Genetic Variants of the Human Thiamine Transporter (<i>SLC19A3</i>, THTR2)-Potential Relevance in Metabolic Diseases.

ABSTRACT: Thiamine, crucial for energy metabolism, is associated with various human diseases when deficient. We studied how variations in the SLC19A3 gene, encoding THTR2, a thiamine transporter, may influence type 2 diabetes (T2DM) and gout (arthritis urica, AU). We characterized the SLC19A3 gene variants using bioinformatics and analyzed DNA samples from controls, T2DM, and gout patients to explore associations with physical/laboratory parameters. In human cells, we used a luciferase reporter assay to assess how these variants affect gene expression. We examined four large haplotypes (H1-4) in this gene, identified lead SNPs for the minor variants (MV), and explored potential transcription factor binding sites. We found that in T2DM patients, H3-MV correlated significantly with impai

SUBMITTER: Szabo E 

PROVIDER: S-EPMC11988879 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature