Genetic regulation of plasma von Willebrand factor levels: Quantitative trait loci analysis in a mouse model

Journal of Thrombosis and Haemostasis

Volumn 5, Issue 2, 2007, Pages 329-335

  Lemmerhirt, H L ^a   Broman, K W ^b   Shavit, J A ^a   Ginsburg, David ^a,c,d  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Mvwf modifier; Quantitative trait loci; Von Willebrand factor

Indexed keywords

VON WILLEBRAND FACTOR;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 1; CHROMOSOME 13; CHROMOSOME 4; CHROMOSOME 5; CHROMOSOME 6; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISEASE MODEL; FEMALE; GENE MAPPING; GENETIC ANALYSIS; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC REGULATION; GENETIC VARIABILITY; GENOTYPE; IDIOPATHIC DISEASE; INBRED STRAIN; MALE; MOUSE; MOUSE STRAIN; NONHUMAN; ORTHOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; QUANTITATIVE TRAIT LOCUS; SEQUENCE HOMOLOGY; SYNTENY; THROMBOPHILIA; VON WILLEBRAND DISEASE;

ANIMALS; CHROMOSOMES, MAMMALIAN; GENE EXPRESSION REGULATION; INHERITANCE PATTERNS; MICE; MICE, MUTANT STRAINS; MODELS, ANIMAL; QUANTITATIVE TRAIT LOCI; VON WILLEBRAND FACTOR;

EID: 33846430575     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02325.x     Document Type: Article

References (44)

