PLoS One:FBN-1基因的遗传变异与胸主动脉夹层相关

2014-04-23 高晓方 译 医学论坛网

美国耶鲁大学的一项研究表明,FBN-1基因单核苷酸多态性rs2118181与胸主动脉夹层(TAD)具有相关性。论文于4月17日在线发表于 PLoS ONE 。 近期,LeMaire等研究者发现,GWAS研究显示,在FBN-1基因中的两个单核苷酸多态性(rs2118181 和rs10519177)与胸主动脉夹层、胸主动脉瘤(TAA)和胸主动脉瘤或夹层(TAAD)有关。该研究旨在验证上述结果。 此

美国耶鲁大学的一项研究表明,FBN-1基因单核苷酸多态性rs2118181与胸主动脉夹层(TAD)具有相关性。论文于4月17日在线发表于 PLoS ONE 。【原文下载】

近期,LeMaire等研究者发现,GWAS研究显示,在FBN-1基因中的两个单核苷酸多态性(rs2118181 和rs10519177)与胸主动脉夹层、胸主动脉瘤(TAA)和胸主动脉瘤或夹层(TAAD)有关。该研究旨在验证上述结果。

此项研究共纳入637例TAAD患者和275例对照组,其中TAD和胸主动脉瘤(TAA)患者分别为140例和497例。确定受试者的rs2118181和rs10519177基因型。对性别、年龄、研究中心和高血压进行校正之后,利用Logistic回归模型评估基因型与TAD、TAA和TAAD的相关性。

结果显示,rs2118181与TAD具有相关性。与未携带者相比,rs2118181携带者的TAD未校正比值比为1.80;对性别、年龄、研究中心和高血压进行校正之后,TAD比值比为1.87。rs2118181风险变异携带者和未携带者在TAD潜在混淆因素主动脉大小方面并无显著差异(平均主动脉大小为5.56和5.48)。rs2118181与TAA和TAAD无相关性。rs10519177与TAD、TAA和TAAD均无相关性。

原始出处:


Iakoubova OA1, Tong CH1, Rowland CM1, Luke MM1, Garcia VE1, Catanese JJ1, Moomiaie RM2, Sotonyi P3, Ascady G3, Nikas D4, Dedelias P5, Tranquilli M2, Elefteriades JA2.Genetic Variants in FBN-1 and Risk for Thoracic Aortic Aneurysm and Dissection.PLoS One. 2014 Apr 17;9(4):e91437. doi: 10.1371/journal.pone.0091437. eCollection 2014. 【原文下载】

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