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Atlas / Disease / Pulmonary tuberculosis

Pulmonary tuberculosis

disease
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Also known as lung TBlung tuberculosispulmonary TB

Summary

Pulmonary tuberculosis (MONDO:0006052) is a disease with 33 GWAS associations across 15 studies and 120 clinical trials. Top therapeutic interventions include isoniazid, pyrazinamide, and bedaquiline. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • GWAS associations: 33
  • Clinical trials: 120

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namepulmonary tuberculosis
Mondo IDMONDO:0006052
EFOEFO:1000049
MeSHD014397
DOIDDOID:2957
NCITC26899
SNOMED CT154283005
UMLSC0041327
MedGen11947
GARD0024276
Is cancer (heuristic)no

Also known as: lung TB · lung tuberculosis · pulmonary TB

Data availability: 33 GWAS associations (15 studies).

Disease family

This is a subtype of respiratory system 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 › respiratory system disorder › pulmonary tuberculosis

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

Subtypes (3): silicotuberculosis, tuberculous fibrosis of lung, primary pulmonary tuberculosis

Genetics & variants

GWAS landscape

33 GWAS associations across 15 studies. Top hits map to 19 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs1407808943e-23HLA-DQA1 - HLA-DQB1T0.19
rs2679511e-09DAP?40.52
rs748750322e-09RN7SKP108 - LINC02299?21.47
rs5296176859e-09MFAP2?129.69
rs1426006972e-08FSTL5?42.49
rs11184382e-08RN7SL602P - SMIM7P1?22.78
rs5582373e-08GTF2F2P2 - RIMS3?3.61
rs594411823e-08LMCD1-AS1?19.79
rs45638995e-08CSGALNACT1?29.27
rs76079191e-07MYT1LA2.08
rs2003315994e-07RBL1T0.1
rs43314265e-07RBBP8-AS1?
rs1118756288e-07HLA-DRB1 - HLA-DQA1A1.38
rs81808201e-06RN7SL292P - SGO1P2C1.33
rs4476002e-06LINC00648?5.31
rs620947932e-06LAMA3G2.32
rs116076073e-06SCN3B - ZNF202G1.33
rs620452254e-06NEDD4C1.49
rs134115125e-06CWC22 - SCHLAP1?0.56
rs38672185e-06CCNY-AS1?1.67
rs778574296e-06GBA3?4.28
rs92727856e-06HLA-DQA1?
rs1460507996e-06GEM - RPS4XP10T1.79
rs127170676e-06DSEL-AS1T1.32
rs1813017e-06LINC00648?1.63
rs6925447e-06TFF3 - TFF2?1.67
rs1919405477e-06LINC01830G3.94
rs49710148e-06PIP5K1A?0.53
rs37604959e-06GLOD4?2.72
rs74491771e-05LINC01194?1.62

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90018672Sakaue S20217,800170,871A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90473019UK Biobank Whole-Genome Sequencing Consortium20252,406456,034Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90275073Bai H20231,2021,584Genome-wide association study of tuberculosis in the western Chinese Han and Tibetan population.
GCST90018892Sakaue S2021895476,491A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90270069Phelan J20237140Genome-wide host-pathogen analyses reveal genetic interaction points in tuberculosis disease.
GCST90013692Ishigaki K2020549211,904Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
GCST90473020UK Biobank Whole-Genome Sequencing Consortium2025543457,897Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90246014Walters RG202348875,529Genotyping and population characteristics of the China Kadoorie Biobank.
GCST90270070Phelan J20234260Genome-wide host-pathogen analyses reveal genetic interaction points in tuberculosis disease.
GCST90101733Swart Y20213920Local Ancestry Adjusted Allelic Association Analysis Robustly Captures Tuberculosis Susceptibility Loci.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic29

