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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

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