The genetics of type 2 diabetes: from crossing the desert to profusion of susceptibility genes

Human genomics is a fast moving field that showed important breakthroughs in the last decade, which radically changed our vision of the genetic basis of complex diseases and traits such as type 2 diabetes. We have identified over 60 susceptibility loci so far, all confirmed and replicated in impressively large cohorts. Genetic variants are usually non coding variants that map in gene desert regions and their link with glucose homeostasis is still elusive. Investigation has greatly benefited from the genomic association approach, especially when the gene-by-adiposity interaction was taken into account. Efforts in the field of the genetics of type 2 diabetes are moving in two challenging directions: the study of the role of rare and low frequency variants and the functional validation of the genes around susceptibility loci.