Genome-wide association studies have previously identified variants in SLC30A8, encoding the zinc transporter ZnT8, associated with diabetes risk. A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabetes.
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Pearson, E. Zinc transport and diabetes risk. Nat Genet 46, 323–324 (2014). https://doi.org/10.1038/ng.2934
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DOI: https://doi.org/10.1038/ng.2934
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