Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children

Haematologica

Volumn 96, Issue 9, 2011, Pages 1335-1343

  Guerrero, José A ^a   Rivera, José ^a   Quiroga, Teresa ^b   Martinez Perez, Angel ^c   Antón, Ana Isabel ^a   Martínez, Constantino ^a   Panes, Olga ^b   Vicente, Vicente ^a   Mezzano, Diego ^b   Soria, José Manuel ^c   Corral, Javier ^a  

^a UNIVERSITY OF MURCIA   (Spain)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Children; Genome wide associations; Platelet count; Platelet function; Snp

Indexed keywords

ADENOSINE DIPHOSPHATE; ADRENALIN; ARACHIDONIC ACID; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; COLLAGEN; LYSOPHOSPHATIDIC ACID RECEPTOR; LYSOPHOSPHATIDIC ACID RECEPTOR 1; MYOSIN; MYOSIN VB; NEUROREGULIN 3; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CELL GRANULE; CELL SECRETION; CHILD; DNA MICROARRAY; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LPAR1 GENE; MALE; MYO5B GENE; NORMAL HUMAN; NRG3 GENE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; VALIDATION STUDY;

ALLELES; BLOOD PLATELETS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; PLATELET COUNT; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS;

EID: 79960639092     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.042077     Document Type: Article

References (43)