1. Nichols WC, Ginsburg D. Willebrand disease. Medicine 1997; 76: 1-20.
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: 152-5.
3. Kraaijenhagen RA, in't Anker PS, Koopman MM, Reitsma PH, Prins MH, van den Ende A, Büller HR. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 2000; 83: 5-9.
4. Rosendaal FR. High levels of factor VIII and venous thrombosis. Thromb Haemost 2000; 83: 1-2.
5. Vossen CY, Hasstedt SJ, Rosendaal FR, Callas PW, Bauer KA, Broze GJ, Hoogendoorn H, Long GL, Scott BT, Bovill EG. Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. J.Thromb Haemost 2004; 2: 242-7.
6. Souto JC, Almasy L, Borrell M, Gari M, Martinez E, Mateo J, Stone WH, Blangero J, Fontcuberta J. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101: 1546-51.
7. 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: 89-101.
8. de Lange M, Snieder H, Ariens RA, Spector TD, Grant PJ. The genetics of haemostasis: A twin study. Lancet 2001; 357: 101-5.
9. Levy GG, Ginsburg D. Getting at the variable expressivity of von Willebrand disease. Thromb Haemost 2001; 86: 144-8.
10. International Society on Thrombosis and Haemostasis Scientific and Standardization Committee. VWF Information Homepage. http://www.vwf.group.shef.ac.uk/ (Accessed 5 January 2006).
11. Bodo I, Katsumi A, Tuley EA, Eikenboom JC, Dong Z, Sadler JE. Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: A possible general mechanism for dominant mutations of oligomeric proteins. Blood 2001; 98: 2973-9.
12. O'Brien LA, James PD, Othman M, Berber E, Cameron C, Notley CR, Hegadorn CA, Sutherland JJ, Hough C, Rivard GE, O'Shaunessey D, Lillicrap D. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood 2003; 102: 549-57.
13. Kunicki TJ, Federici AB, Salomon DR, Koziol JA, Head SR, Mondala TS, Chismar JD, Baronciani L, Canciani MT, Peake IR. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees. Blood 2004; 104: 2359-67.
14. Casana P, Martinez F, Haya S, Espinos C, Aznar JA. Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. Br J Haematol 2001; 115: 692-700.
15. Castaman G, Eikenboom JC, Bertina RM, Rodeghiero F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost 1999; 82: 1065-70.
16. Lanke E, Johansson A, Hallden C, Lethagen S. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J.Thromb Haemost 2005; 3: 2656-63.
17. De Visser MC, Sandkuijl LA, Lensen RP, Vos HL, Rosendaal FR, Bertina RM. Linkage analysis of factor VIII and von Willebrand factor loci as quantitative trait loci. J.Thromb Haemost 2003; 1: 1771-6.
18. Keightley AM, Lam YM, Brady JN, Cameron CL, Lillicrap D. Variation at the von Willebrand Factor (vWF) gene locus is associated with plasma vWF:IG levels: identification of three novel single nucleotide polymorphisms in the vWF gene promoter. Blood 1999; 93: 4277-83.
19. Harvey PJ, Keightley AM, Lam YM, Cameron C, Lillicrap D. A single nucleotide polymorphism at nucleotide-1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF:AG levels. Br J Haematol 2000; 109: 349-53.
20. Souto JC, Almasy L, Soria JM, Buil A, Stone W, Lathrop M, Blangero J, Fontcuberta J. Genome-wide linkage analysis of von Willebrand factor plasma levels: Results from the GAIT project. Thromb Haemost 2003; 89: 468-74.
21. Eikenboom J, van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I. Linkage 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: 774-82.
22. James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S, Brown C, O'Brien L, Leggo J, Lillicrap D. Genetic linkage and association analysis in type 1 von Willebrand disease: Results from the Canadian Type 1 VWD Study. J.Thromb Haemost 2006; 4: 783-92.
23. Mohlke KL, Nichols WC, Westrick RJ, Novak EK, Cooney KA, Swank RT, Ginsburg D. A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Proc Natl Acad Sci USA 1996; 93: 15352-7.
24. 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: 3061-7.
25. Mohlke KL, Purkayastha AA, Westrick RJ, Smith PL, Petryniak B, Lowe JB, Ginsburg D. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell 1999; 96: 111-20.
26. Hsu TM, Chen X, Duan S, Miller RD, Kwok PY. Universal SNP genotyping assay with fluorescence polarization detection. BioTechniques 2001; 31: 560, 562, 564-8, passim.
27. Broman KW, Wu H, Sen S, Churchill GA. R/qtl: QTL mapping in experimental crosses. Bioinformatics 2003; 19: 889-90.
28. Ihaka R, Gentleman R. R: A language for data analysis and graphics. J.Comput Graphical Stat 1996; 5: 299-314.
29. Lander ES, Botstein D. Mapping mendelian factors underlying quantitative traits using RFLP linkage maps. Genetics 1989; 121: 185-99.
30. Churchill GA, Doerge RW. Empirical threshold values for quantitative trait mapping. Genetics 1994; 138: 963-71.
31. Conlan MG, Folsom AR, Finch A, Davis CE, Sorlie P, Marcucci G, Wu KK. Associations of factor VIII and von Willebrand factor with age, race, sex, and risk factors for atherosclerosis. The Atherosclerosis Risk in Communities (ARIC) study. Thromb Haemost 1993; 70: 380-5.
32. The Jackson Laboratory. Mouse Phenome Database. http://www.jax.org/ phenome/. Accessed 24 January 2006.
33. Yamamoto M, Lin XH, Kominato Y, Hata Y, Noda R, Saitou N, Yamamoto F. Murine equivalent of the human histo-blood group ABO gene is a cis -AB gene and encodes a glycosyltransferase with both A and B transferase activity. J.Biol Chem 2001; 276: 13701-8.
34. Larkin JM, Porter CD. Mice are unsuitable for modelling ABO discordance despite strain-specific A cross-reactive natural IgM. Br J Haematol 2005; 130: 310-7.
35. Purcell S, Sham PC. Epistasis in quantitative trait locus linkage analysis: Interaction or main effect? Behav Genet 2004; 34: 143-52.
36. Taylor BA, Phillips SJ. Detection of obesity QTLs on mouse chromosomes 1 and 7 by selective DNA pooling. Genomics 1996; 34: 389-98.
37. Taylor BA, Phillips SJ. Obesity QTLs on mouse chromosomes 2 and 17. Genomics 1997; 43: 249-57.
38. Butcher LM, Meaburn E, Knight J, Sham PC, Schalkwyk LC, Craig IW, Plomin R. SNPs, microarrays and pooled DNA: Identification of four loci associated with mild mental impairment in a sample of 6000 children. Hum Mol Genet 2005; 14: 1315-25.
39. Fisher PJ, Turic D, Williams NM, McGuffin P, Asherson P, Ball D, Craig I, Eley T, Hill L, Chorney K, Chorney MJ, Benbow CP, Lubinski D, Plomin R, Owen MJ. DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children. Hum Mol Genet 1999; 8: 915-22.
40. Nadeau JH. Modifier genes and protective alleles in humans and mice. Curr Opin Genet Dev 2003; 13: 290-5.
41. Nadeau JH. Modifier genes in mice and humans. Nat Rev Genet 2001; 2: 165-74.
42. Vidal SM, Malo D, Vogan K, Skamene E, Gros P. Natural resistance to infection with intracellular parasites: Isolation of a candidate for Bcg. Cell 1993; 73: 469-85.
43. Bellamy R, Ruwende C, Corrah T, McAdam KPWJ, Whittle HC, Hill AVS. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N Engl J Med 1998; 338: 640-4.
44. The Jackson Laboratory. Mammalian Orthology and Comparative Maps. http://www.informatics.jax.org/menus/homology_menu.shtml. Accessed 24 January 2006.