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Table 1 Hypomethylated repetitive elements in human diseases

From: Losing DNA methylation at repetitive elements and breaking bad

  Disease Type of RE Cell type References
Hereditary diseases AGS LINEs, LTRs, SINEs and DNA satellites Fibroblasts Lim et al. [112]
ICF Sat1 and 2 Fibroblasts, lymphoblasts Hassan et al. [57]
Leukocytes Jeanpierre et al. [54]
Lymphocytes Ji et al. [56], Miniou et al. [55], Heyn et al. [58], Simo-Riudalbas et al. [72]
Sat-α Fibroblasts, leukocytes Miniou et al. [63]
Blood cells Velasco et al. [62]
Sub-telomeric repeats Lymphoblastoid cell lines Sagie et al. [67]
D4Z4 and NBL2 Kondo et al. [71]
FSHD D4Z4 and NBL2 Several tissues including blood van Overveld et al. [84], de Greef et al. [81], Lemmers et al. [85], Gaillard et al. [87]
HSAN1E Sat2, sat-α, LINEs and Alus Blood cells Klein et al. [99], Sun et al. [101]
SLE HERV-E Blood cells Wu et al. [107], Wang et al. [108]
Cancer Breast cancer Sat2, sat-α, LINEs and Alus Tumoural cells Narayan et al. [183]
Bladder cancer Sat2, LINE-1 and Alus, sat-α, NBL2 Tumoural cells Si et al. [172]
CLL Alus, LINEs, LTRs, sat Tumoural cells Subhash et al. [173]
Colon cancer NBL2 Tumoural cells Samuelsson et al. [187], Dumbović et al. [188]
LINE-1 Blood cells Samuelsson et al. [187], Suter et al. [175]
Extra-hepatic cholangiocarcinoma LINE-1, sat2 Blood cells Kim et al. [171]
Gastrointestinal stromal tumour AluYb8, sat-α, NBL2 Tumoural cells Igarashi et al. [174]
LINE-1 Igarashi et al. [174], Shigaki et al. [179]
Hepatocellular carcinoma Alus and LINEs Tumoural cells Zheng et al. [170]
Sat2 Wong et al. [186]
NBL2 Nagai et al. [185]
Neuroblastoma NBL2 Tumoural cells Thoraval et al. [184]
Lung carcinoma Alu Tumoural cells Ikeda et al. [176]
Ovarian carcinoma LINE-1 Tumoural cells Notaro et al. [177], Zhang et al. [178]
sat2 and sat-α Tumoural cells Qu et al. [191], Widschwendter et al. [190]
Thyroid cancer Alus Tumoural cells Hesselink et al. [181]
Wilms tumours Sat2 and sat-α Tumoural cells Qu et al. [189]
Ageing Ageing Sat3 Fibroblasts Enukashvily et al. [192]
Alus Blood cells Bollati et al. [216]
Jintaridth and Mutirangura [217]
Alus and LINE-1 DNA-cell free Erichsen et al. [219]
Brain diseases Neurodevelopmental disorders
ASD LINE-1 s Lymphocytes Tangsuwansri et al. [135]
Alus Saeliw et al. [136]
AT LINE-1, sat2, sat-α Lymphocytes Almeida et al. [129]
Neurodegenerative disorders
AD Alus, sat-α Leukocytes Bollati et al. [142]
Neuropsychiatric disorders
BP LINE-1 S2 and S3 Blood cells Li et al. [147]
AluYA3 Li et al. [148]
ELS-related disorders LINE-1 Leukocytes Misiak et al. [126]
SINEs Nätt et al. [127]
MDD LINE-1 Blood cells Liu et al. [157]
AluJb Schneider et al. [158]
PTSD Alus and LINE-1 Serum Rusiecki et al. [163]
SZ LINE-1 Blood cells Misiak et al. [126]
LINE-1 S1 and S3 Li et al. [147]
AluYA3 Li et al. [148]
  1. AGS Aicardi–Goutières syndrome, AD Alzheimer's disease, ASD autism spectrum disorders, AT ataxia teleangectasia, BP bipolar disorder, CLL chronic lymphocytic leukaemia, ELS early life stress, ICF immunodeficiency with centromeric instability and facial anomalies syndrome, FSHD facioscapulohumeral muscular dystrophy, MDD major depressive disorder, PTSD post-traumatic stress disorder, SZ schizophrenia