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Table 1 cfDNA methylation markers of specific tissue and organ injury

From: Unlocking the secrets: the power of methylation-based cfDNA detection of tissue damage in organ systems

Organ

Disease

Observations

Detection method

Sensitivity

Specificity

References

Liver

Acute graft-versus-host disease

PTK28

ddPCR

92.8%

91.0%

[104]

Liver

Hepatocellular carcinoma

cg02396797, cg030646442, cg21178851

Bisulfite DNA sequencing and HM450K

35%

95%

[27]

Liver

Acute hepatocyte death

ITIH4, IGF2R, VTN

HM450K and ddPCR

–

–

[105]

Colon

Acute graft-versus-host disease

SESN3

ddPCR

90.5%

98.9%

[104]

Kidney

Acute kidney injury

KLK1

Pyrosequencing

–

–

[106]

Kidney

kidney transplant

CALCA

Fluorescence-based real-time PCR

–

–

[107]

Kidney

Kidney transplant

Absolute concentration of kidney cfDNA

WGBS

–

–

[108]

Heart

Myocardial infarction

CORO6

MCTA-seq and ddPCR

46%

80%

[109]

Heart

Open-heart surgery damage

Cardiac cfDNA concentration

Two-step multiplexed PCR and NGS

–

–

[110]

Heart

Acute myocardial infarction

FAM101A

WGBS and MSP sequencing analysis and ddPCR

–

–

[111]

Lung

Lung cancer and lung nodules

cg19864007_cg22636429_cg15542994, cg26970841_cg03978375_cg24826867, cg04175417, cg21962423, cg23156742, cg06287318, cg21963643, cg07568344 and cg12545252

Targeted methylation sequencing

–

93.2%

[112]

Pancreas

Diabetes

Fbxl19, Mtg1, Leng8, Zc3h3, INS, INS antisense

HM450K and two-step multiplex PCR

–

70%

[113]

Pancreas

Diabetes

CHTOP/INS

HM450K and bisulfite DNA sequencing and ddPCR

–

100%

[114]

Brain

Oligodendrocyte

cg26765599, cg20637405, cg25396488

Bisulfite DNA sequencing and HM450K

20.7%

95%

[27]

Brain

Neuron

cg13131859, cg10030512, cg12560421, cg18519737

Bisulfite DNA sequencing and HM450K

17.2%

95%

[27]

Brain

Astrocyte

cg22031783, cg01623475, cg01623475

Bisulfite DNA sequencing and HM450K

13.8%

95%

[27]

Muscle

Amyotrophic lateral sclerosis

RHBDF2

Pyrosequencing and bisulfite cloning sequencing

–

–

[115]