An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Chung R, Ma D, Wang K, Hedges D, Jaworski J, Gilbert J, Cuccaro M, Wright H, Abramson R, Konidari I, Whitehead P, Schellenberg G, Hakonarson H, Haines J, Pericak-Vance M, Martin E. An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Molecular Autism 2011, 2: 18. PMID: 22050706, PMCID: PMC3305893, DOI: 10.1186/2040-2392-2-18.Peer-Reviewed Original ResearchX chromosome-wide association studyX chromosomeGenome-wide association study dataCase-control data setsAutism spectrum disorder (ASD) candidate geneChromosome-wide significanceGWAS data setsAssociation study dataReplication analysisDiscovery data setFamily data setsStrong genetic componentSame geneCandidate genesTransducin βAssociation studiesGenesXp22.3 regionLinkage disequilibriumGenetic componentSusceptibility genesAutism familiesSkewed prevalenceSNPsReplication thresholdGenetic analysis of biological pathway data through genomic randomization
Yaspan B, Bush W, Torstenson E, Ma D, Pericak-Vance M, Ritchie M, Sutcliffe J, Haines J. Genetic analysis of biological pathway data through genomic randomization. Human Genetics 2011, 129: 563-571. PMID: 21279722, PMCID: PMC3107984, DOI: 10.1007/s00439-011-0956-2.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGWAS datasetsWide association studyRandomization Incorporating StructurePotential epistatic effectsGWAS resultsGene sizeSNP coverageKEGG databaseBiological pathway dataSingle locusEpistatic effectsGenetic analysisPathway analysisAssociation studiesSNP allelesAssociation resultsAssociation analysis methodLinkage disequilibriumSignificant enrichmentPathway dataPathway sizeVariants of interestMultiple testing correctionSmall main effect