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Table 1 Allele-specific methylation of amplicons among individuals and correlation with genotype

From: Non-imprinted allele-specific DNA methylation on human autosomes

 

Genes and amplicons

 

C21orf81

HSF2BP

RIPK4

CBR1

 

23_1

23_2

262

232

176_1

176_2

Length (bp)

370

426

400

241

302

476

CpG sites

31

26

42

25

31

44

SNP (strand) dbsnp build 129

A/C (-) rs2297246

A/C (+) rs56270809

A/G (-) rs2838343

A/G (+) rs55860816

del/no del (+) rs41563015

C/G (+) rs25678

Individuals studied

38

19

33

36

21

21

Individuals with SNP

17

8

20

11

1

8

Individuals with SNP and ASM

8

7

19

3

1

1

Coupling of ASM and genotype

Always: C hyper- methylated

Always: C hyper- methylated

18 cases: G hyper- methylated in right part of amplicon

Always: G hyper- methylated

Always: del hyper- methylated

Always: C hyper- methylated

   

1 case: A hyper- methylated in left part of amplicon

   

Average allelic methylation difference in ASM cases

53%

60%

54% (G hyper- methylated), 64% (A hyper- methylated)

39%

50%

60%

Individuals with SNP but without ASM

9

1

1

8

0

7

Individuals without SNP

21

11

13

25

20

13

  1. ASM, allele-specific methylation; CpG, cytosine-guanine dinucleotide; SNP, single nucleotide polymorphism.