This review examines the genetics of Type 2 Diabetes (T2D) beyond traditional Single Nucleotide Variant (SNV) studies, evaluating the roles of structural variants, mobile elements, tandem repeats, mitochondrial DNA variations, and somatic mutations in T2D risk and development.
Non-SNV and non-germline genetic variants — including structural variants, mobile elements, tandem repeats, mitochondrial DNA changes, and somatic variants — play important roles in metabolic alterations that contribute to T2D, which affects over 530 million people worldwide.
As a narrative review, it does not provide new primary data or quantitative pooled estimates; conclusions rely on the quality and scope of the underlying studies reviewed, which may themselves be limited in design or population diversity.
Clinicians should be aware that T2D genetic risk is not fully captured by standard SNV-focused testing; broader genomic factors, including mitochondrial and somatic variants, may contribute to disease in some patients and could become relevant as genetic screening tools evolve.
