ANIMAL; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE EXPRESSION REGULATION; GENETIC VARIABILITY; GENETICS; HUMAN; MOUSE STRAIN; REGULATORY SEQUENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE EXPRESSION REGULATION; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MICE; MICE, INBRED STRAINS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; REGULATORY ELEMENTS, TRANSCRIPTIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; VON WILLEBRAND FACTOR;

EID: 73949156955     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-07-233213     Document Type: Article

References (46)

1. Vischer UM. von Willebrand factor, endothelial dysfunction, and cardiovascular disease. J Thromb Haemost. 2006;4(6):1186-1193.
2. Koster T, Blann AD, Briët E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet. 1995;345(8943):152-155.
3. Kraaijenhagen RA, Anker PSI, Koopman MMW, et al. High plasma concentration of factor VIII is a major risk factor for venous thromboembolism. Thromb Haemost. 2000;83(1):5-9.
4. Rosendaal FR. High levels of factor VIII and venous thrombosis. Thromb Haemost. 2000;83(1):1-2.
5. Levy GG, Ginsburg D. Getting at the variable expressivity of von Willebrand disease. Thromb Haemost. 2001;86(1):144-148.
6. Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood. 2003;101(6):2089-2093.
7. Vossen CY, Hasstedt SJ, Rosendaal FR, et al. Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. J Thromb Haemost. 2004;2(2):242-247.
8. Souto JC, Almasy L, Borrell M, et al. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation. 2000;101(13):1546-1551.
9. de Lange M, Snieder H, Ariens RA, Spector TD, Grant PJ. The genetics of haemostasis: a twin study. Lancet. 2001;357(9250):101-105.
10. Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet. 1985;37(1):89-101.
11. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand Disease. Blood. 1987;69(6):1691-1695.
12. Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost. 2006;96(5):630-641.
13. Eikenboom J, Van Marion V, Putter H, et al. Link-age analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost. 2006;4(4):774-782.
14. James PD, Paterson AD, Notley C, et al. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost. 2006;4(4):783-792.
15. Lanke E, Johansson AM, Hallden C, Lethagen S. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete link-age to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J Thromb Haemost. 2005;3(12):2656-2663.
16. Goodeve A. Genetics of type 1 von Willebrand disease. Curr Opin Hematol. 2007;14(5):444-449.
17. Lemmerhirt HL, Shavit JA, Levy GG, Cole SM, Long JC, Ginsburg D. Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene. Blood. 2006;108(9):3061-3067.
18. Mohlke KL, Purkayastha AA, Westrick RJ, et al. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell. 1999;96(1):111-120.
19. Haberichter SL, Castaman G, Budde U, et al. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). Blood. 2008;111(10):4979-4985.
20. Millar CM, Riddell AF, Brown SA, et al. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. Thromb Haemost. 2008;99(5):916-924.
21. Lander ES, Botstein D. Mapping mendelian factors underlying quantitative traits using RFLP link-age maps. Genetics. 1989;121(1):185-199.
22. Broman KW, Sen S, Owens SE, Manichaikul A, Southard-Smith EM, Churchill GA. The X chromosome in quantitative trait locus mapping. Genetics. 2006;174(4):2151-2158.
23. Churchill GA, Doerge RW. Empirical threshold values for quantitative trait mapping. Genetics. 1994;138(3):963-971.
24. Sen S, Churchill GA. A statistical framework for quantitative trait mapping. Genetics. 2001;159(1):371-387.
25. Manichaikul A, Dupuis J, Sen S, Broman KW. Poor performance of bootstrap confidence intervals for the location of a quantitative trait locus. Genetics. 2006;174(1):481-489.
26. Ihaka R, Gentleman R. R: a language for data analysis and graphics. J Comput Graph Stat. 1996;5:299-314.
27. Broman KW, Wu H, Sen S, Churchill GA. R/qtl: QTL mapping in experimental crosses. Bioinformatics. 2003;19(7):889-890.
28. Buchner DA, Trudeau M, Meisler MH. SCNM1, a putative RNAsplicing factor that modifies disease severity in mice. Science. 2003;301(5635):967-969.
29. Battey J, Jordan E, Cox D, Dove W. An action plan for mouse genomics. Nat Genet. 1999;21(1):73-75.
30. Waterston RH, Lindblad-Toh K, Birney E, et al. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002;420(6915):520-562.
31. Johnsen JM, Levy GG, Westrick RJ, Tucker PK, Ginsburg D. The endothelial-specific regulatory mutation, Mvwf1, is a common mouse founder allele. Mamm Genome. 2008;19(1):32-40.
32. Lemmerhirt HL, Broman KW, Shavit JA, Ginsburg D. Genetic regulation of plasma von Willebrand factor levels: quantitative trait loci analysis in a mouse model. J Thromb Haemost. 2007;5(2):329-335.
33. Nichols WC, Lyons SE, Harrison JS, Cody RL, Ginsburg D. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis. Proc Natl Acad Sci U S A. 1991;88(9):3857-3861.
34. The Jackson Laboratory. Mammalian Orthology. http://www.informatics.jax. org/orthology.shtml. Accessed January 29, 2009.
35. Souto JC, Almasy L, Soria JM, et al. Genomewide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Thromb Haemost. 2003;89(3):468-474.
36. Di Paola J, Rickard M, Murray J, Burns T, Wang K, Shapiro A. Agenome-wide linkage scan of a large Amish pedigree with von Willebrand disease (VWD) identified several chromosomal regions that may contain potential modifiers of von Willebrand factor (VWF) levels and disease variability [abstract]. Blood. 2006;108(11):Abstract 176.
37. Andrew M, Paes B, Milner R, et al. Development of the human coagulation system in the full-term infant. Blood. 1987;70(1):165-172.
38. Cunningham MJ, Sankaran VG, Nathan DG, Orkin SH. The thalassemias. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders/Elsevier; 2009:1015-1108.
39. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007;109(1):112-121.
40. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109(1):145-154.
41. Bernat JA, Crawford GE, Ogurtsov AY, Collins FS, Ginsburg D, Kondrashov AS. Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. Hum Mol Genet. 2006;15(13):2098-2105.
42. Kleinschmidt AM, Nassiri M, Stitt MS, et al. Sequences in intron 51 of the von Willebrand factor gene target promoter activation to a subset of lung endothelial cells in transgenic mice. J Biol Chem. 2008;283(5):2741-2750.
43. Hough C, Cameron CL, Notley CR, et al. Influence of a GT repeat element on shear stress responsiveness of the VWF gene promoter. J Thromb Haemost. 2008;6(7):1183-1190.
44. Ginsburg D, Bowie EJW. Molecular genetics of von Willebrand disease. Blood. 1992;79(10):2507-2519.
45. Nichols WC, Ginsburg D. von Willebrand disease. Medicine (Baltimore). 1997;76(1):1-20.
46. Johnsen JM, Teschke M, Pavlidis P, et al. Selection on cis-regulatory variation at B4galnt2 and its influence on von Willebrand factor in house mice. Mol Biol Evol. 2009;26(3):567-578.