Genetics of Type 2 Diabetes: beyond single nucleotide variant studies.

Type 2 Diabetes (T2D) is a complex disease that has increased in prevalence in the last years affecting over 530 million people around the world. T2D increases mortality and morbidity by different mechanisms. As a complex disease, it is caused by many genetic changes and, consequently, T2D genetics has been analyzed from different points of view and using different strategies. Most studies have focused on inherited Single Nucleotide Variants (SNVs) present in genomic DNA, while other types of genetic variants have received less attention. The aim of the present review is to examine the limitations of the studies conducted to date, and the importance of non-SNVs and non-germinal variants in the genetics of this disease. In this way, structural variants, mobile elements and tandem repeats have a crucial role in T2D. In addition, variations in mitochondrial DNA and somatic variations have been shown to play an important role in metabolic alterations that may lead to the development of T2D.