Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function

Variants at the SLC30A8 locus are associated with type 2 diabetes (T2D) risk. The lead variant, rs13266634, encodes an amino acid change, Arg325Trp (R325W), at the C-terminus of the secretory granule-enriched zinc transporter, ZnT8. Although this protein-coding variant was previously thought to be t...

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Detalles Bibliográficos
Autores principales: Hu, Ming, Kim, Innah, Morán, Ignasi, Peng, Weicong, Sun, Orien, Bonnefond, Amélie, Khamis, Amna, Bonas-Guarch, Silvia, Froguel, Philippe, Rutter, Guy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369998/
https://www.ncbi.nlm.nih.gov/pubmed/37502937
http://dx.doi.org/10.1101/2023.07.13.548906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369998/
https://www.ncbi.nlm.nih.gov/pubmed/37502937
http://dx.doi.org/10.1101/2023.07.13.548906

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