Cerebral atherosclerosis
diseaseOn this page
Summary
Cerebral atherosclerosis (MONDO:0006694) is a disease with 14 GWAS associations across 6 studies and 5 clinical trials. Top therapeutic interventions include evolocumab. A subtype of atherosclerosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 14
- Clinical trials: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cerebral atherosclerosis |
| Mondo ID | MONDO:0006694 |
| EFO | EFO:1000860 |
| DOID | DOID:12720 |
| ICD-10-CM | I67.2 |
| ICD-11 | 1710003414 |
| NCIT | C34459 |
| SNOMED CT | 55382008 |
| UMLS | C0007775 |
| MedGen | 40189 |
| MedDRA | 1008095 |
| Is cancer (heuristic) | no |
Also known as: cerebral atherosclerosis
Data availability: 14 GWAS associations (6 studies).
Disease family
This is a subtype of atherosclerosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › arteriosclerosis disorder › atherosclerosis › cerebral atherosclerosis
Related subtypes (5): aortic atherosclerosis, generalized atherosclerosis, coronary atherosclerosis, autoimmune atherosclerosis, atherosclerotic cardiovascular disease
Genetics & variants
GWAS landscape
14 GWAS associations across 6 studies. Top hits map to 6 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs116862240 | 6e-15 | MIR4303 - RNU4-41P | G | 2.12 |
| rs550610210 | 2e-14 | LINC01853 - MTCO1P44 | T | 3.09 |
| rs191973044 | 2e-12 | UBASH3B | G | 2.78 |
| rs143383679 | 3e-12 | LINC02929 | A | 1.04 |
| rs143750482 | 4e-08 | LY6H - GPIHBP1 | ? | |
| rs7902929 | 7e-07 | SORCS3 - LINC02627 | C | 1.51 |
| rs61944465 | 1e-06 | WASF3 - GPR12 | G | 1.29 |
| rs2603462 | 2e-06 | RPSAP72 - TENT5A | C | 1.3 |
| rs4370294 | 3e-06 | FAM153CP | G | 1.23 |
| rs61776730 | 5e-06 | CHORDC1P5 - CASP3P1 | A | 1.44 |
| rs76828179 | 5e-06 | FGD4 | A | 1.36 |
| rs10738370 | 9e-06 | NFIB-AS1 - ZDHHC21 | T | 1.25 |
| rs415468 | 9e-06 | ZNF221 | C | 1.22 |
| rs16981092 | 9e-06 | RIN2 | G | 1.22 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90651656 | Liu TY | 2025 | 2,380 | 215,981 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90134619 | Shade LM | 2022 | 2,184 | 2,944 | Genome-wide association study of brain arteriolosclerosis. |
| GCST90477985 | Verma A | 2024 | 1,229 | 447,410 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480192 | Verma A | 2024 | 410 | 120,570 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482019 | Verma A | 2024 | 410 | 120,570 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436140 | Zhou W | 2018 | 224 | 399,017 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 14 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 9 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 4 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 7 |
| intron_variant | 5 |
| non_coding_transcript_exon_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs116862240 | 12 | 98227192 | G>A | 0.002 | intron_variant | MIR4303 - RNU4-41P | 6e-15 | Tier 4: intronic/intergenic |
| rs550610210 | 2 | 140146343 | T>C | 0 | intergenic_variant | LINC01853 - MTCO1P44 | 2e-14 | Tier 4: intronic/intergenic |
| rs191973044 | 11 | 122764633 | G>A,C,T | 0 | non_coding_transcript_exon_variant | UBASH3B | 2e-12 | Tier 4: intronic/intergenic |
| rs143383679 | 10 | 62602630 | A>G | 0.006 | intron_variant | LINC02929 | 3e-12 | Tier 4: intronic/intergenic |
| rs143750482 | 8 | 143208056 | C>T | intergenic_variant | LY6H - GPIHBP1 | 4e-08 | Tier 4: intronic/intergenic | |
| rs7902929 | 10 | 105477774 | T>C | 0.05 | intergenic_variant | SORCS3 - LINC02627 | 7e-07 | Tier 4: intronic/intergenic |
| rs61944465 | 13 | 26698567 | G>A | 0.05 | non_coding_transcript_exon_variant | WASF3 - GPR12 | 1e-06 | Tier 4: intronic/intergenic |
| rs2603462 | 6 | 80708950 | A>C | 0.05 | intergenic_variant | RPSAP72 - TENT5A | 2e-06 | Tier 4: intronic/intergenic |
| rs4370294 | 5 | 178083514 | G>A,C,T | 0.05 | intergenic_variant | FAM153CP | 3e-06 | Tier 4: intronic/intergenic |
| rs61776730 | 1 | 70592056 | G>A,C,T | 0.05 | intergenic_variant | CHORDC1P5 - CASP3P1 | 5e-06 | Tier 4: intronic/intergenic |
| rs76828179 | 12 | 32441334 | G>A,C | 0.05 | intron_variant | FGD4 | 5e-06 | Tier 4: intronic/intergenic |
| rs10738370 | 9 | 14582344 | T>A,C | 0.05 | intergenic_variant | NFIB-AS1 - ZDHHC21 | 9e-06 | Tier 4: intronic/intergenic |
| rs415468 | 19 | 43952520 | C>A,G | 0.05 | intron_variant | ZNF221 | 9e-06 | Tier 4: intronic/intergenic |
| rs16981092 | 20 | 19764367 | G>A,C,T | 0.05 | intron_variant | RIN2 | 9e-06 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
0 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Aspirin | Phase 3 (in late-stage trials) |
| Clopidogrel | Phase 3 (in late-stage trials) |
| Colestipol Hydrochloride | Phase 3 (in late-stage trials) |
| Niacin | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ascorbic Acid, Lovastatin, Vitamin E.
Clinical trials & evidence
Clinical trials
Clinical trials: 5.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
| PHASE4 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03485495 | PHASE4 | COMPLETED | Clinical Trial of Efficacy and Safety of Divaza for Adjustment of Oxidative Disorders in Patients With Cerebral Atherosclerosis |
| NCT05585151 | PHASE4 | UNKNOWN | High-Resolution Assessment of Extracranial Plaques in a Multiple Centers Evolocumab Randomized Study |
| NCT03934021 | Not specified | COMPLETED | Gut Microbiota in Acute Stroke Patients |
| NCT04470492 | Not specified | UNKNOWN | Study on Prevention and Treatment of Atherosclerotic Cerebral Occlusive Disease With Remote Ischemic Conditioning |
| NCT04821726 | Not specified | UNKNOWN | DEB for Symptomatic Intracranial Atherosclerosis Stenosis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| EVOLOCUMAB | 4 | 1 |
Related Atlas pages
- Drugs: Evolocumab