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

被引：26
|
作者：
Chang, Hong [1 ]
Li, Lingyi [1 ]
Li, Ming [1 ]
Xiao, Xiao [1 ]
机构：
[1] Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China
来源：
SCHIZOPHRENIA RESEARCH | 2017年 / 184卷
关键词：
Schizophrenia; 16p11.2; duplication; Copy number variation; GWAS; COPY NUMBER VARIATION; POTENTIAL ROLE; CNV ANALYSIS; DUPLICATION; DELETIONS; POPULATION; DISORDERS; RISK;
D O I：
10.1016/j.schres.2016.11.031
中图分类号：
R749 [精神病学];
学科分类号：
100205 ;
摘要：
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 (29.6-30.2 Mb, hg19) to be strongly associated with the illness (P value < 2.2 x 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 x 10(-11), OR = 1.073). These results confirm the link between 16p11.2 genomic region and genetic risk of schizophrenia. (C) 2016 Elsevier B.V. All rights reserved.
引用
收藏
页码：105 / 108
页数：4
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