Carotid artery disorder

Summary

Carotid artery disorder (MONDO:0005269) is a disease (an umbrella term covering 6 Mondo subtypes) with 31 GWAS associations across 2 studies. A subtype of arterial disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes
• GWAS associations: 31

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	carotid artery disorder
Mondo ID	MONDO:0005269
EFO	EFO:0003781
MeSH	D002340
DOID	DOID:3407
NCIT	C84476
SNOMED CT	371160000
UMLS	C0007273
MedGen	2892
Anatomy (UBERON)	UBERON:0005396
Is cancer (heuristic)	no

Also known as: carotid artery disorder · carotid artery segment disease · carotid artery segment disease or disorder · disease of carotid artery segment · disease or disorder of carotid artery segment · disorder of carotid artery segment

Data availability: 31 GWAS associations (2 studies).

Disease family

This is a subtype of arterial disorder. 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 › carotid artery disorder

Related subtypes (29): vertebral artery insufficiency, splenic artery aneurysm, basilar artery insufficiency, arteriosclerosis disorder, subclavian artery aneurysm, pulmonary artery choriocarcinoma, pulmonary artery leiomyosarcoma, coronary artery disorder, hypertensive disorder, pulmonary embolism, peripheral arterial disease, hypotensive disorder, large artery stroke, aortic disorder, cervical artery dissection, anterior spinal artery syndrome, fibromuscular dysplasia, retinal arterial tortuosity, Sneddon syndrome, celiac trunk compression syndrome, pediatric arterial ischemic stroke, absence of the pulmonary artery, arterial occlusion, aberrant subclavian artery, anterior spinal artery stroke, arteritis, pulmonary artery disease, fibromuscular dysplasia, multifocal, carotid web

Subtypes (6): carotid stenosis, carotid artery occlusion, carotid artery dissection, carotid artery thrombosis, autonomic facial cephalgia, extracranial carotid artery aneurysm

Genetics & variants

GWAS landscape

31 GWAS associations across 2 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
chr20:29890059	4e-17		GAA	1.23
rs141330139	1e-16	LINC02173 - ACTR6P1	C	1.12
rs1161792435	2e-16	LINC01122 - RNU6-508P	ACTT	1.03
rs377527747	2e-14	MTCO1P6 - U3	GTCTT	0.91
rs59062269	3e-14	NPS - FOXI2	C	0.87
rs1340396994	6e-14	EMBP1 - RNA5SP533	T	1.25
rs1347320243	7e-14	CBX1P5 - PPIAP74	CTTTT	1.48
rs866262287	2e-13	OR1S2 - OR1S1	G	0.86
rs1370063886	3e-13	LDHAP4 - CLCN3P1	CCTT	1.07
rs143628299	6e-13	CYB5AP5 - NOVA1	A	0.88
rs1419088570	2e-12	GABRG2 - RNU6-164P	TAGA	1.28
rs200364330	1e-11	PDE5A	A	1.02
rs139225422	1e-11	Y_RNA - SPOCK3	T	1.29
rs60593674	2e-11	RHAG - CRISP2	G	0.54
rs528796598	2e-11	LINC01520 - RNU6-325P	A	1.31
rs36178718	3e-11	ABCA12 - LINC02862	G	1.37
rs1362149690	3e-11	RPS2P25 - PTP4A1P4	AAG	1.14
rs139810731	8e-11	DBF4P1 - RPL17P35	G	0.93
rs1208590626	2e-10	CYP4F44P - HSPA8P13	G	1.28
rs1463582418	2e-10	OR4A6P - TRIM48	A	0.97
rs55822411	1e-09	SPOCK1	A	0.98
rs938277067	2e-09	ZNF804A	T	0.76
rs1373039730	4e-09	GRIK2 - R3HDM2P2	AAAGCT	1.26
rs1267433756	4e-09	TUBAP15 - RNU6-718P	T	1.11
rs201449840	8e-09	PIEZO2	A	0.43
rs1178075371	1e-08	PRSS35 - SNAP91	GTTGT	1.26
rs1375736983	1e-08	IZUMO3 - RMRPP5	CCT	1.27
rs61653075	1e-08	MAMDC2, MAMDC2-AS1	T	0.44
chr2:81350489	2e-08		CAAG	0.86
rs36153949	3e-08	IFITM3P1 - MIR1269A	A	1

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90319540	Cheng S	2023	0	0	The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
GCST000555	Shrestha S	2010	0	0	A genome-wide association study of carotid atherosclerosis in HIV-infected men.

