Table 1.
Hypomethylated repetitive elements in human diseases
| 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] | |||
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