Copy number variations and stroke

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• 作者：Valeria Colaianni ; Rosalucia Mazzei ; Sebastiano Cavallaro
• 关键词：Stroke ; DNA copy number variants ; Comparative genome hybridization (CGH) arrays ; Single ; nucleotide polymorphism (SNP) arrays
• 刊名：Neurological Sciences
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：37
• 期：12
• 页码：1895-1904
• 全文大小：1,570 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neuroradiology
  Neurosurgery
  Psychiatry
  
• 出版者：Springer Milan
• ISSN：1590-3478
• 卷排序：37

文摘

Stroke is the third leading cause of death worldwide after heart disease and all forms of cancers. Monogenic disorders, genetic, and environmental risk factors contribute to damaging cerebral blood vessels and, consequently, cause stroke. Developments in genomic research led to the discovery of numerous copy number variants (CNVs) that have been recently identified as a new tool for understanding the genetic basis of many diseases. This review discusses the current understanding of the types of stroke, the existing knowledge on the involvement of specific CNVs in stroke as well as the limitations of the methods used for detecting CNVs like SNP-microarray. To confirm an unequivocally association between CNVs and stroke and extend the current findings, it would be desirable to use another methodology to detect smaller CNVs or CNVs in genomic regions poorly covered by this technique, for instance, CGH-array.