ArticleTranslational psychiatry2019
Using phenome-wide association to investigate the function of a schizophrenia risk locus at SLC39A8.
Article in Translational psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records.Journal of intellectual disability research : JIDR · 2024Article
- Topic modeling identifies novel genetic loci associated with multimorbidities in UK Biobank.Cell genomics · 2023Article
- Iron homeostasis and post-hemorrhagic hydrocephalus: a review.Frontiers in neurology · 2023Review
- Review
- Single-gene knockout-coupled omics analysis identifies C9orf85 and CXorf38 as two uncharacterized human proteins associated with ZIP8 malfunction.Frontiers in molecular biosciences · 2022Article
- Divalent Metal Uptake and the Role of ZIP8 in Host Defense Against Pathogens.Frontiers in cell and developmental biology · 2022Review
- The Impact of ZIP8 Disease-Associated Variants G38R, C113S, G204C, and S335T on Selenium and Cadmium Accumulations: The First Characterization.International journal of molecular sciences · 2021Article
- Schizophrenia-associated SLC39A8 polymorphism is a loss-of-function allele altering glutamate receptor and innate immune signaling.Translational psychiatry · 2021Article
- Pleiotropy and Cross-Disorder Genetics Among Psychiatric Disorders.Biological psychiatry · 2021Review
- N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.Journal of inherited metabolic disease · 2020Article
- SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside.Human genomics · 2019Review
- Distribution of agitation and related symptoms among hospitalized patients using a scalable natural language processing method.General hospital psychiatryArticle
- Association between DSM-5 and ICD-11 personality dimensional traits in a general medical cohort and readmission and mortality.General hospital psychiatryArticle
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While nearly all common genomic variants associated with schizophrenia have no known function, one corresponds to a missense variant associated with change in efficiency of a metal ion transporter, ZIP8, coded by SLC39A8. This variant has been linked to a range of phenotypes and is believed to be under recent selection pressure, but its impact on health is poorly understood. We sought to understand phenotypic implications of this variant in a large genomic biobank using an unbiased phenome-wide approach. Specifically, we generated 50 topics based on diagnostic codes using latent Dirichlet allocation, and examined them for association with the risk variant. Then, any significant topics were further characterized by examining association with individual diagnostic codes contributing to the topic. Among 50 topics, 1 was associated at an experiment-wide significance threshold (beta = 0.003, uncorrected p = 0.00049), comprising predominantly brain-related codes, including intracranial hemorrhage, cerebrovascular disease, and delirium/dementia. These results suggest that a functional variant previously associated with schizophrenia risk also increases liability to cerebrovascular disease. They further illustrate the utility of a topic-based approach to phenome-wide association.
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