Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
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DOI：
10.1111/j.1600-0404.2008.01019.x
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发表时间：
2008-11-01
影响因子：
3.5
通讯作者：
Farrer, M. J.
中科院分区：
文献类型：
--
作者：
Myhre, R.;Toft, M.;Farrer, M. J.
目的-以前的研究发现帕金森病（PD）和位于α-突触核蛋白基因（SNCA）启动子和其他基因区域的多态性之间的关联。我们的目的是研究SNCA基因标记在一个密切匹配的挪威PD人口，以检查与疾病相关的不同多态性之间的遗传关系。方法：我们对236名PD患者和236名对照者的一个密切匹配的系列中位于SNCA启动子的7个单核苷酸多态性（SNPs）和位于3'基因区的2个SNPs以及位于该基因上的7个微卫星标记进行了基因分型。连锁不平衡（LD）结构进行了检查，并分析了关联的单标记和基因单倍型。结果-位于SNCA基因上的几个标记与PD相关，包括先前研究中与疾病相关的标记等位基因（Rep 1 263-bp等位基因，rs356165和rs356219）。结论-位于SNCA基因上的相关标记等位基因之间的LD表明单一遗传效应可能解释先前报道的启动子和3'区域的关联。
Objectives - Previous studies have found associations between Parkinson's disease (PD) and polymorphisms located within both the alpha-synuclein gene (SNCA) promoter and other gene regions. Our aim was to study SNCA gene markers in a closely matched Norwegian PD population to examine the genetic relationship between different polymorphisms associated with the disease. Methods - We genotyped seven single nucleotide polymorphisms (SNPs) located in the SNCA promoter and two SNPs in the 3' gene region and seven microsatellite markers located across the gene in a closely matched series of 236 PD patients and 236 controls. Linkage disequilibrium (LD) structure was examined, and association of single markers and gene haplotypes analyzed. Results - Several markers located across the SNCA gene were associated with PD, including marker alleles associated with disease in previous studies (Rep1 263-bp allele, rs356165 and rs356219). Conclusion - LD between associated marker alleles located across the SNCA gene suggests that a single genetic effect might explain the previous reported association in the promoter and 3' regions.