Vnitr Lek 2014, 60(10):880-884

The Association of atherothrombosis and thrombophilias - genetic aspects

Tomáš Kvasnička
Trombotické centrum Ústavu lékařské biochemie a laboratorní diagnostiky 1. LF UK a VFN Praha, přednosta prof. MUDr. Tomáš Zima, DrSc, MBA

Thrombosis in the arterial or venous vascular systems is preceded by a complex interplay between environmental and genetic factors, and it is the underlying cause of several common complex diseases. The genomewide association approach has proved successful in identifying loci associated with cardiovascular disease and related risk factors. However, much work remains to identifyning the culprit genes and causal variants as well as the mechanisms whereby they influence disease development and progression. In-depth studies of previously identified disease-associated loci are expected to improve our understanding of the pathophysiology of cardiovascular disease and identify novel targets for treatment. In the field of atherothrombosis and thrombophilia are significant results from association studies focused on the area of coronary artery disease, ischemic stroke, venous thromboembolism.

Keywords: atherosclerosis; atherothrombosis; coronary artery disease; genomewide association study (GWAS); myocardial infarction; single nucleotide polymorphism (SNP); thrombophilia; venous thromboembolism

Received: May 14, 2014; Accepted: July 7, 2014; Published: October 1, 2014  Show citation

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Kvasnička T. The Association of atherothrombosis and thrombophilias - genetic aspects. Vnitr Lek. 2014;60(10):880-884.
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    References

    1. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145): 661-678. Go to original source... Go to PubMed...
    2. Hindorff LA, Sethupathy P, Junkins HA et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106(23): 9362-9367. Go to original source... Go to PubMed...
    3. Lusis AJ, Mar R, Pajukanta P Genetics of atherosclerosis. Annu Rev Genomics Hum Genet 2004; 5: 189-218. Go to original source... Go to PubMed...
    4. Libby P, Ridker PM, Hansson GK Inflammation in atherosclerosis: from pathophysiology to practice. J Am Coll Cardiol 2009; 54(23): 2129-2138. Go to original source... Go to PubMed...
    5. Helgadottir A, Thorleifsson G, Manolescu A et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007; 316(5830): 1491-1493. Go to original source... Go to PubMed...
    6. Schunkert H, Gotz A, Braund P et al. Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation 2008; 117(13): 1675-1684. Go to original source... Go to PubMed...
    7. Broadbent HM, Peden JF, Lorkowski S et al. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum Mol Genet 2008; 17(6): 806-814. Go to original source... Go to PubMed...
    8. Jarinova O, Stewart AF, Roberts R et al. Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus. Arterioscler Thromb Vasc Biol 2009; 29(10): 1671-1677. Go to original source... Go to PubMed...
    9. Folkersen L, Kyriakou T, Goel A et al. Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants. PLoS One 2009; 4(11): e7677. Go to original source... Go to PubMed...
    10. Kathiresan S, Voight BF, Purcell S et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009; 41(3): 334-341. Go to original source... Go to PubMed...
    11. Nielsen MS, Jacobsen C, Olivecrona G et al. Sortilin/neurotensin receptor-3 binds and mediates degradation of lipoprotein lipase. J Biol Chem 1999; 274(13): 8832-8836. Go to original source... Go to PubMed...
    12. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003; 111(12): 1795-1803. Go to original source... Go to PubMed...
    13. Clarke R, Peden JF, Hopewell JC et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med 2009; 361(26): 2518-2528. Go to original source... Go to PubMed...
    14. Erqou S, Kaptoge S, Perry PL et al. Lipoprotein(a) concentration and the risk of coronary heart disease, stroke, and nonvascular mortality. JAMA 2009; 302(4): 412-423. Go to original source... Go to PubMed...
    15. Bosserhoff AK, Moser M, Buettner R. Characterization and expression pattern of the novel MIA homolog TANGO. Gene Expr Patterns 2004; 4(4): 473-479. Go to original source... Go to PubMed...
    16. Holzel M, Rohrmoser M, Schlee M et al. Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation. J Cell Biol 2005; 170(3): 367-378. Go to original source... Go to PubMed...
    17. Allen PB, Greenfield AT, Svenningsson P et al. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. Proc Natl Acad Sci USA 2004; 101(18): 7187-7192. Go to original source... Go to PubMed...
    18. Gleissner CA, von Hundelshausen P, Ley K. Platelet chemokines in vascular disease. Arterioscler Thromb Vasc Biol 2008; 28(11): 1920-1927. Go to original source... Go to PubMed...
    19. Stellos K, Bigalke B, Langer H et al. Expression of stromal-cellderived factor-1 on circulating platelets is increased in patients with acute coronary syndrome and correlates with the number of CD34+ progenitor cells. Eur Heart J 2009; 30(5): 584-593. Go to original source... Go to PubMed...
    20. Abbott GW, Sesti F, Splawski I et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999; 97(2): 175-187. Go to original source... Go to PubMed...
    21. Erdmann J, Grosshennig A, Braund PS et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009; 41(3): 280-282. Go to original source... Go to PubMed...
    22. Elliott P, Chambers JC, Zhang W et al. Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA 2009; 302(1): 37-48. Go to original source... Go to PubMed...
    23. Gudbjartsson DF, Bjornsdottir US, Halapi E et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet 2009; 41(3): 342-347. Go to original source... Go to PubMed...
    24. Takaki S, Sauer K, Iritani BM et al. Control of B cell production by the adaptor protein lnk. Definition of a conserved family of signal-modulating proteins. Immunity 2000; 13(5): 599-609. Go to original source... Go to PubMed...
    25. Takizawa H, Nishimura S, Takayama N et al. Lnk regulates integrin alphaIIb beta3 outside-in signaling in mouse platelets, leading to stabilization of thrombus development in vivo. J Clin Invest 2010; 120(1): 179-190. Go to original source... Go to PubMed...
    26. Tregouet DA, 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. Go to original source... Go to PubMed...
    27. Bezemer ID, Bare LA, Doggen CJ et al. Gene variants associated with deep vein thrombosis. JAMA 2008; 299(11): 1306-1314. Go to original source... Go to PubMed...
    28. Coenen MJ, Trynka G, Heskamp S et al. Common and different genetic background for rheumatoid arthritis and celiac disease. Hum Mol Genet 2009; 18(21): 4195-4203. Go to original source... Go to PubMed...
    29. Ikram MA, Seshadri S, Bis JC et al. Genomewide association studies of stroke. N Engl J Med 2009; 360(17): 1718-1728. Go to original source... Go to PubMed...
    30. Debette S, Bis JC, Fornage M et al. Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium. Stroke 2010; 41(2): 210-217. Go to original source... Go to PubMed...
    31. Chasman DI, Paré G, Mora S et al. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet 2009; 5(11): e1000730. Dostupné z DOI: <http://doi:10.1371/journal.pgen.1000730>. Go to original source... Go to PubMed...
    32. Abbas Dehghan, Qiong Yang, Annette Peters et al. Association of novel genetic loci with circulating fibrinogen levels. Circ Cardiovasc Genet 2009; 2(2): 125-133. Go to original source... Go to PubMed...
    33. Dupuis J, Langenberg C, Prokopenko I et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010; 42(2): 105-116. Go to original source... Go to PubMed...
    34. Saxena R, Hivert MF, Langenberg C et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet 2010; 42(2): 142-148. Go to original source... Go to PubMed...
    35. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009; 461(7265): 747-753. Go to original source... Go to PubMed...

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