Table 1.
Single nucleotide polymorphism (SNP) impacting CTCF functionality and disease susceptibility.
| SNP | Locus | Functional impact | Disease | References |
|---|---|---|---|---|
| rs2535629 | ITIH3 (3p21.1) | Disrupts CTCF binding and regulates the expression of the SFMBT1 | Schizophrenia | Li et al (2022) |
| rs796364; rs281759 | 2q33.1 | Disrupts CTCF, RAD21 and FOXP2 binding leading to upregulation of TYW5 (schizophrenia associated factor in brain) | Schizophrenia | Li et al (2022) |
| rs1990620 | TMEM106B (7p21) | Increase in CTCF binding facilitates long range chromatin interactions perhaps leading to the upregulation of TMEM106B | Frontotemporal lobar degeneration | Gallagher et al (2017) |
| rs3825427 | UBAC2 gene (13q32.3) | Increase in UBAC2 expression by recruiting CTCF at the promoter | Noise induced hearing loss | Wan et al (2022) |
| rs34481144 | IFTIM3 (11p15.5) | Recruits CTCF to the promoter and downregulates the expression of IFTIM3 | Influenza disease | Allen et al (2017) |
| rs9820407 | CTNNB1 (3p22.1) | Increase in CTNNB1 expression possibly by CTCF mediated long range chromatin interaction | Osteoporosis | Wang et al (2021) |