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Using phenome-wide association to investigate the function of a schizophrenia risk locus at SLC39A8.


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 t

SUBMITTER: McCoy TH 

PROVIDER: S-EPMC6351652 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature