Table 2

Methylation studies in monozygotic (MZ) twins discordant for personality and disease

Study

Condition

Method

Tissue

MZ pairs, n

Results


Weksberg et al. [83]

Beckwith-Wiedemann syndrome

Southern blotting with DMR probes (H19, KvDMR1, SNRP)

Lymphocytes and fibroblasts

10

Loss of methylation at KvDMR1 in all probands


Petronis et al. [91]

Schizophrenia

Bis-seq (DRD2)

Lymphocytes

1

Discordance confirmed


Mill et al. [92]

Attention deficit hyperactivity disorder

Bis-seq (COMT)

Buccal epithelial cells

12

0.1 to 52.3% discordance


Oates et al. [93]

Caudal duplication

Bis-seq (AXIN1)

PBMC

1

Discordance confirmed


Kuratomi et al. [95]

Bipolar disorder

MS-RDA

Lymphoblastoid cell lines

1

4 DMRs, 1 candidate gene


Kaminsky et al. [94]

Risk-taking behavior

MEDIP-chip

PBMC

1

38 DMRs, 1 candidate gene


Mastroeni et al. [32]

Alzheimer disease

Immunohistochemistry

Temporal neocortex

1

Discordance confirmed


Javierre et al. [96]

Systemic lupus erythematosus

MEDIP-chip

White blood cells

5

49 DMRs, 8 candidate genes


Wong et al. [87]

ADHD, depression, antisocial behavior

Quantitative high-throughput mass spectrometry (DRD4, SERT, MAOA)

Buccal epithelial cells

46

Discordance confirmed


Baranzini et al. [72]

Multiple sclerosis

RRBS

CD4+ lymphocytes

3

2-178 DMRs, no candidate


Hu et al. [98]

Autism

MEDIP-chip

Lymphoblastoid cell lines

3

73 DMRs, 2 candidate genes


Tierling et al. [118]

Beckwith-Wiedemann syndrome

Bis-seq (11 DMR)

Peripheral blood cells, buccal epithelial cells, skin fibroblasts, saliva

1

Hypomethylation at KvDMR1


Harder et al. [119]

Optic glioma

Bis-seq (NF1)

Leukocytes

8

Discordance confirmed


Souren et al. [120]

BMI

Bis-seq

Saliva

8

Small discordance identified, not correlated with BMI discordance


Rakyan et al. [90]

Type 1 diabetes

Illumina Array

CD14+ cells

15 (+9 healthy control)

132 methylation variable positions


Dempster et al. [99]

Schizophrenia/Bipolar disorder

Illumina Array

Whole blood

22

Disease-associated DMRs, including ST6GALNAC1 as the top candidate


Galetzka et al. [82]

Childhood leukemia/secondary thyroid carcinoma

Bis-seq (6 tumor suppressors)

Skin fibroblasts

1

Increased BRCA1 methylation


Gervin et al. [100]

Psoriasis

Illumina Array

CD4+ and CD8+ cells

27

No significant methylation difference. Significant correlation between some DMRs and psoriasis-associated gene expression differences


Abbreviations: Bis-seq, bisulfite sequencing; BMI, body mass index; DMR, differentially methylated region; MS-RDA, Methylation-sensitive representational difference analysis; PBMC, peripheral blood mononuclear cell; RRBS, reduced representation bisulfite sequencing; MeDIP-chip, Methylated DNA immunoprecipitation - chip

Czyz et al. BMC Medicine 2012 10:93   doi:10.1186/1741-7015-10-93

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