The role of SLC16A11 variations in diabetes mellitus

Purpose of review The aim of this study was to summarize the existing evidence that proves the association between an ethnic-specific SLC16A11 risk haplotype and type 2 diabetes found in the Latin American population. Recent findings The association has been replicated in consortia studies, especially in early-onset type 2 diabetes. No association has been found with gestational diabetes. Mild obesity-related diabetes is the most common T2D subphenotype found in patients with the risk haplotype. The SLC16A11 risk haplotype is associated with decreased insulin action, higher acute insulin secretory response to an intravenous glucose bolus and higher serum alanine aminotransferase levels. Summary The study of underrepresented populations in large genomic databases is a valuable resource to gain new knowledge about the pathophysiology of complex traits, especially if these groups have suffered repeated selection process caused by famine, migrations and war. This is the case of diabetes, obesity and lipid disorders in Latin American countries. Here, we summarize the existing evidence of a proof-of concept finding: the association between the SLC16A11 ethnic-specific risk haplotype and T2D.