1. Reitsma PH. How to identify new genetic risk factors for VTE? Thromb Res. 2009;123 (Suppl 4):S22-S24.
2. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265):747-53.
3. de Lange M, Snieder H, Ariens RA, Spector TD, Grant PJ. The genetics of haemostasis: a twin study. Lancet. 2001;357(9250):101-5.
4. Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med. 2010;363(2):166-76.
5. Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, et al. Gene variants associated with deep vein thrombosis. JAMA. 2008;299(11):1306-14.
6. Tregouet DA, Heath S, Saut N, Biron- Andreani C, Schved JF, Pernod G, 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):5298-303.
7. Yang Q, Kathiresan S, Lin JP, Tofler GH, O'Donnell CJ. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. BMC Med Genet. 2007;8 (Suppl 1):S12.
8. Soranzo N, Spector TD, Mangino M, Kuhnel B, Rendon A, Teumer A, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet. 2009;41(11):1182-90.
9. Malarstig A, Buil A, Souto JC, Clarke R, Blanco-Vaca F, Fontcuberta J, et al. Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study. Blood. 2009;114(7):1417-22.
10. Buil A, Tregouet DA, Souto JC, Saut N, Germain M, Rotival M, et al. C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genomewide association and gene expression analyses followed by case-control studies. Blood. 2010;115(23):4644-50.
11. Kunicki TJ, Nugent DJ. The genetics of normal platelet reactivity. Blood. 2010;116(15): 2627-34.
12. Jones CI, Bray S, Garner SF, Stephens J, de Bono B, Angenent WG, et al. A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. Blood. 2009;114(7):1405-16.
13. Soranzo N, Rendon A, Gieger C, Jones CI, Watkins NA, Menzel S, et al. A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. Blood. 2009;113(16):3831-7.
14. Johnson AD, Yanek LR, Chen MH, Faraday N, Larson MG, Tofler G, et al. Genomewide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. Nat Genet. 2010;42 (7):608-13.
15. Schafer AI. Genetic and acquired determinants of individual variability of response to antiplatelet drugs. Circulation. 2003;108(8): 910-1.
16. Fusegawa Y, Hashizume H, Okumura T, Deguchi Y, Shina Y, Ikari Y, et al. Hypertensive patients with carotid artery plaque exhibit increased platelet aggregability. Thromb Res. 2006;117(6):615-22.
17. Zangari M, Guerrero J, Cavallo F, Prasad HK, Esseltine D, Fink L. Hemostatic effects of bortezomib treatment in patients with relapsed or refractory multiple myeloma. Haematologica. 2008;93(6):953-4.
18. Quiroga T, Goycoolea M, Panes O, Aranda E, Martinez C, Belmont S, et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica. 2007;92(3):357-65.
19. Martinez C, Anton AI, Corral J, Quiroga T, Panes O, Lozano ML, et al. Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause. Br J Haematol. 2009; 146(1):95-103.
20. Khandoga AL, Fujiwara Y, Goyal P, Pandey D, Tsukahara R, Bolen A, et al. Lysophosphatidic acid-induced platelet shape change revealed through LPA(1-5) receptor-selective probes and albumin. Platelets. 2008;19(6):415-27.
21. Perez-Torrado R, Yamada D, Defossez PA. Born to bind: the BTB protein-protein interaction domain. Bioessays. 2006;28(12): 1194-202.
22. Bilic I, Ellmeier W. The role of BTB domaincontaining zinc finger proteins in T cell development and function. Immunol Lett. 2007;108(1):1-9.
23. Nachmias VT, Kavaler J, Jacubowitz S. Reversible association of myosin with the platelet cytoskeleton. Nature. 1985;313 (5997):70-2.
24. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004; 30(5):537-47.
25. Zhang D, Sliwkowski MX, Mark M, Frantz G, Akita R, Sun Y, et al. Neuregulin-3 (NRG3): a novel neural tissue-enriched protein that binds and activates ErbB4. Proc Natl Acad Sci USA. 1997;94(18):9562-7.
26. Wang YC, Chen JY, Chen ML, Chen CH, Lai IC, Chen TT, et al. Neuregulin 3 genetic variations and susceptibility to schizophrenia in a Chinese population. Biol Psychiatry. 2008;64(12):1093-6.
27. Goodall AH, Burns P, Salles I, Macaulay IC, Jones CI, Ardissino D, et al. Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function. Blood. 2010;116(22): 4646-56.
28. Quiroga T, Goycoolea M, Matus V, Zuniga P, Martinez C, Garrido M, et al. Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays. Br J Haematol. 2009;147 (5):729-36.
29. Endler G, Exner M, Mannhalter C, Meier S, Ruzicka K, Handler S, et al. A common C-- >T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity. Thromb.Res. 2001;101(4):255-60.
30. Smith NL, Chen MH, Dehghan A, Strachan DP, Basu S, Soranzo N, et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation. 2010;121(12):1382-92.
31. Ken-Dror G, Drenos F, Humphries SE, Talmud PJ, Hingorani AD, Kivimaki M, et al. Haplotype and genotype effects of the F7 gene on circulating factor VII, coagulation activation markers and incident coronary heart disease in UK men. J Thromb Haemost. 2010;8(11):2394-403.
32. Xu YJ, Aziz OA, Bhugra P, Arneja AS, Mendis MR, Dhalla NS. Potential role of lysophosphatidic acid in hypertension and atherosclerosis. Can J Cardiol. 2003;19(13): 1525-36.
33. Rother E, Brandl R, Baker DL, Goyal P, Gebhard H, Tigyi G, et al. Subtype-selective antagonists of lysophosphatidic acid receptors inhibit platelet activation triggered by the lipid core of atherosclerotic plaques. Circulation. 2003;108(6):741-7.
34. Pamuklar Z, Lee JS, Cheng HY, Panchatcharam M, Steinhubl S, Morris AJ, et al. Individual heterogeneity in platelet response to lysophosphatidic acid: evidence for a novel inhibitory pathway. Arterioscler Thromb Vasc Biol. 2008;28(3): 555-61.
35. Nambiar R, McConnell RE, Tyska MJ. Myosin motor function: the ins and outs of actin-based membrane protrusions. Cell Mol Life Sci. 2010;67(8):1239-54.
36. Muller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008;40(10):1163-5.
37. Geddis AE. Megakaryopoiesis. Semin Hematol. 2010;47(3):212-9.
38. Thon JN, Italiano JE. Platelet formation. Semin Hematol. 2010;47(3):220-6.
39. Skoda RC. Thrombocytosis. Hematology Am Soc Hematol Educ Program. 2009 159-67.
40. Nurden P, Nurden AT. Congenital disorders associated with platelet dysfunctions. Thromb Haemost. 2008;99(2):253-63.
41. Biino G, Balduini CL, Casula L, Cavallo P, Vaccargiu S, Parracciani D, et al. Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traits. Haematologica. 2011;96(1): 96-101.
42. Da Prada M, Cesura AM, Launay JM, Richards JG. Platelets as a model for neurones? Experientia. 1988;44(2):115-26.
43. Bismuth-Evenzal Y, Roz N, Gurwitz D, Rehavi M. N-methyl-citalopram: a quaternary selective serotonin reuptake inhibitor. Biochem Pharmacol. 2010;80(10):1546-52.