Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor

The genome-wide presence of copy number variations (CNVs), which was shown to affect the expression and function of genes, has been recently suggested to confer risk for various human disorders, including Amyotrophic Lateral Sclerosis (ALS). We have performed a genome-wide CNV analysis using PennCNV tool and 733K GWAS data of 117 Turkish ALS patients and 109 matched healthy controls. Case-control association analyses have implicated the presence of both common (>5%) and rare (

拷贝数变异（copy number variations, CNVs）广泛分布于全基因组范围，既往研究已证实其可影响基因的表达与功能，近期更有研究提示这类变异会增加多种人类疾病的患病风险，其中包括肌萎缩侧索硬化（Amyotrophic Lateral Sclerosis, ALS）。本研究使用PennCNV分析工具，基于117名土耳其肌萎缩侧索硬化患者与109名匹配健康对照者的733K全基因组关联研究（Genome-Wide Association Study, GWAS）数据，开展了全基因组拷贝数变异分析。病例-对照关联分析结果表明，既存在频率大于5%的常见拷贝数变异，也存在罕见（