| Factor / locus | Risk role in PSP | Key quantitative finding | Study design / cohort | Sample size | Year | DOI / URL | Citation |
|---|---|---|---|---:|---:|---|---|
| MAPT 17q21.31 H1/H2 haplotype region | Strongest common genetic risk locus | H1 haplotype associated with PSP risk; estimated OR = 5.6 | Whole-genome sequencing (WGS) case-control study in European ancestry PSP | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| MAPT H1 haplotype | Candidate mechanistic driver via altered tau isoform expression | 4R tau mRNA significantly associated with H1 haplotype in temporal cortex; total tau and 4R tau transcripts increased in PSP cerebellum | Bulk RNA-seq of post-mortem brain tissue with haplotype-dependent expression/splicing analyses | 84 PSP; 77 controls | 2024 | https://doi.org/10.1186/s40478-024-01839-3 | (pqac-00000022) |
| MAPT | Confirmed common susceptibility locus | Reconfirmed among common SNV/indel loci in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| MOBP | Confirmed common susceptibility locus; implicates oligodendrocytes/myelin biology | Confirmed in WGS; prior association reproduced | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| STX6 | Confirmed common susceptibility locus | Confirmed in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| SLCO1A2 | Confirmed common susceptibility locus | Confirmed in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| DUSP10 | Confirmed common susceptibility locus | Confirmed in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| SP1 | Confirmed common susceptibility locus | Confirmed in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| APOE locus | Novel common susceptibility signal | Novel signal identified in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| APOE ε2 allele | Risk allele in PSP | In contrast to Alzheimer disease, APOE ε2 observed as the risk allele in PSP | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| APOE ε4 allele | Potential modifier of phenotype, not core GWAS risk in cited cohort | Earlier parkinsonism onset (p = 0.038), earlier oculomotor dysfunction trend (p = 0.052), more altered cognitive profile | Cross-sectional clinical phenotype study with APOE genotyping | 112 PSP | 2024 | https://doi.org/10.14802/jmd.23178 | (pqac-00000014) |
| FCHO1/MAP1S | Novel common susceptibility signal | Newly uncovered in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| KIF13A | Novel common susceptibility signal | Newly uncovered in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| TRIM24 | Novel common susceptibility signal | Newly uncovered in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| TNXB | Novel common susceptibility signal | Newly uncovered in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| ELOVL1 | Novel common susceptibility signal | Newly uncovered in WGS | WGS case-control | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| ZNF592 | Rare-variant association | Significant association in rare SNV/indel analysis | WGS rare-variant analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| Structural variants in 17q21.31 | Structural genetic risk architecture at major PSP locus | Seven common SVs associated with PSP in H1/H2 region and other loci | WGS SV association analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| IGH | SV-associated locus | Common SV association reported | WGS SV analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| PCMT1 | SV-associated locus | Common SV association reported | WGS SV analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| CYP2A13 | SV-associated locus | Common SV association reported | WGS SV analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| SMCP | SV-associated locus | Common SV association reported | WGS SV analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000020) |
| Rare deletions/duplications in H1/H2 region | Additional structural burden at major locus | Burden of rare deletions/duplications in 17q21.31: P = 6.73 × 10^-3 | WGS SV burden analysis | 1,718 cases; 2,944 controls | 2024 | https://doi.org/10.1186/s13024-024-00747-3 | (pqac-00000013, pqac-00000020) |
| EIF2AK3, LRRK2, RUNX2 | Previously reported PSP risk loci referenced in recent mechanistic/genetic studies | Not primary new WGS findings in cited paper, but repeatedly cited as established PSP-associated loci | Background from recent single-cell / review literature | Not applicable | 2024 | https://doi.org/10.1007/s00401-024-02823-w ; https://doi.org/10.1007/s40120-024-00614-9 | (pqac-00000024, pqac-00000012) |


*Table: This table summarizes the main genetic risk factors and loci implicated in progressive supranuclear palsy, emphasizing the 2024 WGS study and related transcriptomic evidence. It is useful for quickly mapping confirmed loci, novel signals, structural variation findings, and effect estimates such as the MAPT H1 haplotype odds ratio.*