MAF distribution

BucketVariants
common (>=0.05)26
low_freq (0.01-0.05)0
rare (<0.01)0
unknown4

Functional consequences

ConsequenceCount
intron_variant20
intergenic_variant9
missense_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs140780894632657607G>T0.371intergenic_variantHLA-DQA1 - HLA-DQB13e-23Tier 4: intronic/intergenic
rs267951510743308G>A,C,T0.05intron_variantDAP1e-09Tier 4: intronic/intergenic
rs748750321496668191C>G,Tintron_variantRN7SKP108 - LINC022992e-09Tier 4: intronic/intergenic
rs529617685116980770intron_variantMFAP29e-09Tier 4: intronic/intergenic
rs1426006974161684161CTT>C,CTTTT0.05intron_variantFSTL52e-08Tier 4: intronic/intergenic
rs1118438235137014T>C0.05intron_variantRN7SL602P - SMIM7P12e-08Tier 4: intronic/intergenic
rs558237140607800T>C0.05intergenic_variantGTF2F2P2 - RIMS33e-08Tier 4: intronic/intergenic
rs5944118238268967A>G0.05intron_variantLMCD1-AS13e-08Tier 4: intronic/intergenic
rs4563899819555738C>A,T0.05intron_variantCSGALNACT15e-08Tier 4: intronic/intergenic
rs760791922072748T>A0.05intron_variantMYT1L1e-07Tier 4: intronic/intergenic
rs2003315992037005894C>G,T0.05intron_variantRBL14e-07Tier 4: intronic/intergenic
rs43314261822610832G>A,T0.05intron_variantRBBP8-AS15e-07Tier 4: intronic/intergenic
rs111875628632616036intergenic_variantHLA-DRB1 - HLA-DQA18e-07Tier 4: intronic/intergenic
rs8180820751896850C>A,G,T0.05intergenic_variantRN7SL292P - SGO1P21e-06Tier 4: intronic/intergenic
rs4476001447856058T>A,C,G0.05intron_variantLINC006482e-06Tier 4: intronic/intergenic
rs620947931823822111C>G0.05intron_variantLAMA32e-06Tier 4: intronic/intergenic
rs1160760711123680747A>G0.05intergenic_variantSCN3B - ZNF2023e-06Tier 4: intronic/intergenic
rs620452251555978810T>C,G0.05intron_variantNEDD44e-06Tier 4: intronic/intergenic
rs134115122180075876T>A,C,G0.05intergenic_variantCWC22 - SCHLAP15e-06Tier 4: intronic/intergenic
rs38672181035238615T>C0.05intron_variantCCNY-AS15e-06Tier 4: intronic/intergenic
rs77857429422802462C>T0.05intron_variantGBA36e-06Tier 4: intronic/intergenic
rs9272785632642624G>A0.05missense_variantHLA-DQA16e-06Tier 1: coding
rs146050799894295560C>T0.05intergenic_variantGEM - RPS4XP106e-06Tier 4: intronic/intergenic
rs127170671867542600C>T0.05intron_variantDSEL-AS16e-06Tier 4: intronic/intergenic
rs1813011447879851A>C,G,T0.05intron_variantLINC006487e-06Tier 4: intronic/intergenic
rs6925442142339332T>C0.05intergenic_variantTFF3 - TFF27e-06Tier 4: intronic/intergenic
rs191940547222724280A>Gintergenic_variantLINC018307e-06Tier 4: intronic/intergenic
rs49710141151213026A>G,T0.05intron_variantPIP5K1A8e-06Tier 4: intronic/intergenic
rs376049517781489C>T0.05intron_variantGLOD49e-06Tier 4: intronic/intergenic
rs7449177512599236C>A,G,T0.05intron_variantLINC011941e-05Tier 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

9 approved, 15 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
Cortisone AcetateApproved (phase 4)
DexamethasoneApproved (phase 4)
IsoniazidApproved (phase 4)
PrednisoloneApproved (phase 4)
PrednisoneApproved (phase 4)
PretomanidApproved (phase 4)
PyrazinamideApproved (phase 4)
RifampinApproved (phase 4)
Triamcinolone AcetonideApproved (phase 4)
Aminosalicylic AcidPhase 3 (in late-stage trials)
ArgininePhase 3 (in late-stage trials)
BedaquilinePhase 3 (in late-stage trials)
CholecalciferolPhase 3 (in late-stage trials)
ClofaziminePhase 3 (in late-stage trials)
ContezolidPhase 3 (in late-stage trials)
CycloserinePhase 3 (in late-stage trials)
DelamanidPhase 3 (in late-stage trials)
ErgocalciferolPhase 3 (in late-stage trials)
EthambutolPhase 3 (in late-stage trials)
LinezolidPhase 3 (in late-stage trials)
MoxifloxacinPhase 3 (in late-stage trials)
ProtionamidePhase 3 (in late-stage trials)
RifapentinePhase 3 (in late-stage trials)
Zinc IonPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Amoxicillin, Cefadroxil, Clavulanic Acid, Ertapenem, Ethionamide, Faropenem, Meropenem, Midazolam, Phenylbutanoic Acid, Pravastatin, Pyridoxine, Rifabutin, Rosuvastatin, Sudapyridine.

