Trait: respiratory tract infectious disorder

Trait Information
Identifier MONDO_0024355
Description Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. [MESH: D012141]
Trait category
Other disease
Synonyms 10 synonyms
  • infection, respiratory tract
  • infections, respiratory
  • infections, respiratory tract
  • infections, upper respiratory
  • infections, upper respiratory tract
  • respiratory infection, upper
  • respiratory infections
  • respiratory tract infection
  • upper respiratory infections
  • upper respiratory tract infections
Mapped terms 3 mapped terms
  • ICD9:519.8
  • MESH:D012141
  • SCTID:275498002
Child trait(s) pneumonia

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "respiratory tract infectious disorder" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000925
(GBE_HC1020)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Unspecified acute lower respiratory infection (time-to-event) respiratory tract infectious disorder 402
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000925/ScoringFiles/PGS000925.txt.gz
PGS019260
(TPMI_465_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Acute upper respiratory infections of multiple or unspecified sites respiratory tract infectious disorder 407,569
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019260/ScoringFiles/PGS019260.txt.gz
PGS019261
(TPMI_465_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Acute upper respiratory infections of multiple or unspecified sites respiratory tract infectious disorder 939,886
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019261/ScoringFiles/PGS019261.txt.gz
PGS019262
(TPMI_465_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Acute upper respiratory infections of multiple or unspecified sites respiratory tract infectious disorder 517,153
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019262/ScoringFiles/PGS019262.txt.gz
PGS019263
(TPMI_465_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Acute upper respiratory infections of multiple or unspecified sites respiratory tract infectious disorder 983,822
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019263/ScoringFiles/PGS019263.txt.gz
PGS019264
(TPMI_465_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Acute upper respiratory infections of multiple or unspecified sites respiratory tract infectious disorder 897,911
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019264/ScoringFiles/PGS019264.txt.gz
PGS019280
(TPMI_480_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Pneumonia pneumonia 144
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019280/ScoringFiles/PGS019280.txt.gz
PGS019281
(TPMI_480_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Pneumonia pneumonia 149,980
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019281/ScoringFiles/PGS019281.txt.gz
PGS019282
(TPMI_480_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Pneumonia pneumonia 517,334
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019282/ScoringFiles/PGS019282.txt.gz
PGS019283
(TPMI_480_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Pneumonia pneumonia 983,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019283/ScoringFiles/PGS019283.txt.gz
PGS019284
(TPMI_480_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Pneumonia pneumonia 947,856
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019284/ScoringFiles/PGS019284.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM007452 PGS000925
(GBE_HC1020)
 PSS004064|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE unspecified acute lower respiratory infection — AUROC: 0.57269 [0.54679, 0.59859] R²: 0.01184
Incremental AUROC (full-covars): -0.00336
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.50444 [0.47789, 0.53099]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007453 PGS000925
(GBE_HC1020)
 PSS004065|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE unspecified acute lower respiratory infection — AUROC: 0.60323 [0.54812, 0.65835] R²: 0.03851
Incremental AUROC (full-covars): -0.00133
PGS R2 (no covariates): 6e-05
PGS AUROC (no covariates): 0.50156 [0.44741, 0.55572]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007454 PGS000925
