FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2896695232> ?p ?o ?g. }

• W2896695232 abstract "Background: The genetic architecture of ischemic stroke (IS) is poorly understood and may differ by age of onset. To identify stroke susceptibility variants, genes and pathways for IS in young adults, we genotyped participants in the Genetics of Early-Onset Stroke (GEOS) with an exome array to interrogate the protein-coding portion of genes. Methods: The GEOS Study was initiated as a biracial population-based study of cases with first-ever ischemic stroke 15 to 49 years of age (n=828) and controls (n=850). All participants had prior GWAS and underwent Illumina exome-chip genotyping. Mixed model regression in EMMAX was conducted to calculate variant-specific associations using pooled European-Caucasians (EUR) and African-Americans (AA) samples, with population structure controlled by kinship matrix relationships using GWAS data. Gene-based burden testing and meta-analysis were performed using seqMeta with ethnicity-specific GWAS PCs. In both analyses covariates included age and gender. This was followed by Ingenuity Pathway Analyses on the top genes. Results: While no individual SNPs reached chip-wide significance (3x10 -7 ), several were near, including one exonic variant in TRAPPC11 (rs67383011, p=1.7*10 -6 ). Gene-based burden testing using a filter (cumulative MAC>40, # of SNPs per gene≥2, missingness=0) was performed on 6934 genes in EURs and 9423 genes in AAs. While several interesting genes were identified, notably in methylation pathways, none reached statistical significance in the ethnicity-stratified (p=3.3*10 -4 ) or meta-analyses (p=1.1*10 -4 ). Pathway analyses on the top 448 genes (p<0.05) from the gene-based results identified several metabolism and signaling pathways, including: (1) those implicated in the risk for vascular diseases: glucose metabolism, lipid metabolism, and inflammation (leukocyte extravasation, IL-17A); (2) neurotrophic signaling: CTNF and NGF, and; (3) neurotransmitter and neuroactive compound signaling: GABA receptor signaling and tryptophan degradation pathways. Efforts in additional data sets to replicate these findings are ongoing. Conclusion: Exome-based analyses in the setting of early-onset stroke is a promising methodology to identify novel genetic risk variants, loci and pathways." @default.
• W2896695232 created "2018-10-26" @default.
• W2896695232 creator A5001592746 @default.
• W2896695232 creator A5009990140 @default.
• W2896695232 creator A5014530070 @default.
• W2896695232 creator A5016230559 @default.
• W2896695232 creator A5027947946 @default.
• W2896695232 creator A5035288893 @default.
• W2896695232 creator A5039071076 @default.
• W2896695232 creator A5045747754 @default.
• W2896695232 creator A5046467190 @default.
• W2896695232 creator A5046703707 @default.
• W2896695232 creator A5054307759 @default.
• W2896695232 creator A5067846233 @default.
• W2896695232 creator A5068555852 @default.
• W2896695232 creator A5074540352 @default.
• W2896695232 creator A5077333999 @default.
• W2896695232 creator A5082192580 @default.
• W2896695232 creator A5088230759 @default.
• W2896695232 date "2018-01-22" @default.
• W2896695232 modified "2023-09-22" @default.
• W2896695232 title "Abstract WP160: Exome Array Analysis of Early-Onset Ischemic Stroke" @default.
• W2896695232 doi "https://doi.org/10.1161/str.49.suppl_1.wp160" @default.
• W2896695232 hasPublicationYear "2018" @default.
• W2896695232 type Work @default.
• W2896695232 sameAs 2896695232 @default.
• W2896695232 citedByCount "0" @default.
• W2896695232 crossrefType "journal-article" @default.
• W2896695232 hasAuthorship W2896695232A5001592746 @default.
• W2896695232 hasAuthorship W2896695232A5009990140 @default.
• W2896695232 hasAuthorship W2896695232A5014530070 @default.
• W2896695232 hasAuthorship W2896695232A5016230559 @default.
• W2896695232 hasAuthorship W2896695232A5027947946 @default.
• W2896695232 hasAuthorship W2896695232A5035288893 @default.
• W2896695232 hasAuthorship W2896695232A5039071076 @default.