Clinical trials & evidence

Clinical trials

Clinical trials: 120.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified48
PHASE241
PHASE319
PHASE45
PHASE13
PHASE2/PHASE32
PHASE1/PHASE22

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06476210PHASE4RECRUITINGThe Safety and Efficacy of BDL(Bedaquiline Plus Delamanid Plus Linezolid) Regimen in Subjects With Pulmonary Infection of Multi-drug Resistant Tuberculosis (MDR-TB) or Rifampicin-Resistant Tuberculosis (RR-TB)
NCT00298870PHASE4COMPLETEDRandomized Trial for Pharmacogenomics-based Tuberculosis Therapy (RT-PGTT)
NCT02169570PHASE4UNKNOWNEffect of Supplementary Vitamin D in Patients With Diabetes Mellitus and Pulmonary Tuberculosis
NCT02464683PHASE4UNKNOWNEffect of Vitamin D as Adjunctive Therapy in Patients With Pulmonary Evolution Tuberculosis
NCT05148949PHASE4UNKNOWNStudy on Three Doses of an Inactivated COVID-19 Vaccine in Chinese Pulmonary Tuberculosis Patients
NCT04260477PHASE3RECRUITINGNovel Triple-dose Tuberculosis Retreatment Regimen
NCT06081361PHASE3ACTIVE_NOT_RECRUITINGInnovating Shorter, All- Oral, Precised, Individualized Treatment Regimen for Rifampicin Resistant Tuberculosis：Contezolid, Delamanid and Bedaquiline Cohort
NCT06649721PHASE3ACTIVE_NOT_RECRUITINGInnovating Shorter, All- Oral, Precised Treatment Regimen for Rifampicin Resistant Tuberculosis：BDLL Chinese Cohort
NCT06727864PHASE3RECRUITINGShort Course Regimen in Low Risk Active Tuberculosis- a Multicenter, Randomized, Active-controlled, Trial
NCT06905522PHASE3RECRUITINGA PAN-USR TB Multi-Center Trial
NCT07076225PHASE3NOT_YET_RECRUITINGUltra-Short Regimen for Elderly DS-TB
NCT07118696PHASE3NOT_YET_RECRUITINGEvaluating a Shorter, Rifampicin-Based Treatment for People With Less Severe Tuberculosis Disease
NCT07209761PHASE3RECRUITINGA Study of Quabodepistat-containing Regimens for the Treatment of Drug-resistant Pulmonary Tuberculosis
NCT07268664PHASE3NOT_YET_RECRUITINGInnovating Shorter, All- Oral, Precised Treatment Regimen for Rifampicin Resistant Tuberculosis：BLMZ Chinese Cohort
NCT00023335PHASE3COMPLETEDTBTC Study 22: Efficacy of Once-Weekly Rifapentine and Isoniazid in Treatment of Tuberculosis
NCT00057434PHASE3COMPLETEDVitamin A Therapy for Tuberculosis
NCT00366470PHASE3COMPLETEDA Clinical Trial to Study the Effect of the Addition of Vitamin D to Conventional Treatment in New Pulmonary Tuberculosis Patients
NCT00571753PHASE3TERMINATEDIsoniazid Dose Adjustment According to NAT2 Genotype (IDANAT2)
NCT00698386PHASE3UNKNOWNEfficacy of Oral Zinc Administration as an Adjunct Therapy in New Pulmonary Tuberculosis (Category I) Patients
NCT00864383PHASE3COMPLETEDControlled Comparison of Two Moxifloxacin Containing Treatment Shortening Regimens in Pulmonary Tuberculosis
