Loss-of-function variant of SLC30A8 rs13266634 (C > T) protects against type 2 diabetes by stabilizing ZnT8: Insights from epidemiological and computational analyses.

ABSTRACT: The loss-of-function variant rs13266634 (C > T) in SLC30A8 has been linked to type-2-diabetes (T2D) susceptibility with conflicting findings. We investigated its role among T2D patients of Bangladesh. The rs13266634 (C > T) variant results in an arginine-to-tryptophan (p.R325W) substitution of SLC30A8-encoded zinc transporter protein, ZnT8. As zinc is crucial for insulin-crystallization for storage, we analyzed its wild-type (WZnT8) and variant (MZnT8) protein conformations via molecular-dynamics (MD) simulations. For the epidemiological analysis, a case-control study was conducted with 90 T2D patients from a diabetic-patient-cohort and 90 gender-matched healthy-controls. Genomic DNA was isolated from blood samples and genotyped by Sanger sequencing. MD simulations, spanning over 100 ns, w

SUBMITTER: Barman N 

PROVIDER: S-EPMC12861954 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature