2023
A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study
Guo X, Wang S, Lin X, Wang Z, Dou Y, Cao Y, Zhang Y, Luo X, Kang L, Yu T, Wang Z, Tan Y, Gao S, Zheng H, Zhao F, Wang H, Wang K, Xie F, Chen W, Luo X. A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study. Psychiatric Genetics 2023, 33: 182-190. PMID: 37706495, PMCID: PMC10502955, DOI: 10.1097/ypg.0000000000000344.Peer-Reviewed Original ResearchConceptsGray matter volumeBrain regionsMRNA expressionSubcortical structuresPathogenesis of schizophreniaRisk variantsRisk genesMultiple brain regionsCortical surface areaPotential regulatory effectsHealthy subjectsMatter volumeSignificant associationCortical regionsSame effect directionSchizophreniaNovel risk variantsSchizophrenia risk allelesAssociation studiesCACNA1CIndependent samplesRegulatory effectsNumerous genome-wide association studiesTop risk genesValidation study
2021
An independent, replicable, functional and significant risk variant block at intron 3 of CACNA1C for schizophrenia
Wang Z, Chen W, Cao Y, Dou Y, Fu Y, Zhang Y, Luo X, Kang L, Liu N, Shi YS, Li CR, Xu Y, Guo X, Luo X. An independent, replicable, functional and significant risk variant block at intron 3 of CACNA1C for schizophrenia. Australian & New Zealand Journal Of Psychiatry 2021, 56: 385-397. PMID: 33938268, DOI: 10.1177/00048674211009595.Peer-Reviewed Original ResearchConceptsMessenger RNA expressionGray matter volumeMatter volumeSingle nucleotide polymorphismsRisk allelesRNA expressionPathogenesis of schizophreniaSingle nucleotide polymorphism (SNP) rs1006737Isthmus cingulate cortexMinor allele ARisk single nucleotide polymorphismsBrain cohortCingulate cortexBrain regionsCortical regionsSubcortical structuresSchizophreniaRs1006737Allele ARegulatory effectsRisk genesSignificant risk genesCohortCortexAfrican American sample