Table 1.

mtDNA variations implicated in increased or decreased risk of T2DM

mtDNA Alteration	Population	Variant Nature	Summary	Ref. No.
A3243G	Family	Heteroplasmic	Variant associated with familial DM and deafness	187
4399–14821 Deletion	Family	Heteroplasmic	Deletion associated with maternal inheritance of  DM and deafness	14
A3243G	Japanese	Heteroplasmic	Variant associated with familial DM	77
C1310T, G1438A, A12026G	Japanese	Homoplasmic	Variants associated with T2DM	179
A3243G	Chinese	Heteroplasmic	Variant associated with T2DM	210
T14577C	Family	Heteroplasmic	Variant associated with T2DM	178
A5178C	Japanese	N/A	Variant associated with maternally-inherited T2DM	195
T16189C	UK Caucasians	Mostly Homoplasmic	Variant associated with T2DM	139
G3316A, T3394C	Chinese	N/A	Variants associated with T2DM	207
C8684T	Japanese	N/A	Variant associated with T2DM	67
T3394C, A14693G, T16189C	Chinese	A14693G Homoplasmic	Variants associated with T2DM	176
T4216C, A4917G	Caucasian-Brazilian	Homoplasmic	Variants associated with T2DM	44
G5231A, A12358G, G12372A	Asian	N/A	Variants associated with resistance to T2DM	60
T16189C	Taiwanese	N/A	Variant associated with T2DM	101
T16189C	Asian	N/A	Variant associated with T2DM	130
T3394C, G4491A, T16189C, T16519C; C5178A, A10398G	Chinese Han	N/A	Variants T3394C, G4491A, T16189C, and T16519C  are positively correlated with T2DM; variants C5178A,  A10398G negatively correlated with T2DM	96
16189–16193 Polycytosine Variant	Europid	N/A	Variant associated with T2DM	205

DM, diabetes mellitus; N/A, not available; T2DM, type 2 diabetes mellitus. The mtDNA base pair changes are indicated, followed by the population being studied, the nature of the mtDNA base pair variation, and a summary of the findings.