Rare and common variants at 16p11.2 are associated with schizophrenia
Abstract
Recent studies suggest that both common and rare variants are involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 36,676 schizophrenia patients and 48,331 healthy controls from 24 independent samples, we identify the microduplications at 16p11.2 locus (29.6-30.2Mb, hg19) to be strongly associated with the illness (P value<2.2×10-16, CHM-adjusted OR=10.79). The frequency of this microduplication is significantly higher in schizophrenia patients (0.267%) comparing to healthy controls (0.025%). Further, using the largest published genome-wide association study (GWAS) data (36,989 cases and 113,075 controls), we show that common variants at the 16p11.2 locus are also significantly associated with schizophrenia (e.g., rs12691307, P value=4.55×10-11, OR=1.073). These results confirm the link between 16p11.2 genomic region and genetic risk of schizophrenia.
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- Authors
- Chang, H., Li, L., Li, M., & Xiao, X.
- Affiliations
- Kunming Institute of Zoology (CN)
- Corresponding author
- Li, Ming
- Xiao, Xiao
- Venue
- Schizophrenia Research
- Publisher
- Elsevier BV
- Published
- 2017-06
- Volume
- 184
- Pages
- 105-108
- ISSN
- 0920-9964 (ISSN-L)
- OpenAlex
- W2551577134
- Cited by
- 37
- References
- 35
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 4 · 2021: 6 · 2020: 6 · 2019: 2 · 2018: 8 · 2017: 3
- FWCI
- 0.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Schizophrenia Research (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, 16p11.2
- MeSH terms
- Chromosomes, Human, Pair 16, Humans, Schizophrenia, Genetic Predisposition to Disease, Gene Duplication, Genome-Wide Association Study, DNA Copy Number Variations, Chromosome Duplication
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