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	31

MAF distribution

Bucket	Variants
common (>=0.05)	12
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	19

Functional consequences

Consequence	Count
intergenic_variant	17
intron_variant	11
unknown	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr20:29890059							4e-17	Tier 4: intronic/intergenic
rs141330139	4	106712536	CTTA>C	0.05	intron_variant	LINC02173 - ACTR6P1	1e-16	Tier 4: intronic/intergenic
rs1161792435	2	59406912	A>ACTT		intron_variant	LINC01122 - RNU6-508P	2e-16	Tier 4: intronic/intergenic
rs377527747	3	89735491	G>GTCTT		intergenic_variant	MTCO1P6 - U3	2e-14	Tier 4: intronic/intergenic
rs59062269	10	127710094	CCT>C	0.05	intergenic_variant	NPS - FOXI2	3e-14	Tier 4: intronic/intergenic
rs1340396994	1	123820109	C>A,G,T		intergenic_variant	EMBP1 - RNA5SP533	6e-14	Tier 4: intronic/intergenic
rs1347320243	3	166906264	C>CTTTT		intergenic_variant	CBX1P5 - PPIAP74	7e-14	Tier 4: intronic/intergenic
rs866262287	11	58208164	A>G		intergenic_variant	OR1S2 - OR1S1	2e-13	Tier 4: intronic/intergenic
rs1370063886	9	14971242	C>CCTT		intergenic_variant	LDHAP4 - CLCN3P1	3e-13	Tier 4: intronic/intergenic
rs143628299	14	26314210	AAAAC>A	0.05	intergenic_variant	CYB5AP5 - NOVA1	6e-13	Tier 4: intronic/intergenic
rs1419088570	5	162306202	T>TAGA		intergenic_variant	GABRG2 - RNU6-164P	2e-12	Tier 4: intronic/intergenic
rs200364330	4	119576146	AAT>A	0.05	intron_variant	PDE5A	1e-11	Tier 4: intronic/intergenic
rs139225422	4	166466382	TG>T	0.05	intron_variant	Y_RNA - SPOCK3	1e-11	Tier 4: intronic/intergenic
rs60593674	6	49671687	GACAA>G,GACAAACAA	0.05	intergenic_variant	RHAG - CRISP2	2e-11	Tier 4: intronic/intergenic
rs528796598	10	85500575	G>A,T		intergenic_variant	LINC01520 - RNU6-325P	2e-11	Tier 4: intronic/intergenic
rs36178718	2	215224530	GACAA>G	0.05	intron_variant	ABCA12 - LINC02862	3e-11	Tier 4: intronic/intergenic
rs1362149690	5	85795249	A>AAG		intergenic_variant	RPS2P25 - PTP4A1P4	3e-11	Tier 4: intronic/intergenic
rs139810731	10	64561959	GTTCATA>G,GTTCATATTCATA	0.05	intron_variant	DBF4P1 - RPL17P35	8e-11	Tier 4: intronic/intergenic
rs1208590626	8	43867963	A>G		intergenic_variant	CYP4F44P - HSPA8P13	2e-10	Tier 4: intronic/intergenic
rs1463582418	11	54820437	AAAGTTTAACTCTGTC>A		intergenic_variant	OR4A6P - TRIM48	2e-10	Tier 4: intronic/intergenic
rs55822411	5	137526773	AAC>A	0.05	intergenic_variant	SPOCK1	1e-09	Tier 4: intronic/intergenic
rs938277067	2	184795636	G>A,T		intron_variant	ZNF804A	2e-09	Tier 4: intronic/intergenic
rs1373039730	6	103804961	A>AAAGCT		intergenic_variant	GRIK2 - R3HDM2P2	4e-09	Tier 4: intronic/intergenic
rs1267433756	5	120275506	A>C,T		intron_variant	TUBAP15 - RNU6-718P	4e-09	Tier 4: intronic/intergenic
rs201449840	18	11060873	ATAG>A	0.05	intron_variant	PIEZO2	8e-09	Tier 4: intronic/intergenic
rs1178075371	6	83542266	G>GTTGT		intergenic_variant	PRSS35 - SNAP91	1e-08	Tier 4: intronic/intergenic
rs1375736983	9	24790891	C>CCT		intergenic_variant	IZUMO3 - RMRPP5	1e-08	Tier 4: intronic/intergenic
rs61653075	9	70208752	TATG>T,TATGATG	0.05	intron_variant	MAMDC2, MAMDC2-AS1	1e-08	Tier 4: intronic/intergenic
chr2:81350489							2e-08	Tier 4: intronic/intergenic
rs36153949	4	66251311	AG>A	0.05	intron_variant	IFITM3P1 - MIR1269A	3e-08	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, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Colestipol Hydrochloride	Phase 3 (in late-stage trials)
Lithium Carbonate	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, Atorvastatin, Simvastatin, Vitamin E.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.