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Two independent genome‑wide association studies (GWAS) have implicated SLC16A13 as a risk locus for type 2 diabetes mellitus. In one study published in Nature (2014) (PMID:24390345), a locus spanning the solute carrier genes SLC16A11 and SLC16A13 achieved genome‑wide significance in a cohort of 8,214 Latin Americans, with the risk haplotype driven by four amino acid substitutions in SLC16A11. Although that study emphasized SLC16A11 functionally, the genomic region also includes SLC16A13 and raised interest in its potential contribution to diabetes risk.
A second study, published in Human Molecular Genetics (2014) (PMID:23945395), independently identified SLC16A13 as one of three novel loci for type 2 diabetes in a large Japanese cohort. An intragenic single‑nucleotide polymorphism (SNP), rs312457, reached genome‑wide significance (P = 7.69 × 10^-13) in analyses comprising 30,392 cases and 34,814 controls. Although a specific coding variant in HGVS nomenclature was not detailed for SLC16A13, the robust statistical evidence across diverse populations supports its role as a risk factor.
The association signal for SLC16A13 confers a modest effect (odds ratio = 1.20), consistent with a common disease–common variant paradigm. The replication in distinct ethnic cohorts underlines the validity of the association, although the precise functional mechanism remains to be elucidated. As type 2 diabetes mellitus is a multifactorial disorder, the genetic effect of SLC16A13 is best understood within the context of complex trait architecture.
While the genetic evidence is strong, functional validation for SLC16A13 lags behind. Unlike its neighboring gene SLC16A11—which has been linked to altered lipid metabolism through in vitro expression studies—no direct experimental assessments (such as protein localization, enzymatic assays, or animal/cellular models) have yet been reported exclusively for SLC16A13. This gap highlights an important area for future research and functional follow‑up studies.
In summary, the combined GWAS data establish a robust statistical association between SLC16A13 and type 2 diabetes mellitus. Despite the current paucity of functional data, the consistency across large cohorts in multiple populations underscores the clinical relevance of this association and supports its utility in risk stratification.
Key take‑home sentence: SLC16A13 is a reproducible risk locus for type 2 diabetes mellitus, offering a promising target for improved risk prediction and personalized intervention pending further functional validation.
Gene–Disease AssociationStrongSupported by two independent GWAS studies achieving genome‑wide significance in large cohorts (PMID:24390345) and (PMID:23945395). Genetic EvidenceStrongA significant association signal (rs312457) was observed in a combined analysis of over 30,000 cases and 34,000 controls, providing robust statistical evidence. Functional EvidenceLimitedThere are no direct functional studies or experimental model systems reported for SLC16A13 at this time. |