Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke.
Ibanez LauraLaura HeitschCaty CarreraFabiana H G FariasRajat DharJohn BuddeKristy BergmannJoseph BradleyOscar HarariChia-Ling PhuahRobin LemmensAlessandro A Viana Oliveira SouzaFrancisco MonicheAntonio Cabezas-JuanJuan Francisco ArenillasJerzy KrupinksiNatalia CullellNuria Torres-AguilaElena MuiñoJara Cárcel-MárquezJoan Marti-FabregasRaquel Delgado-MederosRebeca Marin-BuenoAlejandro HornickCristofol Vives-BauzaRosa Diaz NavarroSilvia TurCarmen JimenezVictor ObachTomas SeguraGemma Serrano-HerasJong-Won ChungJaume RoquerCarol Soriano-TarragaEva Giralt-SteinhauerMarina Mola-CaminalJoanna PeraKatarzyna Lapicka-BodziochJustyna DerbiszAntoni DavalosElena Lopez-CancioLucia MuñozTurgut TatlisumakCarlos MolinaMarc RiboAlejandro BustamanteTomas SobrinoJose Castillo-SanchezFrancisco CamposEmilio Rodriguez-CastroSusana Arias-RivasManuel Rodríguez-YáñezChristina HerbosaAndria L FordAntonio ArauzIscia Lopes-CendesTheodore LowenkopfMiguel A BarbozaHajar AminiBoryana StamovaBradley P AnderFrank R SharpGyeong Moon KimOh Young BangJordi Jimenez-CondeAgnieszka SlowikDaniel StribianEllen A TsaiLinda C BurklyJoan MontanerIsrael Fernandez-CadenasJin-Moo LeeCarlos CruchagaPublished in: medRxiv : the preprint server for health sciences (2020)
Evidence before this study: No previous genome-wide association studies have investigated the genetic architecture of early outcomes after ischemic stroke.Added Value of this study: This is the first study that investigated genetic influences on early outcomes after ischemic stroke using a genome-wide approach, revealing seven genome-wide significant loci. A unique aspect of this genetic study is the inclusion of all of the major ethnicities by recruiting from participants throughout the world. Most genetic studies to date have been limited to populations of European ancestry.Implications of all available evidence: The findings provide the first evidence that genes implicating excitotoxicity contribute to human acute ischemic stroke, and demonstrates proof of principle that GWAS of acute ischemic stroke patients can reveal mechanisms involved in ischemic brain injury.
Keyphrases
- genome wide
- acute ischemic stroke
- brain injury
- dna methylation
- copy number
- gene expression
- endothelial cells
- end stage renal disease
- subarachnoid hemorrhage
- oxidative stress
- peritoneal dialysis
- intensive care unit
- single cell
- high resolution
- cerebral ischemia
- atomic force microscopy
- respiratory failure
- patient reported