PT -期刊文章AU - s·温克勒AU - j . Hagenah AU - s林肯AU - m·赫克曼AU - k . Haugarvoll盟- k . Lohmann-Hedrich盟诉Kostic盟——m·法瑞尔盟——c·克莱因TI - - 10.1212/01. wnl.0000275524.15125α-Synuclein和帕金森病易感性援助。f4 DP - 2007年10月30日TA -神经首页病学第六PG - 1745 - 1750 - 69 IP - 18 4099 - //www.ez-admanager.com/content/69/18/1745.short 4100 - //www.ez-admanager.com/content/69/18/1745.full所以Neurology2007 10月30日;69 AB -背景:突变α-synuclein) (SNCA基因已被证明负责一种罕见的家族性帕金森病(PD)的形式。此外,多态在多个区域的基因变异与不同人群对特发性帕金森病的易感性有关。目的:评估和确认SNCA基因变异在PD发病机制中的作用。方法:我们包括667例(397例特发性帕金森病和270年健康、种族匹配控制)北部的中部和东南部欧洲起源。我们分析了SNCA基因型在14标记生成轨迹和其主要单体型进行了单体型分析包括微卫星标记Rep1四子标记。结果:三个单核苷酸多态性(SNP)的启动子区域(rs2583988、rs2619364 rs2619363)和3′UTR SNP (rs356165) SNCA基因显示最大的证据与PD (p≤0.003),与重要的成对的连锁不平衡值(D′≥0.74, 2 r≥0.29)。启动子单体型“261 - t - g - t”(Rep1-rs2583988-rs2619364-rs2619363)与疾病相关(p = 0.032)。最重要的与PD协会是由不含Rep1 (p = 0.008)。在分析这种联系仍然显著塞尔维亚病人分别对德国的病人和边缘的意义。 Conclusions: Our findings confirm that genetic variability within the SNCA locus is associated with susceptibility to idiopathic Parkinson disease (PD). We found evidence for disease association with single nucleotide polymorphisms at both the 5′ and the 3′ end of the gene with pairwise linkage disequilibrium between them. The association was independent of the Rep1 status, and one major SNCA promoter haplotype class seems to be associated with PD susceptibility. GLOSSARY: SNCA = α-synuclein; CI = confidence interval; HT = haplotype-tagging; LD = linkage disequilibrium; OR = odds ratio; PD = Parkinson disease; SNP = single nucleotide polymorphism.

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