Cited by 37Schizophrenia research and treatmentGenomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Rare and common variants at 16p11.2 are associated with schizophrenia

Chang, Hong, Li, Lingyi, Li, Ming, Xiao, Xiao·2017·Schizophrenia Research

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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Crossref · 10.1016/j.schres.2016.11.031

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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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