ArticleScientific reports2020
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals.Nature medicine · 2023Pooled it
- Mapping topological abnormalities in cortical similarity networks to schizophrenia-associated gene expression.Dialogues in clinical neuroscience · 2026Article
- Schizophrenia: from mechanism to therapy.Science China. Life sciences · 2026Review
- Manganese: biology, physiology and role in disease.Cell discovery · 2026Review
- Metabolic Mechanisms in Electroconvulsive Therapy for Schizophrenia: Role, Potential and Future Directions.International journal of molecular sciences · 2026Review
- Review
- Allosteric modulation of the solute carrier transporter SLC39A8 potentiates manganese and cadmium uptake.The Journal of clinical investigation · 2025Article
- The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross-Sectional Studies of Schizophrenia and the General UK Population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- The shared genetic architecture between schizophrenia and common peripheral organ imaging phenotypes.Schizophrenia (Heidelberg, Germany) · 2025Article
- Local patterns of genetic sharing between neuropsychiatric and insulin resistance-related conditions.Translational psychiatry · 2025Article
- Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.Life science alliance · 2025Article
- SC-VAR: a computational tool for interpreting polygenic disease risks using single-cell epigenomic data.Briefings in bioinformatics · 2025Article
- Genomic network analysis characterizes genetic architecture and identifies trait-specific biology.medRxiv : the preprint server for health sciences · 2024Article
- Neuronal SLC39A8 deficiency impairs cerebellar development by altering manganese homeostasis.JCI insight · 2024Article
- The restricted N-glycome of neurons is programmed during differentiation.bioRxiv : the preprint server for biology · 2024Article
- Clinical glycoproteomics: methods and diseases.MedComm · 2024Review
- SLC39A8.p.(Ala391Thr) is associated with poorer cognitive ability: a cross-sectional study of schizophrenia and the general UK population.medRxiv : the preprint server for health sciences · 2024Article
- The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.Nature communications · 2024Article
- Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping.Nature medicine · 2024Article
- Patterns of item nonresponse behaviour to survey questionnaires are systematic and associated with genetic loci.Nature human behaviour · 2023Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
Abstract
A common missense variant in SLC39A8 is convincingly associated with schizophrenia and several additional phenotypes. Homozygous loss-of-function mutations in SLC39A8 result in undetectable serum manganese (Mn) and a Congenital Disorder of Glycosylation (CDG) due to the exquisite sensitivity of glycosyltransferases to Mn concentration. Here, we identified several Mn-related changes in human carriers of the common SLC39A8 missense allele. Analysis of structural brain MRI scans showed a dose-dependent change in the ratio of T2w to T1w signal in several regions. Comprehensive trace element analysis confirmed a specific reduction of only serum Mn, and plasma protein N-glycome profiling revealed reduced complexity and branching. N-glycome profiling from two individuals with SLC39A8-CDG showed similar but more severe alterations in branching that improved with Mn supplementation, suggesting that the common variant exists on a spectrum of hypofunction with potential for reversibility. Characterizing the functional impact of this variant will enhance our understanding of schizophrenia pathogenesis and identify novel therapeutic targets and biomarkers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.