NCT00933790PHASE3COMPLETEDComparing Daily vs Intermittent Regimen of ATT in HIV With Pulmonary Tuberculosis
NCT01154959PHASE3COMPLETEDLatency in Pulmonary Tuberculosis
NCT02333799PHASE3COMPLETEDA Phase 3 Trial Assessing Safety and Efficacy of B-Pa-L in Participants With DR-TB
NCT02467608PHASE2/PHASE3COMPLETEDEfficacy of HUEXC030 in Subjects With Pulmonary Tuberculosis
NCT02581527PHASE3COMPLETEDA Randomised Trial to Evaluate Toxicity and Efficacy of 1200mg and 1800mg Rifampicin for Pulmonary Tuberculosis
NCT04081077PHASE2/PHASE3UNKNOWNPRACTECAL-PKPD Sub Study
NCT05807399PHASE2RECRUITINGPanACEA - STEP2C -01
NCT06058299PHASE2ACTIVE_NOT_RECRUITINGPhase 2 Trial Assessing TBAJ876 or Bedaquiline, with Pretomanid and Linezolid in Adults with Drug-sensitive Pulmonary Tuberculosis
NCT06114628PHASE2RECRUITINGPlatform Assessing Regimens and Durations In a Global Multisite Consortium for TB
NCT06192160PHASE2RECRUITINGTrial of Novel Regimens for the Treatment of Pulmonary Tuberculosis
NCT06199921PHASE2RECRUITINGATORvastatin in Pulmonary TUBerculosis
NCT07303699PHASE2RECRUITINGATORvastatin in Pulmonary TUBerculosis: a POPulation PharmacoKinetics -PharmacoDynamics Sub-study (ATORTUB popPK-PD)
NCT07467252PHASE2NOT_YET_RECRUITINGAIPH-TB: AI-Optimised Pyrazinamide-Hydroxychloroquine vs Standard RIPE for Drug-Sensitive Pulmonary Tuberculosis - A Phase II RCT
NCT00001407PHASE2COMPLETEDInterferon Gamma for Drug Resistant Tuberculosis
NCT00374517PHASE2WITHDRAWNPimonidazole Hydrochloride to Detect Low Oxygen in Tuberculosis-Infected Lungs
NCT00401271PHASE2COMPLETEDSafety, Efficacy and Pharmacokinetics of OPC-67683 in Patients With Pulmonary Tuberculosis
NCT00567840PHASE2COMPLETEDPA-824-CL-007: Phase IIa Evaluation of Early Bactericidal Activity in Pulmonary Tuberculosis
NCT00694629PHASE2COMPLETEDTBTC Study 29: Rifapentine During Intensive Phase Tuberculosis (TB) Treatment
NCT00727844PHASE2COMPLETEDLinezolid to Treat Extensively-Drug Resistant Tuberculosis
NCT00944021PHASE2COMPLETEDEvaluation of Early Bactericidal Activity in Pulmonary Tuberculosis (CL-010)

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ISONIAZID417
PYRAZINAMIDE414
BEDAQUILINE412
PRETOMANID412
ETHAMBUTOL411
LINEZOLID48
RIFAMPIN47
DELAMANID46
MOXIFLOXACIN45
CLOFAZIMINE43
ATORVASTATIN42
MEROPENEM42
RIFAPENTINE42
AMINOSALICYLIC ACID41
CALCIUM41
CEFADROXIL41
CHOLECALCIFEROL41
CLAVULANIC ACID41
CYCLOSERINE41
ERGOCALCIFEROL41
ERTAPENEM41
ETHIONAMIDE41
FLUDEOXYGLUCOSE F 1841
INTERFERON GAMMA-1B41
PRAVASTATIN41
PYRIDOXINE41
RIFABUTIN41
FAROPENEM32
CONTEZOLID31
INTERFERON GAMMA-1A31

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 22

This page pulls from 22 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpdoidefogardgenccgwasgwas_studyhgncmedgenmeshmimmondomondochildmondoparentncitorphanetsctidumls