机构：[1]Henan Mental Hospital, The Second Affiliated Hospital of Xinxiang MedicalUniversity, Xinxiang, Henan 453002, China[2]Henan Key Lab of BiologicalPsychiatry, International Joint Research Laboratory for Psychiatry andNeuroscience of Henan, Xinxiang Medical University, Xinxiang, Henan 453002,China[3]Key Laboratory of Animal Models and Human Disease Mechanisms ofthe Chinese Academy of Sciences & Yunnan Province, Kunming Institute ofZoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China[4]Department of Forensic Psychiatry, School of Medicine & Forensics, Xi’anJiaotong University Health Science Center, Xi’an, Shaanxi 710061, China[5]Center for Excellence in Animal Evolution and Genetics, Chinese Academy ofSciences, Kunming 650223, China[6]KIZ-CUHK Joint Laboratory of Bioresourcesand Molecular Research in Common Diseases, Kunming Institute of Zoology,Chinese Academy of Sciences, Kunming, Yunnan 650223, China
Early onset schizophrenia (EOS, defined as first onset of schizophrenia before age 18) is a rare form of schizophrenia (SCZ). Though genome-wide association studies (GWASs) have identified multiple risk variants for SCZ, most of the cases included in these GWASs were not stratified according to their first age at onset. To date, the genetic architecture of EOS remains largely unknown. To identify the risk variants and to uncover the genetic basis of EOS, we conducted a two-stage GWAS of EOS in populations of Han Chinese ancestry in this study. We first performed a GWAS using 1,256 EOS cases and 2,661 healthy controls (referred as discovery stage). The genetic variants with a P < 1.0 × 10-04 in discovery stage were replicated in an independent sample (903 EOS cases and 3,900 controls). We identified four genome-wide significant risk loci for EOS in the combined samples (2,159 EOS cases and 6,561 controls), including 1p36.22 (rs1801133, Pmeta = 4.03 × 10-15), 1p31.1 (rs1281571, Pmeta = 4.14 × 10-08), 3p21.31 (rs7626288, Pmeta = 1.57 × 10-09), and 9q33.3 (rs592927, Pmeta = 4.01 × 10-11). Polygenic risk scoring (PRS) analysis revealed substantial genetic overlap between EOS and SCZ. These discoveries shed light on the genetic basis of EOS. Further functional characterization of the identified risk variants and genes will help provide potential targets for therapeutics and diagnostics.
基金：
the National
Nature Science Foundation of China (31970561 to X.-J.L., 81772033 to F.G.) and
the Innovative Research Team of Science and Technology Department of
Yunnan Province (2019HC004). Also was supported by the Distinguished
Young Scientists grant of the Yunnan Province (202001AV070006) to X.-J.L. This study was also supported by the key scientific and technological projects of
Henan province (182102310155 and 132102310446 to S.G.), Fundamental
Research Funds for the Central Universities of China (XJJ2018151 to F.G.), the
National Natural Science Foundation of China (81971252 to L.L.), the Science
and Technology Project of Henan Province (192102310086, W.L.), the High
Scientific and Technological Research Fund of Xinxiang Medical University
(2017ZDCG-04 to L.L.). The open research fund from Xinxiang Medical
University (ZDSYS2019001, J.L.).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2021]版：
大类|2 区医学
小类|2 区精神病学
最新[2023]版：
大类|1 区医学
小类|1 区精神病学
第一作者：
第一作者机构：[1]Henan Mental Hospital, The Second Affiliated Hospital of Xinxiang MedicalUniversity, Xinxiang, Henan 453002, China[2]Henan Key Lab of BiologicalPsychiatry, International Joint Research Laboratory for Psychiatry andNeuroscience of Henan, Xinxiang Medical University, Xinxiang, Henan 453002,China
共同第一作者：
通讯作者：
通讯机构：[3]Key Laboratory of Animal Models and Human Disease Mechanisms ofthe Chinese Academy of Sciences & Yunnan Province, Kunming Institute ofZoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China[5]Center for Excellence in Animal Evolution and Genetics, Chinese Academy ofSciences, Kunming 650223, China[6]KIZ-CUHK Joint Laboratory of Bioresourcesand Molecular Research in Common Diseases, Kunming Institute of Zoology,Chinese Academy of Sciences, Kunming, Yunnan 650223, China
推荐引用方式(GB/T 7714)：
Guo Suqin,Liu Jiewei,Li Wenqiang,et al.Genome wide association study identifies four loci for early onset schizophrenia.[J].Translational psychiatry.2021,11(1):248.doi:10.1038/s41398-021-01360-4.
APA：
Guo Suqin,Liu Jiewei,Li Wenqiang,Yang Yongfeng,Lv Luxian...&Luo Xiong-Jian.(2021).Genome wide association study identifies four loci for early onset schizophrenia..Translational psychiatry,11,(1)
MLA：
Guo Suqin,et al."Genome wide association study identifies four loci for early onset schizophrenia.".Translational psychiatry 11..1(2021):248
医学