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Table 1 List of T2DM-associated genes and their methylation status

From: The role of DNA methylation in the pathogenesis of type 2 diabetes mellitus

Gene Species Organ/tissue Sample size Findings Reference
Ins Human Pancreatic islets Non-diabetic = 48, T2DM = 9 Hypermethylation [18]
Rat INS 832/13 β cell line  
Rat INS-1 β cell line   Hypermethylation [12]
Rat Pancreatic islets from Zucker diabetic fatty rats 10 rats
Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypermethylation [86]
PDX-1 Human Pancreatic islets Non- diabetic = 55, T2DM = 9 Hypermethylation [24]
Rat INS 832/13 β cell line  
Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypermethylation [86]
PPARGC1A Human Pancreatic islets Non-diabetic = 48, T2DM = 12 Hypermethylation [30]
FOSL2 Human Blood NGT = 50, T2DM = 50 Hypermethylation [31]
PTPN1 Human Blood Non-diabetic = 97, T2DM = 97 Hypermethylation [33]
SLC30A8 Human Blood NGT = 27, T2DM = 161 Hypermethylation [40]
IGF-1 Human Blood NGT = 242, T2DM = 164 Hypermethylation [42]
IGFBP-1 Human Blood NGT = 242, T2DM = 164 Hypermethylation [44]
IGFBP-7 Human Blood NGT = 100, T2DM =240 Hypermethylation [46]
GCK Human Blood Non-diabetic = 47, T2DM = 47 Hypermethylation [52]
MCP-1 Human Blood Non-diabetic = 15, T2DM = 32 Hypomethylation [55]
TP53 Human Blood Non-diabetic = 12, T2DM = 27 Hypermethylation [56]
BRCA1 Human Blood Non-diabetic = 12, T2DM = 27 Hypermethylation [56]
SCARA3 Human Blood Non-diabetic = 12, T2DM = 27 Hypermethylation [56]
PRDX2 Human Blood Non-diabetic = 12, T2DM = 27 Hypermethylation [56]
PRKCZ Human Blood Non-diabetic = 120, T2DM = 152 Hypermethylation [58]
GIPR Human Blood Non-diabetic = 93, T2DM = 93 Hypomethylation [60]
PTPRD Human Blood Non-diabetic = 98, T2DM = 94 Hypermethylation [70]
Mouse Liver tissue from KK and KK-Cg-Ay/J mice  
PDK4 Human Blood Normal = 11, T2DM = 25, MetS = 9 Hypomethylation (in T2DM+MetS groups vs control) [73]
Human Skeletal muscle NG = 79, T2DM = 33 Hypomethylation [74]
PPARG Human Blood Normal = 11, T2DM = 25, MetS = 9 Hypermethylation [73]
ABCG1 Human Blood 19 monozygotic twins discordant for T2DM Hypermethylation [77]
Human Adipose tissue 14 monozygotic twins discordant for T2DM
Human Blood Non-diabetic = 98, T2DM = 100 Hypermethylation [100]
PHOSPHO1 Human Skeletal muscle 17 monozygotic twins discordant for T2DM Hypomethylation [77]
TXNIP Human Blood 19 monozygotic twins discordant for T2DM Hypomethylation [77]
Human Skeletal muscle 17 monozygotic twins discordant for T2DM
Human Pancreatic islets Non-diabetic = 34, T2DM = 15
Human Blood Discovery:
BASICMAR_1 cohort: non-DM = 204, DM = 151
Replication:
BASICMAR_2 cohort: non-DM = 108, DM = 59
REGICOR cohort: non-DM = 582, DM = 63
Hypomethylation [82]
Human Blood Non-diabetic = 98, T2DM = 100 Hypomethylation [100]
SREBF1 Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypermethylation [77]
Human Blood Non-diabetic = 98, T2DM = 100 Hypermethylation [100]
EXOC3L2 Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypermethylation [86]
CDKN1A Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypomethylation [86]
PDE7B Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypomethylation [86]
SEPT9 Human Pancreatic islets Non-diabetic = 34, T2DM = 15 Hypomethylation [86]
SLC2A2 Human Pancreatic islets Non-diabetic = 8, T2DM = 6 Hypermethylation [95]
DVL1 Human Blood 966 individuals from the general population Hypomethylation [97]
HIST1H4D Human Blood 966 individuals from the general population Hypomethylation [97]
LOXL2 Human Blood Non-diabetic = 98, T2DM = 100 Hypomethylation [100]
SLC1A5 Human Blood Non-diabetic = 98, T2DM = 100 Hypomethylation [100]
FTO Human Blood Pool-based cross-sectional study:
Non-diabetic = 459, T2DM = 710
Individual-based cross-sectional study:
Non-diabetic = 233, T2DM = 198
Longitudinal study: 515 individuals
Hypomethylation [103]
MSI2 Human Blood Discovery group:
Non-diabetic = 13, hyperglycaemic = 8, T2DM = 5
Replication group:
Non-diabetic = 220, T2DM = 220
Hypomethylation [109]
Human Pancreatic islets Non-diabetic = 16, T2DM = 2
NR4A1 Human Blood Non-diabetic = 98, T2DM = 94 Hypermethylation [110]
Mouse Pancreatic islets and blood from KK and KK.Cg-Ay/J mice