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

Hong Chang; Lingyi Li; Ming Li; Xiao Xiao

doi:10.1016/j.schres.2016.11.031

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

Schizophr Res. 2017 Jun:184:105-108. doi: 10.1016/j.schres.2016.11.031. Epub 2016 Nov 23.

Authors

Hong Chang¹, Lingyi Li¹, Ming Li², Xiao Xiao³

Affiliations

¹ Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China.
² Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China. Electronic address: limingkiz@mail.kiz.ac.cn.
³ Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China. Electronic address: xiaoxiao2@mail.kiz.ac.cn.

PMID: 27889382
DOI: 10.1016/j.schres.2016.11.031

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.

Keywords: 16p11.2 duplication; Copy number variation; GWAS; Schizophrenia.

Publication types

Meta-Analysis
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Duplication
Chromosomes, Human, Pair 16 / genetics*
DNA Copy Number Variations / genetics*
Gene Duplication
Genetic Predisposition to Disease
Genome-Wide Association Study*
Humans
Schizophrenia / genetics*