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Identification of C2CD4A as a human diabetes susceptibility gene with a role in β cell insulin secretion

16 Sept 2019

Abstract excerpt

Fine mapping and validation of genes causing β cell failure from susceptibility loci identified in type 2 diabetes genome-wide association studies (GWAS) poses a significant challenge. The VPS13C-C2CD4A-C2CD4B locus on chromosome 15 confers diabetes susceptibility in every ethnic group studied to date. However, the causative gene is unknown. FoxO1 is involved in the pathogenesis of β cell dysfunction, but its...

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PMID: 31527256
DOI: 10.1073/pnas.1904311116

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