Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
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DOI：
10.1002/mds.25732
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发表时间：
2014-02-01
影响因子：
8.6
通讯作者：
Bhatia, Kailash P.
中科院分区：
文献类型：
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作者：
Mok, Kin Y.;Schneider, Susanne A.;Bhatia, Kailash P.
肌张力障碍是一种常见的运动障碍。一些单基因的原因已经确定。然而，大多数肌张力障碍病例不能用单基因缺陷来解释。颈部肌张力障碍是最常见的形式之一，没有遗传原因确定。这项初步研究旨在确定颈部肌张力障碍的大效应量风险位点。进行了全基因组关联研究（GWAS）。使用Illumina-610-Quad对欧洲血统的英国居民宫颈肌张力障碍患者进行基因分型。使用PLINK的逻辑回归算法与来自Wellcome Trust Case Control Consortium的欧洲血统对照进行比较。使用MaCH算法和minimac，用1000个基因组计划数据插补未通过阵列进行基因分型的SNP。采用logistic回归模型，采用mach 2dat算法进行后插补分析。采取质量控制措施后，将212例病例与5173例对照进行比较。在PLINK基因分型SNP分析中，没有单个SNP通过5 × 10（-8）的全基因组显著性水平。插补后，有5个SNP簇具有P值
Dystonia is a common movement disorder. A number of monogenic causes have been identified. However, the majority of dystonia cases are not explained by single gene defects. Cervical dystonia is one of the commonest forms without genetic causes identified. This pilot study aimed to identify large effect-size risk loci in cervical dystonia. A genomewide association study (GWAS) was performed. British resident cervical dystonia patients of European descent were genotyped using the Illumina-610-Quad. Comparison was made with controls of European descent from the Wellcome Trust Case Control Consortium using logistic regression algorithm from PLINK. SNPs not genotyped by the array were imputed with 1000 Genomes Project data using the MaCH algorithm and minimac. Postimputation analysis was done with the mach2dat algorithm using a logistic regression model. After quality control measures, 212 cases were compared with 5173 controls. No single SNP passed the genomewide significant level of 5 x 10(-8) in the analysis of genotyped SNP in PLINK. Postimputation, there were 5 clusters of SNPs that had P value