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Atlas / Disease / Brain infarction

Brain infarction

disease
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Summary

Brain infarction (MONDO:0005394) is a disease with 41 GWAS associations across 10 studies and 38 clinical trials. Top therapeutic interventions include eptifibatide, alteplase, and warfarin. A subtype of cerebrovascular disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • GWAS associations: 41
  • Clinical trials: 38

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namebrain infarction
Mondo IDMONDO:0005394
EFOEFO:0004277
MeSHD020520
DOIDDOID:3454
UMLSC0751955
MedGen148426
Anatomy (UBERON)UBERON:0003499
Is cancer (heuristic)no

Data availability: 41 GWAS associations (10 studies).

Disease family

This is a subtype of cerebrovascular 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 › nervous system disorder › central nervous system disorder › brain disorder › cerebrovascular disorder › brain infarction

Related subtypes (23): cerebral arteritis, intracranial thrombosis, occlusion precerebral artery, vascular dementia, stroke disorder, internal carotid artery stenosis, carotid artery disorder, brain ischemia, cerebral amyloid angiopathy, vascular brain injury, basal ganglia cerebrovascular disorder, intracranial arterial disease, intracranial vasospasm, subclavian steal syndrome, pseudotumor cerebri, cerebral sinovenous thrombosis, HTRA1-related autosomal dominant cerebral small vessel disease, familial porencephaly, microangiopathy and leukoencephalopathy, pontine, autosomal dominant, cathepsin a-related arteriopathy-strokes-leukoencephalopathy, precerebral artery stenosis, cerebral artery stenosis, APP-related brain and vascular amyloidosis

Subtypes (3): cerebral infarction, MRI defined brain infarct, brain stem infarction

Genetics & variants

GWAS landscape

41 GWAS associations across 10 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs4293583e-33APOET
rs114378476e-12FGF5CT1.12
chr8:1414496069e-09?3.12
chr19:23432752e-08?5.19
chr11:655542712e-08?4.8
chr17:300343533e-08?3.87
chr3:1971139617e-08C
chr15:412581211e-06C
rs41459531e-06POLD3A
chr6:445352251e-06G
rs22913541e-06ATP10AA
rs115843081e-06KAZNC
rs101971792e-06ALKT
rs590083502e-06GGCTP2 - RN7SL14PC
rs727232712e-06LINC02514 - LINC02515T
rs24464852e-06CDKAL1G
rs287946453e-06RPL7P59 - DPY19L4P2C
rs75216603e-06SLC35F3G
chr3:432093004e-06G
rs81073884e-06ZNF649C
rs117650384e-06SLC29A4A
rs38219835e-06RBM47C
rs24811185e-06TEX29 - LINC02337C
rs129541965e-06LINC01254 - APCDD1A
chr3:709291005e-06G
rs71074645e-06RAG1T
rs65407965e-06RPL31P13 - PROX1-AS1A
rs93214296e-06RN7SL408P - SGK1C
rs111624107e-06GIPC2C
chr3:598595977e-06G

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90246098Walters RG202314,30267,954Genotyping and population characteristics of the China Kadoorie Biobank.
GCST90080035Backman JD20214,520382,615Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084021Backman JD20214,520382,615Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90044000Jiang L20212,968453,380A generalized linear mixed model association tool for biobank-scale data.
GCST90432123Rodriguez-Flores JL20241,27426,602NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
GCST90726916Kim HI202643443,592Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90832957Kim HI202643443,592Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90012830Chibnik LB20173270Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.
GCST90012829Chibnik LB20172530Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.
GCST90012832Chibnik LB201700Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic39

