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Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.
Guo, Margaret G; Reynolds, David L; Ang, Cheen E; Liu, Yingfei; Zhao, Yang; Donohue, Laura K H; Siprashvili, Zurab; Yang, Xue; Yoo, Yongjin; Mondal, Smarajit; Hong, Audrey; Kain, Jessica; Meservey, Lindsey; Fabo, Tania; Elfaki, Ibtihal; Kellman, Laura N; Abell, Nathan S; Pershad, Yash; Bayat, Vafa; Etminani, Payam; Holodniy, Mark; Geschwind, Daniel H; Montgomery, Stephen B; Duncan, Laramie E; Urban, Alexander E; Altman, Russ B; Wernig, Marius; Khavari, Paul A.
Afiliación
  • Guo MG; Stanford Program in Biomedical Informatics, Stanford University, Stanford, CA, USA.
  • Reynolds DL; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Ang CE; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Liu Y; Department of Pathology, Stanford University, Stanford, CA, USA.
  • Zhao Y; Department of Bioengineering, Stanford University, Stanford, CA, USA.
  • Donohue LKH; Institute for Stem Cell Biology & Regenerative Medicine, Stanford University, Stanford, CA, USA.
  • Siprashvili Z; Institute for Stem Cell Biology & Regenerative Medicine, Stanford University, Stanford, CA, USA.
  • Yang X; Institute of Neurobiology, Xi'an Jiaotong University Health Science Center, Xi'an, China.
  • Yoo Y; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Mondal S; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Hong A; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Kain J; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Meservey L; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Fabo T; Stanford Program in Cancer Biology, Stanford University, Stanford, CA, USA.
  • Elfaki I; Institute for Stem Cell Biology & Regenerative Medicine, Stanford University, Stanford, CA, USA.
  • Kellman LN; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Abell NS; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Pershad Y; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Bayat V; Department of Biology, Stanford University, Stanford, CA, USA.
  • Etminani P; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Holodniy M; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Geschwind DH; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Duncan LE; Program in Epithelial Biology, Stanford University, Stanford, CA, USA.
  • Urban AE; Stanford Program in Cancer Biology, Stanford University, Stanford, CA, USA.
  • Altman RB; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Wernig M; Department of Bioengineering, Stanford University, Stanford, CA, USA.
  • Khavari PA; Bitscopic Inc., Los Angeles, CA, USA.
Nat Genet ; 55(11): 1876-1891, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37857935
ABSTRACT
Noncoding variants of presumed regulatory function contribute to the heritability of neuropsychiatric disease. A total of 2,221 noncoding variants connected to risk for ten neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, bipolar disorder, borderline personality disorder, major depression, generalized anxiety disorder, panic disorder, post-traumatic stress disorder, obsessive-compulsive disorder and schizophrenia, were studied in developing human neural cells. Integrating epigenomic and transcriptomic data with massively parallel reporter assays identified differentially-active single-nucleotide variants (daSNVs) in specific neural cell types. Expression-gene mapping, network analyses and chromatin looping nominated candidate disease-relevant target genes modulated by these daSNVs. Follow-up integration of daSNV gene editing with clinical cohort analyses suggested that magnesium transport dysfunction may increase neuropsychiatric disease risk and indicated that common genetic pathomechanisms may mediate specific symptoms that are shared across multiple neuropsychiatric diseases.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esquizofrenia / Trastorno por Déficit de Atención con Hiperactividad / Trastorno Bipolar / Trastorno Depresivo Mayor / Trastorno del Espectro Autista / Trastorno Obsesivo Compulsivo Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esquizofrenia / Trastorno por Déficit de Atención con Hiperactividad / Trastorno Bipolar / Trastorno Depresivo Mayor / Trastorno del Espectro Autista / Trastorno Obsesivo Compulsivo Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos