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Advances in understanding stroke risk in children – a geneticist's view
Author(s) -
Stoll Monika,
Rühle Frank,
NowakGöttl Ulrike
Publication year - 2014
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12706
Subject(s) - genome wide association study , genetic architecture , geneticist , genetic association , stroke (engine) , disease , candidate gene , biobank , medicine , bioinformatics , genetics , biology , single nucleotide polymorphism , pathology , gene , genotype , mechanical engineering , engineering , phenotype
Summary The advent of the genomic era has provided novel insights into the genetic architecture of common complex diseases, such as thrombophilia and stroke. Since 2006, a growing number of genome wide association studies ( GWAS ) for common complex diseases have revealed new candidate loci and genomic regions that play an important role in disease aetiology and progression. While GWAS on the above mentioned traits are abundant in adults, similar studies in paediatric study cohorts are lagging behind. However, genetic research in this important clinical area has gained momentum and starts to provide us with exciting insights into the genetic underpinnings of stroke with paediatric onset. Here we review recent advances in genetic association studies underlying stroke in children and aim to translate the results to clinical utility. These studies comprise candidate gene approaches and GWAS , and represent the current status on what we have learnt about the genetic architecture underlying paediatric stroke, and how this may affect medical practice in the years to come.