2011
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 threshold
2005
Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism
Ma D, Whitehead P, Menold M, Martin E, Ashley-Koch A, Mei H, Ritchie M, DeLong G, Abramson R, Wright H, Cuccaro M, Hussman J, Gilbert J, Pericak-Vance M. Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism. American Journal Of Human Genetics 2005, 77: 377-388. PMID: 16080114, PMCID: PMC1226204, DOI: 10.1086/433195.Peer-Reviewed Original ResearchConceptsGABA receptor subunit genesReceptor subunit genesSingle nucleotide polymorphismsGene-gene interactionsSubunit geneFamily-based association testAssociation analysisComplex gene-gene interactionsGenotype-pedigree disequilibrium testGenotypic associationDisequilibrium testSignificant genetic componentChromosome 4p12Pedigree disequilibrium testMultiple genesEpigenetic effectsSignificant genotypic associationTwo-locus modelSignificant allelic associationAllelic association analysisGenesGenetic componentLinkage testsMarker setGABRB1