Inherited risk factors for thrombotic diseases in children: The genome-wide perspective

Seminars in Thrombosis and Hemostasis

Volumn 37, Issue 7, 2011, Pages 848-855

  Preuss, Christoph ^a   Stoll, Monika ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

complex diseases; Genome wide association studies; pediatrics; venous thrombosis

Indexed keywords

ACENOCOUMAROL; FIBRINOGEN; LIPID; WARFARIN;

FIBRINOGEN BLOOD LEVEL; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART INFARCTION; HEREDITY; HUMAN; INFECTION; KNOWLEDGE; LIPID BLOOD LEVEL; NEOPLASM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; STROKE; THROMBOEMBOLISM; THROMBOPHILIA; THROMBOSIS; VEIN THROMBOSIS;

ADULT; ANTICOAGULANTS; CHILD; DRUG RESISTANCE; FACTOR V; FAMILY; FIBRINOGEN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT, NEWBORN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PHENOTYPE; RISK FACTORS; STROKE; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 84055217893     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0031-1297177     Document Type: Review

References (41)

1. Bezemer I D., van der Meer FJM, Eikenboom JCJ, Rosendaal F R., Doggen CJM. The value of family history as a risk indicator for venous thrombosis. Arch Intern Med 2009 169 6 610-615
2. Vandenbroucke J P., Koster T, Brit E, Reitsma P H., Bertina R M., Rosendaal F R. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994 344 8935 1453-1457 (Pubitemid 24351698)
3. Gregg J P., Yamane A J., Grody W W. Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. Am J Med Genet 1997 73 3 334-336 (Pubitemid 27509913)
4. Souto J C., Almasy L, Borrell M et al. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet 2000 67 6 1452-1459
5. McCarthy M I., Abecasis G R., Cardon L R. et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008 9 5 356-369 (Pubitemid 351556063)
6. Bertina R M., Koeleman B P., Koster T et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994 369 6475 64-67 (Pubitemid 24144355)
7. Kenet G, Lütkhoff L K., Albisetti M et al. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. Circulation 2010 121 16 1838-1847
8. Nowak-Göttl U, Weiler H, Hernandez I et al. Fibrinogen alpha and gamma genes and factor V Leiden in children with thromboembolism: results from 2 family-based association studies. Blood 2009 114 9 1947-1953
9. Vandenbroucke J P., van der Meer F J., Helmerhorst F M., Rosendaal F R. Factor V Leiden: should we screen oral contraceptive users and pregnant women? BMJ 1996 313 7065 1127-1130 (Pubitemid 26362955)
10. Lijfering W M., Middeldorp S, Veeger NJGM et al. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 2010 121 15 1706-1712
11. Nowak-Göttl U, Junker R, Kreuz W et al, Childhood Thrombophilia Study Group. Risk of recurrent venous thrombosis in children with combined prothrombotic risk factors. Blood 2001 97 4 858-862 (Pubitemid 32154265)
12. Juul K, Tybjaerg-Hansen A, Steffensen R, Kofoed S, Jensen G, Nordestgaard B G. Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses. Blood 2002 100 1 3-10 (Pubitemid 35177420)
13. Markus H S., Ali N, Swaminathan R, Sankaralingam A, Molloy J, Powell J. A common polymorphism in the methylenetetrahydrofolate reductase gene, homocysteine, and ischemic cerebrovascular disease. Stroke 1997 28 9 1739-1743 (Pubitemid 27391442)
14. Kelly P J., Rosand J, Kistler J P. et al. Homocysteine, MTHFR 677C>T polymorphism, and risk of ischemic stroke: results of a meta-analysis. Neurology 2002 59 4 529-536 (Pubitemid 34919985)
15. Wilhelmsen L, Svärdsudd K, Korsan-Bengtsen K, Larsson B, Welin L, Tibblin G. Fibrinogen as a risk factor for stroke and myocardial infarction. N Engl J Med 1984 311 8 501-505 (Pubitemid 14059351)
16. Uitte de Willige S, de Visser MCH, Houwing-Duistermaat J J., Rosendaal F R., Vos H L., Bertina R M. Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen gamma' levels. Blood 2005 106 13 4176-4183 (Pubitemid 41775924)