MAF distribution

BucketVariants
common (>=0.05)31
low_freq (0.01-0.05)6
rare (<0.01)0
unknown4

Functional consequences

ConsequenceCount
intron_variant19
unknown12
intergenic_variant8
missense_variant1
5_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs4293581944908684T>C0.15missense_variantAPOE3e-33Tier 1: coding
rs11437847480270367T>TG0.387intron_variantFGF56e-12Tier 4: intronic/intergenic
chr8:1414496069e-09Tier 4: intronic/intergenic
chr19:23432752e-08Tier 4: intronic/intergenic
chr11:655542712e-08Tier 4: intronic/intergenic
chr17:300343533e-08Tier 4: intronic/intergenic
chr3:1971139610.047e-08Tier 4: intronic/intergenic
chr15:412581210.041e-06Tier 4: intronic/intergenic
rs41459531174620834A>C,G,T0.2intron_variantPOLD31e-06Tier 4: intronic/intergenic
chr6:445352250.051e-06Tier 4: intronic/intergenic
rs22913541525707742G>A0.48intron_variantATP10A1e-06Tier 4: intronic/intergenic
rs11584308114479497C>G0.2intron_variantKAZN1e-06Tier 4: intronic/intergenic
rs10197179229250070T>G0.1intron_variantALK2e-06Tier 4: intronic/intergenic
rs590083502018239041C>T0.04intergenic_variantGGCTP2 - RN7SL14P2e-06Tier 4: intronic/intergenic
rs727232714187387101T>A,C,G0.06intron_variantLINC02514 - LINC025152e-06Tier 4: intronic/intergenic
rs2446485621140068A>C,G,T0.18intron_variantCDKAL12e-06Tier 4: intronic/intergenic
rs287946457145343057C>A,T0.24intergenic_variantRPL7P59 - DPY19L4P23e-06Tier 4: intronic/intergenic
rs75216601234199300G>A,C,T0.1intron_variantSLC35F33e-06Tier 4: intronic/intergenic
chr3:432093000.054e-06Tier 4: intronic/intergenic
rs81073881951904033C>A,G0.1intron_variantZNF6494e-06Tier 4: intronic/intergenic
rs1176503875296474G>A,C0.32intron_variantSLC29A44e-06Tier 4: intronic/intergenic
rs3821983440433373T>A,C,G0.3intron_variantRBM475e-06Tier 4: intronic/intergenic
rs248111813111576516T>C,G0.44intergenic_variantTEX29 - LINC023375e-06Tier 4: intronic/intergenic
rs129541961810424217A>G0.28intergenic_variantLINC01254 - APCDD15e-06Tier 4: intronic/intergenic
chr3:709291000.095e-06Tier 4: intronic/intergenic
rs71074641136563394T>A,C0.095_prime_UTR_variantRAG15e-06Tier 2: splice/UTR
rs65407961213648324G>A,T0.3intron_variantRPL31P13 - PROX1-AS15e-06Tier 4: intronic/intergenic
rs93214296134154611G>A,C,T0.36intergenic_variantRN7SL408P - SGK16e-06Tier 4: intronic/intergenic
rs11162410178056247C>G,T0.14intron_variantGIPC27e-06Tier 4: intronic/intergenic
chr3:598595970.027e-06Tier 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.

DrugDevelopment status
AspirinPhase 3 (in late-stage trials)
ClopidogrelPhase 3 (in late-stage trials)
WarfarinPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Eptifibatide, Sodium Chloride.

Clinical trials & evidence

Clinical trials

Clinical trials: 38.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified25
PHASE35
PHASE24
PHASE42
PHASE1/PHASE22

