The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region  

作　　者：Yue Sun Yu Tao Jian Wang David Saffen 

机构地区：[1]Institutes of Brain Science,Fudan University [2]School of Biological Sciences,Fudan University [3]Department of Cellular and Genetic Medicine,School of Basic Medical Sciences,Fudan University [4]Key Laboratory of Exploration and Utilization of Aquatic Genetic Resources,Shanghai Ocean University,Ministry of Education [5]Key Laboratory for Medical Neurobiology,Fudan University

出　　处：《Neuroscience Bulletin》2015年第1期43-52,共10页神经科学通报（英文版）

基　　金：supported by the 985 Program of Ministry of Education,China;the National Basic Research Development Program(973 Program)of China(2009CB522007 and 2010CB529601);the National Natural Science Foundation of China(30870899 and 81070908)

摘　　要：22q 11.2 deletion syndrome（DS） is a complex developmental disorder with a high incidence of psychiatric illnesses,including schizophrenia and mood disorders.Recent studies have identified Guanine Nucleotide Binding Protein（G protein）Beta Polypeptide 1-Like（GNB1L）,located within the 1.5 Mbp 22q11.2 DS critical region,as a candidate liability gene for schizophrenia and bipolar disorder.In this study,we used mRNA expression measurements in Han Chinese postmortem temporal cortex and linkage disequilibrium（LD） analysis to show that GNB1 L is regulated by a cis-acting genetic variant within the 3＇-region of the gene.Significantly,this variant is located within an LD block that contains all of the common SNPs previously shown to associate with schizophrenia and bipolar disorder in Han Chinese and Caucasian populations.Contrary to our expectations,re-analysis of previously published case-control study data in light of our mRNA expression results implies that the GNB1 L highexpression allele is the risk allele for schizophrenia and bipolar disorder in the Han Chinese population.22q 11.2 deletion syndrome（DS） is a complex developmental disorder with a high incidence of psychiatric illnesses,including schizophrenia and mood disorders.Recent studies have identified Guanine Nucleotide Binding Protein（G protein）Beta Polypeptide 1-Like（GNB1L）,located within the 1.5 Mbp 22q11.2 DS critical region,as a candidate liability gene for schizophrenia and bipolar disorder.In this study,we used mRNA expression measurements in Han Chinese postmortem temporal cortex and linkage disequilibrium（LD） analysis to show that GNB1 L is regulated by a cis-acting genetic variant within the 3＇-region of the gene.Significantly,this variant is located within an LD block that contains all of the common SNPs previously shown to associate with schizophrenia and bipolar disorder in Han Chinese and Caucasian populations.Contrary to our expectations,re-analysis of previously published case-control study data in light of our mRNA expression results implies that the GNB1 L highexpression allele is the risk allele for schizophrenia and bipolar disorder in the Han Chinese population.

关 键 词：GNB1L schizophrenia linkage disequilibrium eQTLs cis-regulatory variants 

分 类 号：R749[医药卫生—神经病学与精神病学]