Genome-Wide Association Study Identifies Novel Genetic Variants Associated with Avascular Necrosis in Sickle Cell Disease
Sowa A, Hu Y, Gladwin M, Gordeuk V, Nouraie S, Zhang Y, Pashankar F, Krishnamurti L, Gruen J. Genome-Wide Association Study Identifies Novel Genetic Variants Associated with Avascular Necrosis in Sickle Cell Disease. Blood 2024, 144: 5297-5297. DOI: 10.1182/blood-2024-207552.Peer-Reviewed Original ResearchGenome-wide association studiesChromosome 1Enhancer regionGenome-wide significance thresholdNon-coding RNA genesLong non-coding RNA genesGenome-wide significanceGenotype call rateHardy-Weinberg equilibriumSickle cell diseaseRNA genesLinkage disequilibriumPopulation stratificationAssociation studiesDiagnosis of sickle cell diseaseRegulatory elementsAvascular necrosisCohort of individualsGene studiesAllele frequenciesMultivariate logistic regression analysisLogistic regression analysisSNPsGenetic associationCall rateGenome-Wide Association Study of Chronic Pain in Sickle Cell Disease
Sowa A, Hu Y, Gladwin M, Gordeuk V, Nouraie S, Zhang Y, Pashankar F, Krishnamurti L, Gruen J. Genome-Wide Association Study of Chronic Pain in Sickle Cell Disease. Blood 2024, 144: 5298. DOI: 10.1182/blood-2024-208093.Peer-Reviewed Original ResearchGenome-wide association studiesChronic painSickle cell diseaseGenome-wide association study studiesCHD2 geneGenome-wide significance thresholdAssociated with cognitive functionGenome-wide significancePatient-reported painStudy of chronic painModify chromatin structureFamily of genesSubtypes of sickle cell diseaseProportional odds logistic regressionHardy-Weinberg equilibriumChronic pain levelsCohort of individualsCell diseaseWell-phenotyped cohortAssociation of genetic polymorphismsEpisodes of acute painSickle cell disease patientsPopulation stratificationAtypical absence seizuresChromatin structure