Shared genetic risk of schizophrenia and gray matter reduction in 6p22.1

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Jiayu Chen - , The Mind Research Network (Autor:in)
  • Vince D. Calhoun - , The Mind Research Network, University of New Mexico (Autor:in)
  • Dongdong Lin - , The Mind Research Network (Autor:in)
  • Nora I. Perrone-Bizzozero - , University of New Mexico (Autor:in)
  • Juan R. Bustillo - , University of New Mexico (Autor:in)
  • Godfrey D. Pearlson - , Institute of Living, Yale University (Autor:in)
  • Steven G. Potkin - , University of California at Irvine (Autor:in)
  • Theo G.M. Van Erp - , University of California at Irvine (Autor:in)
  • Fabio MacCiardi - , University of California at Irvine (Autor:in)
  • Stefan Ehrlich - , Psychosoziale Medizin und Entwicklungsneurowissenschaften, Athinoula A. Martinos Center for Biomedical Imaging (Autor:in)
  • Beng Choon Ho - , University of Iowa (Autor:in)
  • Scott R. Sponheim - , University of Minnesota System, Minneapolis Veterans Administration Health Care System (Autor:in)
  • Lei Wang - , Northwestern University (Autor:in)
  • Julia M. Stephen - , The Mind Research Network (Autor:in)
  • Andrew R. Mayer - , The Mind Research Network (Autor:in)
  • Faith M. Hanlon - , The Mind Research Network (Autor:in)
  • Rex E. Jung - , University of New Mexico (Autor:in)
  • Brett A. Clementz - , University of Georgia (Autor:in)
  • Matcheri S. Keshavan - , Harvard University (Autor:in)
  • Elliot S. Gershon - , The University of Chicago (Autor:in)
  • John A. Sweeney - , University of Cincinnati (Autor:in)
  • Carol A. Tamminga - , University of Texas Southwestern Medical Center (Autor:in)
  • Ole A. Andreassen - , University of Oslo (Autor:in)
  • Ingrid Agartz - , University of Oslo, Diakonhjemmet Hospital (Autor:in)
  • Lars T. Westlye - , University of Oslo (Autor:in)
  • Jing Sui - , The Mind Research Network, CAS - Institute of Automation (Autor:in)
  • Yuhui Du - , The Mind Research Network (Autor:in)
  • Jessica A. Turner - , The Mind Research Network, Georgia State University (Autor:in)
  • Jingyu Liu - , The Mind Research Network, University of New Mexico (Autor:in)

Abstract

Genetic factors are known to influence both risk for schizophrenia (SZ) and variation in brain structure. A pressing question is whether the genetic underpinnings of brain phenotype and the disorder overlap. Using multivariate analytic methods and focusing on 1,402 common single-nucleotide polymorphisms (SNPs) mapped from the Psychiatric Genomics Consortium (PGC) 108 regions, in 777 discovery samples, we identified 39 SNPs to be significantly associated with SZ-discriminating gray matter volume (GMV) reduction in inferior parietal and superior temporal regions. The findings were replicated in 609 independent samples. These 39 SNPs in chr6:28308034-28684183 (6p22.1), the most significant SZ-risk region reported by PGC, showed regulatory effects on both DNA methylation and gene expression of postmortem brain tissue and saliva. Furthermore, the regulated methylation site and gene showed significantly different levels of methylation and expression in the prefrontal cortex between cases and controls. In addition, for one regulated methylation site we observed a significant in vivo methylation-GMV association in saliva, suggesting a potential SNP-methylation-GMV pathway. Notably, the risk alleles inferred for GMV reduction from in vivo imaging are all consistent with the risk alleles for SZ inferred from postmortem data. Collectively, we provide evidence for shared genetic risk of SZ and regional GMV reduction in 6p22.1 and demonstrate potential molecular mechanisms that may drive the observed in vivo associations. This study motivates dissecting SZ-risk variants to better understand their associations with focal brain phenotypes and the complex pathophysiology of the illness.

Details

OriginalspracheEnglisch
Seiten (von - bis)222-232
Seitenumfang11
FachzeitschriftSchizophrenia bulletin
Jahrgang45
Ausgabenummer1
PublikationsstatusVeröffentlicht - 1 Jan. 2019
Peer-Review-StatusJa

Externe IDs

PubMed 29474680
ORCID /0000-0003-2132-4445/work/160950899

Schlagworte

Ziele für nachhaltige Entwicklung

Schlagwörter

  • Angular gyrus, Gray matter volume, ICA, PGC, SNP, Supramarginal gyrus