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Original Article

Targeted deep sequencing of the PEAR1 locus for platelet aggregation in European and African American families

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Pages 380-386 | Received 03 Oct 2017, Accepted 19 Jan 2018, Published online: 19 Mar 2018

References

  • Berenson GS, Srinivasan SR, Bao W, Newman WP, Tracy RE, Wattigney WA, Newman WP. Association between multiple cardiovascular risk factors and atherosclerosis in children and young adults. The. Study BH The New England Journal of Medicine 1998; 338(23): 1650–1656. doi: 10.1056/NEJM199806043382302.
  • Hennekens CH, Dyken ML, Fuster V. Aspirin as a therapeutic agent in cardiovascular disease: A statement for healthcare professionals from the American Heart Association. Circulation 1997; 96(8): 2751–2753.
  • Jin RC, Voetsch B, Loscalzo J. Endogenous mechanisms of inhibition of platelet function. Microcirculation 2005; 12(3): 247–258. doi: 10.1080/10739680590925493.
  • Fuster V, Dyken ML, Vokonas PS, Hennekens C. Aspirin as a therapeutic agent in cardiovascular disease. Special Writing Group. Circulation 1993; 87(2): 659–675. doi: 10.1161/01.CIR.87.2.659.
  • Qayyum R, Becker DM, Yanek LR, Faraday N, Vaidya D, Mathias R, Kral BG, Becker LC. Greater collagen-induced platelet aggregation following cyclooxygenase 1 inhibition predicts incident acute coronary syndromes. Clinical and Translational Science 2015; 8(1): 17–22. doi: 10.1111/cts.12195.
  • Faraday N, Yanek LR, Mathias R, Herrera-Galeano JE, Vaidya D, Moy TF, Fallin MD, Wilson AF, Bray PF, Becker LC, et al. Heritability of platelet responsiveness to aspirin in activation pathways directly and indirectly related to cyclooxygenase-1. Circulation 2007; 115(19): 2490–2496. doi: 10.1161/CIRCULATIONAHA.106.667584.
  • Bray PF, Mathias RA, Faraday N, Yanek LR, Fallin MD, Herrera-Galeano JE, Wilson AF, Becker LC, Becker DM. Heritability of platelet function in families with premature coronary artery disease. Journal of Thrombosis and Haemostasis : JTH 2007; 5(8): 1617–1623. doi: 10.1111/j.1538-7836.2007.02618.x.
  • Herrera-Galeano JE, Becker DM, Wilson AF, Yanek LR, Bray P, Vaidya D, Faraday N, Becker LC. A novel variant in the platelet endothelial aggregation receptor-1 gene is associated with increased platelet aggregability. Arteriosclerosis, Thrombosis, and Vascular Biology 2008; 28(8): 1484–1490. doi: 10.1161/ATVBAHA.108.168971.
  • Johnson AD, Yanek LR, Chen MH, Faraday N, Larson MG, Tofler G, Lin SJ, Kraja AT, Province MA, Yang Q, et al. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. Nature Genetics 2010; 42(7): 608–613. doi: 10.1038/ng.604.
  • Eicher JD, Chami N, Kacprowski T, Nomura A, Chen MH, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. American Journal of Human Genetics 2016; 99(1): 40–55. doi: 10.1016/j.ajhg.2016.05.005.
  • Qayyum R, Becker LC, Becker DM, Faraday N, Yanek LR, Leal SM, Shaw C, Mathias R, Suktitipat B, Bray PF. Genome-wide association study of platelet aggregation in African Americans. BMC Genetics 2015; 16: 58. doi: 10.1186/s12863-015-0217-9.
  • Faraday N, Yanek LR, Yang XP, Mathias R, Herrera-Galeano JE, Suktitipat B, Qayyum R, Johnson AD, Chen MH, Tofler GH, et al. Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression. Blood 2011; 118(12): 3367–3375. doi: 10.1182/blood-2010-11-320788.
  • Lewis JP, Ryan K, O’Connell JR, Horenstein RB, Damcott CM, Gibson Q, Pollin TI, Mitchell BD, Beitelshees AL, Pakzy R, et al. Genetic variation in PEAR1 is associated with platelet aggregation and cardiovascular outcomes. Circulation: Cardiovascular Genetics 2013; 6(2): 184–192. doi: 10.1161/CIRCGENETICS.111.964627.
  • Xiang Q, Cui Y, Zhao X, Zhao N. Identification of PEAR1 SNPs and their influences on the variation in prasugrel pharmacodynamics. Pharmacogenomics 2013; 14(10): 1179–1189. doi: 10.2217/pgs.13.108.
  • Kim Y, Suktitipat B, Yanek LR, Faraday N, Wilson AF, Becker DM, Becker LC, Mathias RA. Targeted deep resequencing identifies coding variants in the pear1 gene that play a role in platelet aggregation. PLoS ONE 2013; 8: 5. doi: 10.1371/journal.pone.0064179.
  • Kauskot A, Di Michele M, Loyen S, Freson K, Verhamme P, Hoylaerts MF. A novel mechanism of sustained platelet αIIbβ3 3 activation via PEAR1. Blood 2012; 119(17): 4056–4065. doi: 10.1182/blood-2011-11-392787.
