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

doi:10.1096/fj.202301700RR

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Article

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

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 30 Apr 2024

Hu Ming, Kim Innah, Morán Ignasi, Peng Weicong, Sun Orien, Bonnefond Amélie, Khamis Amna, Bonàs-Guarch Sílvia, Froguel Philippe, Rutter Guy A

Abstract excerpt

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 the sole driver of T2D risk at this locus, recent studies have provided evidence for lowered expression of SLC30A8...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Survival

Share to Diabetes Mellitus, Type 2

Share to Enhancer Elements, Genetic

Share to Genetic Variation

Share to Insulin

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Source

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Identifiers

PMID: 38661000
DOI: 10.1096/fj.202301700RR
PMCID: PMC11108099

Genes

SLC30A8
MED30
RAD21
UTP23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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