• W2896695232 hasAuthorship W2896695232A5045747754 @default.
• W2896695232 hasAuthorship W2896695232A5046467190 @default.
• W2896695232 hasAuthorship W2896695232A5046703707 @default.
• W2896695232 hasAuthorship W2896695232A5054307759 @default.
• W2896695232 hasAuthorship W2896695232A5067846233 @default.
• W2896695232 hasAuthorship W2896695232A5068555852 @default.
• W2896695232 hasAuthorship W2896695232A5074540352 @default.
• W2896695232 hasAuthorship W2896695232A5077333999 @default.
• W2896695232 hasAuthorship W2896695232A5082192580 @default.
• W2896695232 hasAuthorship W2896695232A5088230759 @default.
• W2896695232 hasConcept C104317684 @default.
• W2896695232 hasConcept C10590036 @default.
• W2896695232 hasConcept C126322002 @default.
• W2896695232 hasConcept C127413603 @default.
• W2896695232 hasConcept C16671776 @default.
• W2896695232 hasConcept C2777767895 @default.
• W2896695232 hasConcept C2779134260 @default.
• W2896695232 hasConcept C2780645631 @default.
• W2896695232 hasConcept C2908647359 @default.
• W2896695232 hasConcept C3020199598 @default.
• W2896695232 hasConcept C501734568 @default.
• W2896695232 hasConcept C541997718 @default.
• W2896695232 hasConcept C54355233 @default.
• W2896695232 hasConcept C71924100 @default.
• W2896695232 hasConcept C78519656 @default.
• W2896695232 hasConcept C81941488 @default.
• W2896695232 hasConcept C86803240 @default.
• W2896695232 hasConcept C9287583 @default.
• W2896695232 hasConcept C99454951 @default.
• W2896695232 hasConceptScore W2896695232C104317684 @default.
• W2896695232 hasConceptScore W2896695232C10590036 @default.
• W2896695232 hasConceptScore W2896695232C126322002 @default.
• W2896695232 hasConceptScore W2896695232C127413603 @default.
• W2896695232 hasConceptScore W2896695232C16671776 @default.
• W2896695232 hasConceptScore W2896695232C2777767895 @default.
• W2896695232 hasConceptScore W2896695232C2779134260 @default.
• W2896695232 hasConceptScore W2896695232C2780645631 @default.
• W2896695232 hasConceptScore W2896695232C2908647359 @default.
• W2896695232 hasConceptScore W2896695232C3020199598 @default.
• W2896695232 hasConceptScore W2896695232C501734568 @default.
• W2896695232 hasConceptScore W2896695232C541997718 @default.
• W2896695232 hasConceptScore W2896695232C54355233 @default.
• W2896695232 hasConceptScore W2896695232C71924100 @default.
• W2896695232 hasConceptScore W2896695232C78519656 @default.
• W2896695232 hasConceptScore W2896695232C81941488 @default.
• W2896695232 hasConceptScore W2896695232C86803240 @default.
• W2896695232 hasConceptScore W2896695232C9287583 @default.
• W2896695232 hasConceptScore W2896695232C99454951 @default.
• W2896695232 hasIssue "Suppl_1" @default.
• W2896695232 hasLocation W28966952321 @default.
• W2896695232 hasOpenAccess W2896695232 @default.
• W2896695232 hasPrimaryLocation W28966952321 @default.
• W2896695232 hasRelatedWork W1563365768 @default.
• W2896695232 hasRelatedWork W1977206754 @default.
• W2896695232 hasRelatedWork W1984245443 @default.
• W2896695232 hasRelatedWork W1997621094 @default.
• W2896695232 hasRelatedWork W2010457736 @default.
• W2896695232 hasRelatedWork W2014518263 @default.
• W2896695232 hasRelatedWork W2029557852 @default.
• W2896695232 hasRelatedWork W2076709235 @default.
• W2896695232 hasRelatedWork W2095200802 @default.
• W2896695232 hasRelatedWork W2098362286 @default.
• W2896695232 hasRelatedWork W2765794416 @default.
• W2896695232 hasRelatedWork W2767457257 @default.
• W2896695232 hasRelatedWork W2895831028 @default.

• next