A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson's Disease
A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson's Disease
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DOI：
10.1007/s12031-011-9669-1
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发表时间：
2012-07-01
影响因子：
3.1
通讯作者：
Alvarez, Victoria
中科院分区：
文献类型：
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作者：
Cardo, Lucia F.;Coto, Eliecer;Alvarez, Victoria
α-突触核蛋白基因（SNCA）多态性与帕金森病（PD）的常见散发形式有关。我们通过单链构象分析和直接测序在西班牙PD患者和对照组中搜索SNCA 3' UTR处的DNA变体。我们对来自两个西班牙队列（阿斯图里亚斯和纳瓦拉）的总共1,135名PD患者和772名健康对照进行了rs356165 SNCA 3' UTR多态性基因分型。我们鉴定了六个SNCA 3' UTR变体。单核苷酸多态性（SNP）rs356165与西班牙队列的PD风险显著相关（p = 0.0001;比值比= 1.37，95%CI = 1.19-1.58）。该SNP也与PD发病时的早期年龄显著相关。我们的工作强调了rs356165是发展PD和发病年龄较早的风险的重要决定因素，并鼓励未来的研究确定对SNCA表达的功能性影响。
Alpha-synuclein gene (SNCA) polymorphisms have been associated with the common sporadic form of Parkinson's disease (PD). We searched for DNA variants at the SNCA 3' UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165 SNCA 3' UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six SNCA 3' UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (p = 0.0001; odd ratio = 1.37, 95%CI = 1.19-1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on SNCA expression.