title: Copy number variations and stroke.
abstract: 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.
authors.affiliation: Institute of Neurological Sciences, CNR, National Research Council, Loc.Burga, 87050, Mangone, CS, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Colaianni
authors.affiliation: Institute of Neurological Sciences, CNR, National Research Council, Loc.Burga, 87050, Mangone, CS, Italy. rosalucia.mazzei@cnr.it.
authors.forename: Rosalucia
authors.identifier: http://orcid.org/0000-0001-6619-6075
authors.initials: R
authors.lastname: Mazzei
authors.affiliation: Institute of Neurological Sciences, CNR, National Research Council, Loc.Burga, 87050, Mangone, CS, Italy.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Cavallaro
mesh_terms: D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020521:Stroke / Q000145:classification / Q000235:genetics*
keywords: Comparative genome hybridization (CGH) arrays; DNA copy number variants; Single-nucleotide polymorphism (SNP) arrays; Stroke