Table 6. Summary of results described in this overview.
The table reports, from left to right: the affected gene and its trans regulator (if any); the UTR region where the studied genetic variant is localized; the associated disease; the reference where the mechanism reported has been described.
| Affected gene_trans regulator | UTR region | Associated disease | Reference |
|---|---|---|---|
| uORF | |||
| SPINK1 | 5′UTR | Hereditary pancreatitis | Calvo, 2009 |
| HR | 5′UTR | Marie Unna hereditary hypotrichosis | Wen, 2009 |
| HT3A | 5′UTR | Bipolar disorder | Niesler, 2001 |
| IRES | |||
| c-MYC_ITAFs and YB-1 | 5′UTR | Multiple myeloma | Cobbold, 2010 |
| connexin-32 | 5′UTR | Charcot-Marie-Tooth disease | Hudder, 2000 |
| RNA-binding protein | |||
| TPH2_unknown | 5′UTR | Behavioural traits and psychiatric disorders | Chen GL, 2008 |
| FMR1_TDP-43 | 5′UTR | Fragile X-associated tremor/ataxia syndrome | He, 2014 |
| 5′UTR deletion | |||
| ATP7B | 5′UTR | Wilson disease | Cullen 2003 |
| CCG repeat | |||
| FMR1 | 5′UTR | Fragile X syndrome | Yifan Zhou, 2016 |
| Kozak sequence | |||
| β-globin | 5′UTR | β-thalassaemia | Angioletti, 2004 |
| 3′UTR length and polyadenylation signal | |||
| HTT | 3′UTR | Huntington disease | Romo, 2017 |
| FOXP3 | 3′UTR | Polyendocrinopathy, enteropathy, X-linked | Bennet 2001 |
| α and β globin | 3′UTR | Thalassemia | Orkin 1985; Rund 1992; Higgs 1983 |
| TNFSF13B | 3′UTR | Multiple sclerosis, Systemic lupus erythematous | Steri, 2017 |
| MicroRNA | |||
| IZKF3_miR 326 | 3′UTR | Autoimmune diseases | Richardson, 2011 |
| PVRL_miR 320 | 3′UTR | Alzheimer Disease | Ghanbari, 2016 |
| KRAS_miR let-7a | 3′UTR | Metastasis in osteosarcoma | Zhang, 2017 |
| APOA5_miR-485-5p | 3′UTR | Metabolic syndrome | Caussy et al, 2014 |
| TNFSF13B_miR 15a | 3′UTR | Multiple sclerosis | Steri, 2017 |
| RNA-binding protein | |||
| TNFα_HuR | 3′UTR | Host defence | Di Marco, 2001 |
| PPP1R3_unknown | 3′UTR | Type 2 diabetes | Xia, 1999 |
| TS_AUF1 | 3′UTR | Rheumatoid arthritis and several malignancies | Pullmann, 2006 |
| Alternative translation initiation codon | |||
| PSCA | 5′UTR | Duodenal ulcer | Tanikawa, 2012 |
| Unknown mechanism | |||
| APOA5 | 5′UTR | Metabolic syndrome | Zhou, 2013 |
| ETS1 | 3′UTR | Systemic lupus erythematosus | Yang, 2010 |
| F5 | 3′UTR | Venous thromboembolism | Tang et al, 2013 |
| IL21R | 5′UTR | Primary biliary cholangitis | Qiu, 2017 |
| KITLG | 3′UTR | Testicular germ cell tumor | Ruark, 2013 |