2023
Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke
Xie Y, Acosta J, Ye Y, Demarais Z, Conlon C, Chen M, Zhao H, Falcone G. Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke. Stroke 2023, 54: 800-809. PMID: 36762557, PMCID: PMC10467223, DOI: 10.1161/strokeaha.122.040883.Peer-Reviewed Original ResearchConceptsGene-based testingRare genetic variationGene-based analysisGenetic variationAssociation studiesGenome-wide association studiesSingle-variant association analysisWide significance levelSusceptibility risk lociWide association studyDeleterious missense variantsMissense rare variantsBonferroni-corrected thresholdWhole-exome sequencing dataRare variantsSingle variant analysisHeritable traitRisk lociExome-wide studySequencing dataExome sequencing analysisAssociation analysisSequencing analysisMissense variantsTraits
2016
Low-frequency and common genetic variation in ischemic stroke
Malik R, Traylor M, Pulit SL, Bevan S, Hopewell JC, Holliday EG, Zhao W, Abrantes P, Amouyel P, Attia JR, Battey TW, Berger K, Boncoraglio GB, Chauhan G, Cheng YC, Chen WM, Clarke R, Cotlarciuc I, Debette S, Falcone GJ, Ferro JM, Gamble DM, Ilinca A, Kittner SJ, Kourkoulis CE, Lemmens R, Levi CR, Lichtner P, Lindgren A, Liu J, Meschia JF, Mitchell BD, Oliveira SA, Pera J, Reiner AP, Rothwell PM, Sharma P, Slowik A, Sudlow CL, Tatlisumak T, Thijs V, Vicente AM, Woo D, Seshadri S, Saleheen D, Rosand J, Markus HS, Worrall BB, Dichgans M. Low-frequency and common genetic variation in ischemic stroke. Neurology 2016, 86: 1217-1226. PMID: 26935894, PMCID: PMC4818561, DOI: 10.1212/wnl.0000000000002528.Peer-Reviewed Original ResearchConceptsIndividual genome-wide association studiesLow-frequency genetic variantsGenome-wide association studiesCommon genetic variationHigh-frequency variantsGenomes Phase ILow-frequency variantsGenetic variationAssociation studiesFrequency variantsSignificant enrichmentGenetic variantsAllele frequenciesPITX2Rare variantsSouth Asian sampleWider significanceVariantsEnrichmentLociDiscovery phaseHDAC9P-value distributionsHeritabilityZFHX3