Table 1:
Association of TMEM106B with brain disorders
| Disease | TMEM106B SNPs/Mutations | Risk allele/ Major allele | Protective allele/ Minor allele | Phenotypes associated with SNPs/Mutations | References |
|---|---|---|---|---|---|
| FTLD-GRN | rs1990622 | T | C | Increased risk for FTLD-GRN (all risk alleles). | [14, 20, 21, 29, |
| rs1990621 | C | G | Altered chromatin structure (rs1990620). | 42, 43, 57, 76, 78, | |
| rs1990620 | A | G | Reduced brain size (rs1990620). | 79] | |
| rs1020004 | A | G | Decreased neuron proportion (rs1990621). | ||
| rs6966915 | C | T | Worse cognitive decline (rs1990622). | ||
| rs3173615 (T185S) | C | G | |||
| FTLD-C9ORF72 | rs1990622 | T | C | Major allele associated with higher risk. | [17, 22, 77] |
| rs3173615 | C | G | Minor allele associated with reduced risk. | ||
| ALS | rs1990622 | T | C | Worse cognitive decline in ALS patients (rs1990622) | [80] |
| AD | rs1990622 | T | C | Worse TDP-43 pathology (rs1990622). | [35, 46, 49, 64] |
| rs1990620 | A | G | Increased AD risk in APOE4 mutation carriers (rs1990622; rs1596014). | ||
| rs1595014 | T | A | Reduced inflammation in LOAD (rs1990620) | ||
| PD | rs1990622 | T | C | Worse cognitive decline (rs1990622). | [76] |
| CTE | rs3173615 | C | G | Less inflammation, ante-mortem dementia, and Tau pathology in CTE patients (rs3173615). | [5, 11] |
| HS-Aging | rs1990622 | T | C | Increased risk and more advanced TDP-43 pathology (rs1990622). | [52, 87] |
| LATE | rs1990622 | T | C | Increased risk (rs1990622) | [30, 51] |
| HLD | c.754G>A (D252N) | Hypomyelination in the brain. Delayed motor | [33, 70, 84] | ||
Abbreviations FTLD: Frontotemporal lobar degeneration; ALS: Amyotrophic lateral sclerosis; AD: Alzheimer’s disease; PD: Parkinson’s disease; CTE: Chronic traumatic encephalopathy; HS-aging: Hippocampal sclerosis of aging; LATE: Limbic-predominant age-related TDP-43 encephalopathy; HLD: Hypomyelinating leukodystrophy.