title: Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics?
abstract: Stroke is a major cause of mortality and morbidity in both the developed and developing world. Next generation sequencing (NGS) and multi-omics integrative biology research offer new opportunities in the way we research and understand stroke. These biotechnologies also signal a shift from genetics to genomics of stroke, which is highlighted in this review. Stroke is a focal neurological deficit resulting from disruption of the cerebral blood supply. There are two main types of common stroke, ischemic stroke (IS), which comprises 80% of cases, and hemorrhagic stroke (HS) that accounts for about 20% of cases. IS is a complex multi-factorial disease with multiple environmental and genomic determinants. We discuss here IS from genomics and bioinformatics perspectives, including the highlights of the genome wide association studies (GWAS), NGS progress to date, and exome studies. While both 'common variant, common disease' and 'rare variant, common disease' approaches need to be assessed in tandem, future studies into IS omics should also consider pedigree and/or community based sampling to take account of the complex diversity of IS genetics. We conclude by presenting an example of such community genomics research from China in an extended pedigree sample, and the ways in which the intersection of genomics and global society can usefully inform our understanding of IS pathophysiology and potential preventive medicine interventions in the future.
authors.affiliation: 1 School of Medical Sciences, Edith Cowan University , Perth, Australia .|3 Centre for Comparative Genomics, Murdoch University , Perth, Australia .
authors.forename: Michael
authors.initials: M
authors.lastname: Black
authors.affiliation: 2 Beijing Neurosurgical Institute, School of Public Health, Capital Medical University , Beijing, China .|4 Beijing Municipal Key Laboratory of Clinical Epidemiology, School of Public Health, Capital Medical University , Beijing, China .
authors.forename: Wenzhi
authors.initials: W
authors.lastname: Wang
authors.affiliation: 1 School of Medical Sciences, Edith Cowan University , Perth, Australia .|4 Beijing Municipal Key Laboratory of Clinical Epidemiology, School of Public Health, Capital Medical University , Beijing, China .
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
mesh_terms: D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D020521:Stroke / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology