中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses

文献类型:期刊论文

作者Chang H1; Li LY1; Xiao X[*]1; Peng T1; Li M[*]1; Gao L[*]2
刊名Am J Med Genet B Neuropsychiatr Genet
出版日期2016
卷号171期号:8页码:1161-1169
关键词chromosomal deletions copy number variations meta-analyses replication schizophrenia
通讯作者limingkiz@mail.kiz.ac.cn ; xiaoxiao.whu05@gmail.com ; gaolei@sdut.edu.cn
合作状况其它
英文摘要Recent studies suggest that copy number variations (CNVs) are also involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 18,497 schizophrenia patients and 25,522 healthy controls from 14 independent samples, we conducted replication analyses of four chromosomal deletions at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 Loci for their associations with schizophrenia. Only CNVs larger than 100 kb that had >50% reciprocal overlap with the canonical deletion chromosomal regions were considered. We successfully replicate the significant associations at 1q21.1 (P value = 3.101 × 10-7 , odds ratio (OR) = 6.91), 15q13.3 (P value = 4.771 × 10-4 , OR = 7.83), and 22q11.2 (P value = 1.725 × 10-5 , OR = 9.21) deletions, although the effect sizes are relatively smaller than the original studies, which is not unexpected and adds further support for the involvement of these genetic lesions in the risk of schizophrenia. The 15q11.2 deletion, which shows higher frequency in healthy populations than the other three CNV loci, though is not significant in the present meta-analysis (P value = 0.1545, OR = 1.42), it shows the same direction of effects with previous studies. These results further confirm the genetic connections between rare CNVs and schizophrenia, and suggest the importance of adequate sample size in replication analyses for such risk loci with low frequency in general populations.
资助信息Grant sponsor: CAS Pioneer Hundred Talents Program (to M.L.); Grant sponsor: Open Project Program of Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences; Grant number: KLMH2014G03 (to L.G.); Grant sponsor: National Natural Science Foundation of China; Grant number: 31540034 (to L.G.).
收录类别SCI
语种英语
源URL[http://159.226.149.26:8080/handle/152453/10568]  
专题昆明动物研究所_转化基因组
昆明动物研究所_动物模型与人类重大疾病机理重点实验室
作者单位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.Shandong Provincial Research Center for Bioinformatic Engineering and Technique, School of Life Science, Shandong University of Technology, Zibo, China
推荐引用方式
GB/T 7714
Chang H,Li LY,Xiao X[*],et al. Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses[J]. Am J Med Genet B Neuropsychiatr Genet,2016,171(8):1161-1169.
APA Chang H,Li LY,Xiao X[*],Peng T,Li M[*],&Gao L[*].(2016).Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses.Am J Med Genet B Neuropsychiatr Genet,171(8),1161-1169.
MLA Chang H,et al."Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses".Am J Med Genet B Neuropsychiatr Genet 171.8(2016):1161-1169.

入库方式: OAI收割

来源:昆明动物研究所

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