血小板内皮聚集受体1基因多态性在中国心血管病患者和健康人中的分布差异
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摘要
目的分析血小板内皮聚集受体1(PEAR1)基因在中国健康人和心血管病患者之间的分布差异。方法本研究通过Sequenom Mass ARRY~?方法检测PEAR1基因突变位点,分析中国健康人和心血管患者中的基因位点分布差异。结果共纳入患者203人,健康人106人,共检测PEAR1位点19个,PEAR1基因在心血管患者和健康志愿者2组间分布,差异无统计学意义(P> 0. 05)。结论 PEAR1基因有多个基因多态性位点,在中国人群中均有分布。
Objective To investigate the differences in distribution of platelet endothelial aggregation receptor 1( PEAR1) between Chinese cardiovascular patients and healthy population. Methods This study used method of Sequenom Mass ARRY~?to detect differences in distribution of PEAR1 gene between Chinese cardiovascular patients and healthy population. Results A total of 203 patients with cardiovascular disease and 106 healthy volunteer were enrolled. Nineteen sites were detected and all of them are variants in PEAR1 locus. There is no statistical difference of distribution between patients and healthy volunteers( P > 0. 05).Conclusion PEAR1 gene have multiple polymorphic sites in Chinese people.
Objective To investigate the differences in distribution of platelet endothelial aggregation receptor 1( PEAR1) between Chinese cardiovascular patients and healthy population. Methods This study used method of Sequenom Mass ARRY~?to detect differences in distribution of PEAR1 gene between Chinese cardiovascular patients and healthy population. Results A total of 203 patients with cardiovascular disease and 106 healthy volunteer were enrolled. Nineteen sites were detected and all of them are variants in PEAR1 locus. There is no statistical difference of distribution between patients and healthy volunteers( P > 0. 05).Conclusion PEAR1 gene have multiple polymorphic sites in Chinese people.
引文
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[6]FARADAY N,YANEK L R,YANG X P,et al.Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression[J].Blood,2011,118(12):3367-3375.
[7]LI C,ZHANG L,WANG H,et al.Gene variants in responsiveness to clopidogrel have no impact on clinical outcomes in Chinese patients undergoing percutaneous coronary intervention-a multicenter study[J/OL].Int J Cardiol,2017,240:360-36.2017-08-01[2018-10-02].https://www.ncbi.nlm.nih.gov/pubmed/28377187.
[8]NIE X Y,LI J L,QIN S B,et al.Genetic mutations in PEAR1 associated with cardiovascular outcomes in Chinese patients with acute coronary syndrome[J/OL].Thromb Res,2018,163:77-82.2018-10-02[2018-02-02].http://www.ncbi.nlm.nih.gov/pubmed/29407631.
[2]HERRERA-GALEANO JE,BECKER DM,WILSON AF et al.Anovel variant in the platelet endothelial aggregation receptor-1 gene is associated with increased platelet aggregability[J].Arterioscler Thromb Vasc Biol,2008,28(8):1484-1490.
[3]JONES C I,BRAY S,GARNER S F,et al.A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways[J].Blood,2009,114(7):1405-1416.
[4]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[J].Nat Genet,2010,42(7):608-13.
[5]BACKMAN J D,YERGES-ARMSTRONG L M,HORENSTEIN RB,et al.Prospective evaluation of genetic variation in platelet endothelial aggregation receptor 1 reveals aspirin-dependent effects on platelet aggregation pathways[J].Clin Transl Sci,2017,10(2):102-109.
[6]FARADAY N,YANEK L R,YANG X P,et al.Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression[J].Blood,2011,118(12):3367-3375.
[7]LI C,ZHANG L,WANG H,et al.Gene variants in responsiveness to clopidogrel have no impact on clinical outcomes in Chinese patients undergoing percutaneous coronary intervention-a multicenter study[J/OL].Int J Cardiol,2017,240:360-36.2017-08-01[2018-10-02].https://www.ncbi.nlm.nih.gov/pubmed/28377187.
[8]NIE X Y,LI J L,QIN S B,et al.Genetic mutations in PEAR1 associated with cardiovascular outcomes in Chinese patients with acute coronary syndrome[J/OL].Thromb Res,2018,163:77-82.2018-10-02[2018-02-02].http://www.ncbi.nlm.nih.gov/pubmed/29407631.