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
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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. |
收录类别 | SCI |
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.). |
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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