HFE p。His63Asp多态性不是一个修饰符的ALS表型(P2.049)

文摘

摘要目的:评估HFE p的影响。His63Asp表型多态性的一系列大型的意大利ALS患者。背景:它最近报道,p。His63Asp HFE基因的多态性加速疾病进展在动物模型的肌萎缩性侧索硬化症(Nandar et al, Biochim Biophys学报2014)。这个发现被复制在35 ALS患者(2014年苏et al,肌肉神经)。设计/方法:共有1333名意大利ALS患者(234撒丁岛人的祖先)p基因分型。His63Asp HFE基因的多态性。患者与其他基因多态性被排除在外。所有患者也为C9ORF72评估、TARDBP SOD1和付家突变。患者的生存和临床表型与HFE多态性。结果:1136年的ALS患者,389 (29.2 [percnt])杂合的p。His63Asp多态性。以下主要ALS基因突变被发现:TARDBP, 75;C9ORF72, 72;26岁的SOD1付14。没有患者HFE多态性发病年龄没有显著差异(61.9(标准差11.4)和62.0(标准差11.9)年,p = n)或网站出现症状(球开始,25.8 (percnt)和25.7 (percnt), p = n)。生存从症状出现也类似的两组患者(p。His63Asp携带,平均生存时间3.4年,四分位范围(差)2.1 - -6.7;非承运人,3.2年,差1.9 - -6.1])。这些发现并没有改变时排除患者主要的基因突变或当评估分别来自意大利大陆和撒丁岛的患者。结论:不同于在ALS的小鼠模型,观察HFE p。His63Asp多态性对ALS没有影响本系列大型意大利ALS患者的表型。研究支持:Ministero德拉致敬(格兰特rf - 2010 2309849),欧洲共同体的健康第七框架计划(259867年授予协议),ARISLA (SARDINIALS项目)和联合规划——神经退行性疾病的研究(意大利教育部和大学)(索菲亚和力量项目)。

披露:莫拉博士没有披露。barberi博士没有披露。Restagno博士没有披露。Brunetti博士没有披露。Sabatelli博士没有披露。Zollino博士没有披露。Battistini博士没有披露。Conforti博士没有披露。Caponnetto博士没有披露。Mandich博士没有披露。 Dr. Mandrioli has nothing to disclose. Dr. Penco has nothing to disclose. Dr. Lunetta has nothing to disclose. Dr. Borghero has nothing to disclose. Dr. Murru has nothing to disclose. Dr. Monsurro has nothing to disclose. Dr. Tedeschi has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc., Merck Serono, Bayer Schering Pharma, Novartis, and Biogen Idec as a speaker. Dr. Volanti has nothing to disclose. Dr. Simone has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc., and Biogen Idec. Dr. Logroscino has received personal compensation for activities with Novartis, GlaxoSmithKline, and Boerhinger, and as a member of the Cohorts Project in Biomedicine. Dr. Logroscino has received personal compensation in an editorial capacity for Karger. Dr. Logullo has nothing to disclose. Dr. Salvi has received research support from the Fondazione Hilarescere. Dr. Riva has nothing to disclose. controls" funded by Merck Inc., $1,300,000. Dr. Calvo has nothing to disclose. Adriano Chiò serves on a scientific advisory board for Biogen Idec, Cytokinetics and Italfamaco,