rs12190758 - U3 - LINC02531
Magnitude 2.2 · 6 studies on file
Reported associations
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Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia. - Nature human behaviour (2025) · Dang X, Teng Z, Yang Y, Li W, Liu J, Hui L, Zhou D, Gong D, Dai SS, Li Y, Li X, Lv L, Zeng Y, Yuan Y, Ma X, Liu Z, Li T, Luo XJ · PubMed 39753749
Genome-wide association studies (GWASs) have reported multiple risk loci for schizophrenia (SCZ). However, the majority of the associations were from populations of European ancestry. Here we conducted a large-scale GWAS in Eastern Asian populations (29,519 cases and 44,392 controls) and identified ten Eastern Asian-specific risk loci, two of which have not been previously reported. A further cross-ancestry GWAS meta-analysis (96,806 cases and 492,818 controls) including populations from diverse ancestries identified 61 previously unreported risk loci. Systematic variant-level analysis, including fine mapping, functional genomics and expression quantitative trait loci, prioritized potential causal variants. Gene-level analyses, including transcriptome-wide association study, proteome-wide
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Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. - Schizophrenia bulletin (2020) · Ikeda M, Takahashi A, Kamatani Y, Momozawa Y, Saito T, Kondo K, Shimasaki A, Kawase K, Sakusabe T, Iwayama Y, Toyota T, Wakuda T, Kikuchi M, Kanahara N, Yamamori H, Yasuda Y, Watanabe Y, Hoya S, Aleksic B, Kushima I, Arai H, Takaki M, Hattori K, Kunugi H, Okahisa Y, Ohnuma T, Ozaki N, Someya T, Hashimoto R, Yoshikawa T, Kubo M, Iwata N · PubMed 30285260
Genome-wide association studies (GWASs) have identified >100 susceptibility loci for schizophrenia (SCZ) and demonstrated that SCZ is a polygenic disorder determined by numerous genetic variants but with small effect size. We conducted a GWAS in the Japanese (JPN) population (a) to detect novel SCZ-susceptibility genes and (b) to examine the shared genetic risk of SCZ across (East Asian [EAS] and European [EUR]) populations and/or that of trans-diseases (SCZ, bipolar disorder [BD], and major depressive disorder [MDD]) within EAS and between EAS and EUR (trans-diseases/populations). Among the discovery GWAS subjects (JPN-SCZ GWAS: 1940 SCZ cases and 7408 controls) and replication dataset (4071 SCZ cases and 54479 controls), both comprising JPN populations, 3 novel susceptibility loci for SC
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Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. - Nature genetics (2017) · Li Z, Chen J, Yu H, He L, Xu Y, Zhang D, Yi Q, Li C, Li X, Shen J, Song Z, Ji W, Wang M, Zhou J, Chen B, Liu Y, Wang J, Wang P, Yang P, Wang Q, Feng G, Liu B, Sun W, Li B, He G, Li W, Wan C, Xu Q, Li W, Wen Z, Liu K, Huang F, Ji J, Ripke S, Yue W, Sullivan PF, O'Donovan MC, Shi Y · PubMed 28991256
We conducted a genome-wide association study (GWAS) with replication in 36,180 Chinese individuals and performed further transancestry meta-analyses with data from the Psychiatry Genomics Consortium (PGC2). Approximately 95% of the genome-wide significant (GWS) index alleles (or their proxies) from the PGC2 study were overrepresented in Chinese schizophrenia cases, including ∼50% that achieved nominal significance and ∼75% that continued to be GWS in the transancestry analysis. The Chinese-only analysis identified seven GWS loci; three of these also were GWS in the transancestry analyses, which identified 109 GWS loci, thus yielding a total of 113 GWS loci (30 novel) in at least one of these analyses. We observed improvements in the fine-mapping resolution at many susceptibility loci.
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Genome-wide association study of schizophrenia in Ashkenazi Jews. - American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2016) · Goes FS, McGrath J, Avramopoulos D, Wolyniec P, Pirooznia M, Ruczinski I, Nestadt G, Kenny EE, Vacic V, Peters I, Lencz T, Darvasi A, Mulle JG, Warren ST, Pulver AE · PubMed 26198764
Schizophrenia is a common, clinically heterogeneous disorder associated with lifelong morbidity and early mortality. Several genetic variants associated with schizophrenia have been identified, but the majority of the heritability remains unknown. In this study, we report on a case-control sample of Ashkenazi Jews (AJ), a founder population that may provide additional insights into genetic etiology of schizophrenia. We performed a genome-wide association analysis (GWAS) of 592 cases and 505 controls of AJ ancestry ascertained in the US. Subsequently, we performed a meta-analysis with an Israeli AJ sample of 913 cases and 1640 controls, followed by a meta-analysis and polygenic risk scoring using summary results from Psychiatric GWAS Consortium 2 schizophrenia study. The U.S. AJ sample show
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Multi-trait analysis for genome-wide association study of five psychiatric disorders - Unknown journal (n.d.) · Unknown authors · PubMed 32606422
ABSTRACT: We conducted a cross-trait meta-analysis of genome-wide association study on schizophrenia (SCZ) (n = 65,967), bipolar disorder (BD) (n = 41,653), autism spectrum disorder (ASD) (n = 46,350), attention deficit hyperactivity disorder (ADHD) (n = 55,374), and depression (DEP) (n = 688,809). After the meta-analysis, the number of genomic loci increased from 14 to 19 in ADHD, from 3 to 10 in ASD, from 45 to 57 in DEP, from 8 to 54 in BD, and from 64 to 87 in SCZ. We observed significant enrichment of overlapping genes among different disorders and identified a panel of cross-disorder genes. A total of seven genes were found being commonly associated with four out of five psychiatric conditions, namely GABBR1, GLT8D1, HIST1H1B, HIST1H2BN, HIST1H4L, KCNB1, and DCC.
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Mapping genomic loci implicates genes and synaptic biology in schizophrenia - Unknown journal (n.d.) · Unknown authors · PubMed 35396580
ABSTRACT: SUMMARY Schizophrenia has a heritability of 60-80%, much of which is attributable to common risk alleles. Here, in a 2-stage genome-wide association study of up to 76,755 people with schizophrenia and 243,649 controls, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes expressed in CNS neurons, excitatory and inhibitory, but not other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) as likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or UTR variation. We also implicate fundamental processes related to neuronal function, including synaptic organisation, differentiation, and transmission. Fine-mapped
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