Journal
CELL REPORTS
Volume 24, Issue 11, Pages 2838-2856Publisher
CELL PRESS
DOI: 10.1016/j.celrep.2018.08.022
Keywords
-
Categories
Funding
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Ministry of Health, Labour and Welfare of Japan
- AMED [JP18dm0107087, JP18dm0207005, JP18dk0307075, JP18dk0307081, JP18dm0107097, JP18dm0107089, JP18dm0107092, JP18dm0207006, JP18dm0207004, JP18dm0107083, JP18dm0107088]
- Strategic Research Program for Brain Sciences (SRPBS
- Project E and F)
- UTokyo Center for Integrative Science of Human Behavior (CiSHuB)
- international Research Center for Neurointelligence (WPI-IRCN) at The University of Tokyo Institutes for Advanced Study (UTIAS)
- Research Group For Schizophrenia
- Program for Advancing Strategic International Networks to Accelerate the Circulation of Talented Researchers of Japan Society for the Promotion of Science
- SENSHIN Medical Research Foundation
- Uehara Memorial Foundation
- [JP16H06277]
- Grants-in-Aid for Scientific Research [18K15512] Funding Source: KAKEN
Ask authors/readers for more resources
Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls. Phenotypic analysis revealed an association between clinically significant CNVs and intellectual disability. Gene set analysis showed significant over-lap of biological pathways in both disorders including oxidative stress response, lipid metabolism/modification, and genomic integrity. Finally, based on bioinformatics analysis, we identified multiple disease-relevant genes in eight well-known ASD/SCZ associated CNV loci (e.g., 22q11.2, 3q29). Our findings suggest an etiological overlap of ASD and SCZ and provide biological insights into these disorders.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available