SLC30A8 and type 2 diabetes

07 Nov 2011


The rs13266634 variant of the SLC30A8 gene, encoding zinc transporter-8, is linked to increased susceptibility to type 2 diabetes (T2D) in some human populations, but whether this is the only causal variant is unknown. In this study, the authors demonstrate that human SLC30A8 gene is expressed in pancreatic β- and α cells and describe a conserved promoter region located between −6154 and −1 relative to the translation start site that is active in stable but not transient transfections, as well as a conserved region in intron 2 containing an islet β-cell specific enhancer. They also investigated a single nucleotide polymorphism (SNP), rs62510556, and found that it modulates enhancer activity but is not a causal variant of SLC30A8 contributing to T2D in Europeans. Their results provide a framework for future studies investigating SLC30A8 SNPs that contribute to an increased risk of T2D. Pound et al. (2011) Journal of Molecular Endocrinology 47 251–259.

Read the full article at: DOI: 10.1530/JME-11-0055.


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