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00126516PHASE4COMPLETEDAngiotensin II Receptor Blockers (ARB) and ACE Inhibitors (ACEI) on Silent Brain Infarction and Cognitive Decline
NCT05068349PHASE4UNKNOWNFor Patients With Ischemic Stroke, Clinically Study the Effectiveness and Safety of Butylphthalide.
NCT07497542PHASE3NOT_YET_RECRUITINGNormal Saline Infusion After Intravenous Thrombolysis in Stroke
NCT00141011PHASE3TERMINATEDAncrod (Viprinex™) for the Treatment of Acute, Ischemic Stroke
NCT00235248PHASE3COMPLETEDAortic Arch Related Cerebral Hazard Trial (ARCH)
NCT00300196PHASE3TERMINATEDASP-II: Ancrod Stroke Program: Ancrod (Viprinex™) for the Treatment of Acute, Ischemic Stroke
NCT00343174PHASE3COMPLETEDIntravenous Ancrod for the Treatment of Acute Ischemic Stroke Within 6 Hours After Onset of Symptoms
NCT00151177PHASE1/PHASE2COMPLETEDContinuous Positive Airway Pressure Ventilation After Acute Ischemic Stroke
NCT00894803PHASE2COMPLETEDStudy of the Combination Therapy of Rt-PA and Eptifibatide to Treat Acute Ischemic Stroke
NCT01059149PHASE2TERMINATEDSafety and Long-term Effectiveness of High Frequency Repetitive Transcranial Magnetic Stimulation of Stroke (RAICup)
NCT01977456PHASE2COMPLETEDStudy of the Combination Therapy of Rt-PA and Eptifibatide to Treat Acute Ischemic Stroke (CLEAR-FDR)
NCT03448159PHASE2COMPLETEDFluoxetine Opens Window to Improve Motor Recovery After Stroke
NCT04093336PHASE1/PHASE2UNKNOWNEffect of Mesenchymal Stem Cells(MSCs) Transplantation for Acute Cerebral Infarction Patients
NCT01934725Not specifiedACTIVE_NOT_RECRUITINGSearching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome
NCT05884762Not specifiedRECRUITINGearlY Upper Limb Rehabilitation WIth EEG-Neurofeedback After Stroke
NCT06633809Not specifiedRECRUITINGTherapy Evaluation in Patients With Minor Stroke and Large Vessel Occlusion
NCT06784518Not specifiedNOT_YET_RECRUITINGStroke Cerebral Reorganization Pathways (SPECTRE)
NCT06954610Not specifiedRECRUITINGCardiac Assessment for Recurrent Stroke Risk Evaluation in Atrial Fibrillation
NCT00657969Not specifiedUNKNOWNLooking For Genetic and Environmental Risk Factors and Therapeutic Aspects in Cervical Artery Dissections
NCT00829361Not specifiedCOMPLETEDStroke Telemedicine for Arizona Rural Residents Trial
NCT00871715Not specifiedCOMPLETEDArm Rehabilitation Study After Stroke
NCT01201629Not specifiedTERMINATEDTranscranial Direct Current Stimulation, Improve Functional Motor Recovery, Affected Arm
NCT01561677Not specifiedUNKNOWNConsequences of Obstructive Sleep Apnea Syndrome (OSAS) After Ischemic Subtentorial Stroke.
NCT01674452Not specifiedCOMPLETEDHome-based Exercises for Patients With Stroke
NCT01915368Not specifiedCOMPLETEDDetermining Optimal Post-Stroke Exercise (DOSE)
NCT02235974Not specifiedUNKNOWNCritical Periods After Stroke Study (CPASS)
NCT02389894Not specifiedCOMPLETEDNeuroprotection in Patients Undergoing Aortic Valve Replacement
NCT02684825Not specifiedCOMPLETEDDetection of Silent Atrial Fibrillation aFter Ischemic StrOke
NCT03318744Not specifiedUNKNOWNAntiplatelet Therapy for Silent Brain Infarction
NCT03617159Not specifiedUNKNOWNRole of Advanced Magnetic Resonance Imaging in Assessment of Pediatric Cerebral Stroke
NCT04043559Not specifiedCOMPLETEDCortical Cerebellar Infarctions Associated With Patent Foramen Ovale in Young Stroke Patients
NCT04232163Not specifiedCOMPLETEDArm Boot Camp Study: Evaluation of a Program to Increase Upper Limb Recovery After Stroke
NCT04265664Not specifiedCOMPLETEDTelerehabilitation With Aims to Improve Lower Extremity Recovery Post-Stroke
NCT04270513Not specifiedUNKNOWNFlying Intervention Team for Endovascular Treatment of Acute Ischemic Stroke in Rural Areas
NCT04908241Not specifiedUNKNOWNTelerehabilitation With Aims to Improve Lower Extremity Recovery Post-Stroke (TRAIL-RCT)
NCT04941482Not specifiedCOMPLETEDIntervention Effectiveness Towards Improving Physical and Mental Health for Post-stroke Patients.
NCT05086874Not specifiedCOMPLETEDUsing Real-world Evidence to Analyze the Clinical Effects and Adverse Events of Butylphthalide in Stroke Patients
NCT05169450Not specifiedCOMPLETEDEfficacy of Diterpene Ginkgolides Meglumine Injection in Elderly Patients With Ischemic Stroke

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
EPTIFIBATIDE42
ALTEPLASE41
WARFARIN41
ANCROD33
RAC-3-N-BUTYLPHTHALIDE32
LUFENURON21
CHEMBL24981802

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 20

This page pulls from 20 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpdoidefogenccgwasgwas_studyhgncmedgenmeshmimmondomondochildmondoparentorphanetuberonumls