Effect of Genetic Variation in STXBP5 and STX2 on von Willebrand Factor and Bleeding Phenotype in Type 1 von Willebrand Disease Patients 英文参考文献.docVIP

下载本文档

2
0
约2.48万字
约 6页
2017-05-11 发布于上海
举报
版权申诉

Effect of Genetic Variation in STXBP5 and STX2 on von Willebrand Factor and Bleeding Phenotype in Type 1 von Willebrand Disease Patients 英文参考文献.doc

1、本文档共6页，可阅读全部内容。
2、原创力文档（book118）网站文档一经付费（服务费），不意味着购买了该文档的版权，仅供个人/单位学习、研究之用，不得用于商业用途，未经授权，严禁复制、发行、汇编、翻译或者网络传播等，侵权必究。
3、本站所有内容均由合作方或网友上传，本站不对文档的完整性、权威性及其观点立场正确性做任何保证或承诺！文档内容仅供研究参考，付费前请自行鉴别。如您付费，意味着您自己接受本站规则且自行承担风险，本站不退款、不进行额外附加服务；查看《如何避免下载的几个坑》。如果您已付费下载过本站文档，您可以点击这里二次下载。
4、如文档侵犯商业秘密、侵犯著作权、侵犯人身权等，请点击“版权申诉”（推荐），也可以打举报电话：400-050-0827(电话支持时间：9:00-18:30)。
5、该文档为VIP文档，如果想要下载，成为VIP会员后，下载免费。
6、成为VIP后，下载本文档将扣除1次下载权益。下载后，不支持退款、换文档。如有疑问请联系我们。
7、成为VIP后，您将拥有八大权益，权益包括：VIP文档下载权益、阅读免打扰、文档格式转换、高级专利检索、专属身份标志、高级客服、多端互通、版权登记。
8、VIP文档为合作方或网友上传，每下载1次，网站将根据用户上传文档的质量评分、类型等，对文档贡献者给予高额补贴、流量扶持。如果你也想贡献VIP文档。上传文档

Effect of Genetic Variation in STXBP5 and STX2 on von Willebrand Factor and Bleeding Phenotype in Type 1 von Willebrand Disease Patients 英文参考文献

EffectofGeneticVariationinSTXBP5andSTX2onvon WillebrandFactorandBleedingPhenotypeinType1von WillebrandDiseasePatients JanineE.vanLoon,YvonneV.Sanders,EvaM.deWee,MariekeJ.H.A.Kruip,MoniekP.M.deMaat, FrankW.G.Leebeek* DepartmentofHaematology,ErasmusMedicalCenter,Rotterdam,TheNetherlands Abstract Background:Intype1vonWillebrandDisease(VWD)patients,vonWillebrandFactor(VWF)levelsandbleedingsymptoms are highly variable. Recently, the association between genetic variations in STXBP5 and STX2 with VWF levels has been discoveredinthegeneralpopulation.WeassessedtherelationshipbetweengeneticvariationsinSTXBP5andSTX2 ,VWF levels,andbleedingphenotypeintype1VWDpatients. Methods: In 158 patients diagnosed with type 1 VWD according to the current ISTH guidelines, we genotyped three tagging-SNPs in STXBP5 and STX2 and analyzed their relationship with VWF:Ag levels and the severity of the bleeding phenotype,asassessedbytheTosettobleedingscore. Results: In STX2, rs7978987 wassignificantly associated withVWF:Ag levels(be`ta-coefficient (b)=20.04IU/mL perallele, [95%CI 20.07;20.001], p=0.04) and VWF:CB activity (b=20.12IU/mL per allele, [95%CI 20.17;20.06], p,0.0001). For rs1039084 in STXBP5 a similar trend with VWF:Ag levels was observed: (b=20.03IU/mL per allele [95% CI 20.06;0.003], p=0.07).Inwomen,homozygouscarriersoftheminorallelesofbothSNPsinSTXBP5hadasignificantlyhigherbleeding scorethanhomozygouscarriersofthemajoralleles.(Rs1039084p=0.01andrs9399599p=0.02). Conclusions:GeneticvariationinSTX2isassociatedwithVWF:Aglevelsinpatientsdiagnosedwithtype1VWD.Inaddition, geneticvariationinSTXBP5isassociatedwithbleedingphenotypeinfemaleVWDpatients.Ourfindingsmaypartlyexplain thevariableVWFlevelsandbleedingphenotypeintype1VWDpatients. Citation:vanLoonJE,SandersYV,deWeeEM,KruipMJHA,deMaatMPM,etal.(2012)EffectofGeneticVariationinSTXBP5andSTX2onvonWillebrandFactor andBleedingPhenotypeinType1vonWillebrandDiseasePatients.PLoSONE7(7):e40624.doi:10.1371/journal.pone.0040624 Editor:PeterJ.Lenting