17. Kardys I, Uitterlinden A G., Hofman A, Witteman JCM, de Maat MPM. Fibrinogen gene haplotypes in relation to risk of coronary events and coronary and extracoronary atherosclerosis: the Rotterdam Study. Thromb Haemost 2007 97 2 288-295 (Pubitemid 46592150)
18. Lee D H., Henderson P A., Blajchman M A. Prevalence of factor V Leiden in a Canadian blood donor population. CMAJ 1996 155 3 285-289 (Pubitemid 26268000)
19. Limdi N A., Beasley T M., Allison D B., Rivers C A., Acton R T. Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy. Blood Cells Mol Dis 2006 37 2 100-106 (Pubitemid 44419597)
20. Yuan M, Tian X, Zheng G, Yang Y. Adaptive transmission disequilibrium test for family trio design. Stat Appl Genet Mol Biol 2009 8 1 e30
21. Spielman R S., Ewens W J. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996 59 5 983-989 (Pubitemid 26346336)
22. Helgadottir A, Thorleifsson G, Magnusson K P. et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet 2008 40 2 217-224 (Pubitemid 351171400)
23. Bilguvar K, Yasuno K, Niemelä M et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet 2008 40 12 1472-1477
24. Gretarsdottir S, Thorleifsson G, Manolescu A et al. Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann Neurol 2008 64 4 402-409
25. Gudbjartsson D F., Holm H, Gretarsdottir S et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet 2009 41 8 876-878
26. Trgout D A., Heath S, Saut N et al. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood 2009 113 21 5298-5303
27. Morange P E., Bezemer I, Saut N et al. A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. Am J Hum Genet 2010 86 4 592-595
28. Buil A, Trgout D A., Souto J C. et al. C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies. Blood 2010 115 23 4644-4650
29. Stec J J., Silbershatz H, Tofler G H. et al. Association of fibrinogen with cardiovascular risk factors and cardiovascular disease in the Framingham Offspring Population. Circulation 2000 102 14 1634-1638
30. Koster T, Rosendaal F R., Reitsma P H., van der Velden P A., Brit E, Vandenbroucke J P. Factor VII and fibrinogen levels as risk factors for venous thrombosis. A case-control study of plasma levels and DNA polymorphismsthe Leiden Thrombophilia Study (LETS). Thromb Haemost 1994 71 6 719-722
31. Danik J S., Par G, Chasman D I. et al. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet 2009 2 2 134-141
32. Barber M J., Mangravite L M., Hyde C L. et al. Genome-wide association of lipid-lowering response to statins in combined study populations. PLoS ONE 2010 5 3 e9763
33. Inouye M, Silander K, Hamalainen E et al. An immune response network associated with blood lipid levels. PLoS Genet 2010 6 9
34. Soranzo N, Spector T D., Mangino M et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 2009 41 11 1182-1190
35. Johnson A D., Yanek L R., Chen M H. et al. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. Nat Genet 2010 42 7 608-613
36. Musunuru K, Post W S., Herzog W et al. Association of SNPs on Chromosome 9p21.3 with Platelet Reactivity: A Potential Mechanism for Increased Vascular Disease. Circ Cardiovasc Genet. 2010 Sep.; Available from: http://dx.doi.org/10. 1161/CIRCGENETICS.109.923508
37. Caldwell M D., Awad T, Johnson J A. et al. CYP4F2 genetic variant alters required warfarin dose. Blood 2008 111 8 4106-4112
38. Daly A K. Pharmacogenomics of anticoagulants: steps toward personal dosage. Genome Med 2009 1 1 10
39. Rieder M J., Reiner A P., Gage B F. et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005 352 22 2285-2293 (Pubitemid 40740552)
40. Mitchell L, Lambers M, Flege S et al. Validation of a predictive model for identifying an increased risk for thromboembolism in children with acute lymphoblastic leukemia: results of a multicenter cohort study. Blood 2010 115 24 4999-5004
41. Daly A. Genome-wide association studies in pharmacogenomics. Nat Rev Genet 2010 11 241-246