  • Vandenbriele C, Sun Y, Criel M, K C, Van Kerckhoven S, Izzi B, Vanassche T, Verhamme P, Hoylaerts MF. Dextran sulfate triggers platelet aggregation via direct activation of PEAR1. Platelets 2016; 27(4): 365–372. doi: 10.3109/09537104.2015.1111321.
  • Johnson AD. The genetics of common variation affecting platelet development, function and pharmaceutical targeting. Journal of Thrombosis and Haemostasis 2011; 9(1 S): 246–257. doi: 10.1111/j.1538-7836.2011.04359.x.
  • Peng LL, Zhao YQ, Zhou ZY, Jin J, Zhao M, Chen XM, Chen LY, Cai YF, Li JL, Huang M. Associations of MDR1, TBXA2R, PLA2G7, and PEAR1 genetic polymorphisms with the platelet activity in Chinese ischemic stroke patients receiving aspirin therapy. Acta Pharmacologica Sinica 2016; 37(11): 1442–1448. doi: 10.1038/aps.2016.90.
  • Wang K, Li M, Annovar: HH. Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research 2010; 38: 16. doi: 10.1093/nar/gkq603.
  • Ng PC, Sift: HS. Predicting amino acid changes that affect protein function. Nucleic Acids Research 2003; 31(13): 3812–3814. doi: 10.1093/nar/gkg509.
  • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Current Protocols in Human Genetics 2013; (SUPPL.76): doi: 10.1002/0471142905.hg0720s76.
  • Ha S, Gough J, Dn C, Pd S, Gla B, Kj E, Inm D, Tr G. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden markov models. Human Mutation 2013; 34(1): 57–65. doi: 10.1002/humu.22225.
  • Kircher M, Witten DM, Jain P, O’roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics 2014; 46(3): 310–315. doi: 10.1038/ng.2892.
  • Feng S, Liu D, Zhan X, Mk W, Gr A. RAREMETAL: fast and powerful meta-analysis for rare variants. Bioinformatics 2014; 30(19): 2828–2829. doi: 10.1093/bioinformatics/btu367.
  • Krasopoulos G, Brister SJ, Beattie WS, Buchanan MR. Aspirin “resistance” and risk of cardiovascular morbidity: systematic review and meta-analysis. Bmj 2008; 336(7637): 195–198. doi: 10.1136/bmj.39430.529549.BE.
  • Snoep JD, Hovens MMC, Eikenboom JCJ, Van Der Bom JG, Huisman MV. Association of laboratory-defined aspirin resistance with a higher risk of recurrent cardiovascular events: a systematic review and meta-analysis. Archives of Internal Medicine 2007; 167(15): 1593–1599. doi: 10.1001/archinte.167.15.1593.
  • Nanda N, Bao M, Lin H, Clauser K, Komuves L, Quertermous T, Conley PB, Phillips DR, Hart MJ. Platelet endothelial aggregation receptor 1 (PEAR1), a novel epidermal growth factor repeat-containing transmembrane receptor, participates in platelet contact-induced activation. Journal of Biological Chemistry 2005; 280(26): 24680–24689. doi: 10.1074/jbc.M413411200.
  • Izzi B, Pistoni M, Cludts K, Akkor P, Lambrechts D, Verfaillie C, Verhamme P, Freson K, Hoylaerts MF. Allele-specific DNA methylation reinforces PEAR1 enhancer activity. Blood 2016; 128(7): 1003–1012. doi: 10.1182/blood-2015-11-682153.
  • Backman JD, Yerges-Armstrong LM, Horenstein RB, Newcomer S, Shaub S, Morrisey M, Donnelly P, Drolet M, Tanner K, Pavlovich MA, et al. Prospective evaluation of genetic variation in platelet endothelial aggregation receptor 1 reveals aspirin-dependent effects on platelet aggregation pathways. Clinical and Translational Science 2017; 10(2): 102–109. doi: 10.1111/cts.12438.
  • Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. Sequence kernel association tests for the combined effect of rare and common variants. American Journal of Human Genetics 2013; 92(6): 841–853. doi: 10.1016/j.ajhg.2013.04.015.
  • Voora D, Horton J, Shah SH, Shaw LK, Newby LK Polymorphisms associated with in vitro aspirin resistance are not associated with clinical outcomes in patients with coronary artery disease who report regular aspirin use. American Heart Journal. 2011;162(1). doi:10.1016/j.ahj.2011.03.026
  • Yang W-Y, Petit T, Cauwenberghs N, Zhang Z-Y, Sheng C-S, Thijs L, Salvi E, Izzi B, Vandenbriele C, Wei -F-F, et al. PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population. BMC Medical Genetics 2017; 18(1): 45. doi: 10.1186/s12881-017-0411-x.
  • Vane JR, Botting RM. The mechanism of action of aspirin. In: Thrombosis Research 2003; 110: 255–258. doi: 10.1016/S0049-3848(03)00379-7.
  • Naimo PS, McGiffin D, Konstantinov IE. Aspirin resistance in the era of personalized medicine: should we not take it personally? Journal of Thoracic and Cardiovascular Surgery 2015; 150(6): e99–e100. doi: 10.1016/j.jtcvs.2015.09.049.

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