(GBE_HC1020)
 PSS004066|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE unspecified acute lower respiratory infection — AUROC: 0.5999 [0.58827, 0.61153] R²: 0.02334
Incremental AUROC (full-covars): -0.00017
PGS R2 (no covariates): 0.00015
PGS AUROC (no covariates): 0.50839 [0.49651, 0.52027]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007455 PGS000925
(GBE_HC1020)
 PSS004067|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE unspecified acute lower respiratory infection — AUROC: 0.59639 [0.57815, 0.61463] R²: 0.02321
Incremental AUROC (full-covars): -0.00306
PGS R2 (no covariates): 0.00104
PGS AUROC (no covariates): 0.47878 [0.46019, 0.49737]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007456 PGS000925
(GBE_HC1020)
 PSS004068|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE unspecified acute lower respiratory infection — AUROC: 0.58398 [0.57742, 0.59055] R²: 0.01732
Incremental AUROC (full-covars): 0.00092
PGS R2 (no covariates): 0.00054
PGS AUROC (no covariates): 0.51573 [0.50903, 0.52242]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM038866 PGS000925
(GBE_HC1020)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.0152 — — — —
PPM037442 PGS019260
(TPMI_465_Lassosum2)
 PSS013163|
East Asian Ancestry|
18,660 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Acute upper respiratory infections of multiple or unspecified sites — AUROC: 0.71615 R²: 0.28487 sex, age, array, PCs 1-10 —
PPM037443 PGS019261
(TPMI_465_LDpred2)
 PSS013162|
East Asian Ancestry|
18,660 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Acute upper respiratory infections of multiple or unspecified sites — AUROC: 0.71605 R²: 0.28476 sex, age, array, PCs 1-10 —
PPM037444 PGS019262
(TPMI_465_MegaPRS)
 PSS013164|
East Asian Ancestry|
18,660 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Acute upper respiratory infections of multiple or unspecified sites — AUROC: 0.71607 R²: 0.28476 sex, age, array, PCs 1-10 —
PPM037445 PGS019263
(TPMI_465_PRS-CS)
 PSS013165|
East Asian Ancestry|
18,660 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Acute upper respiratory infections of multiple or unspecified sites — AUROC: 0.71618 R²: 0.28489 sex, age, array, PCs 1-10 —
PPM037446 PGS019264
(TPMI_465_SBayesR)
 PSS013166|
East Asian Ancestry|
18,660 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Acute upper respiratory infections of multiple or unspecified sites — AUROC: 0.71596 R²: 0.28467 sex, age, array, PCs 1-10 —
PPM037462 PGS019280
(TPMI_480_Lassosum2)
 PSS013183|
East Asian Ancestry|
18,873 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Pneumonia — AUROC: 0.61192 R²: 0.04685 sex, age, array, PCs 1-10 —
PPM037463 PGS019281
(TPMI_480_LDpred2)
 PSS013182|
East Asian Ancestry|
18,873 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Pneumonia — AUROC: 0.61184 R²: 0.04681 sex, age, array, PCs 1-10 —
PPM037464 PGS019282
(TPMI_480_MegaPRS)
 PSS013184|
East Asian Ancestry|
18,873 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Pneumonia — AUROC: 0.6121 R²: 0.04688 sex, age, array, PCs 1-10 —
PPM037465 PGS019283
(TPMI_480_PRS-CS)
 PSS013185|
East Asian Ancestry|
18,873 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Pneumonia — AUROC: 0.61189 R²: 0.0468 sex, age, array, PCs 1-10 —
PPM037466 PGS019284
(TPMI_480_SBayesR)
 PSS013186|
East Asian Ancestry|
18,873 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Pneumonia — AUROC: 0.61187 R²: 0.0469 sex, age, array, PCs 1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS013182 003.22, 020.3, 020.4, 020.5, 021.2, 022.1, 031.0, 039.1, 052.1, 055.1, 073.0, 083.0, 112.4, 114.0, 114.4, 114.5, 130.4, 136.3, 480, 481, 482, 483, 484, 485, 486, 513, 517.1, V12.61,A02.22, A20.2, A21.2, A22.1, A31.0, A37.01, A37.11, A37.81, A37.91, A42.0, A43.0, A48.1, A75, A78, B01.2, B05.2, B25.0, B37.1, B38.0, B38.1, B38.2, B44.0, B58.3, B59, B77.81, J12, J13, J14, J15.0, J15.1, J15.2, J15.3, J15.4, J15.5, J15.6, J15.7, J15.8, J15.9, J16.0, J16.8, J17, J18, J85, Z87.01 —
[
  • 736 cases
  • , 18,137 controls
]
,
46.09 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013183 003.22, 020.3, 020.4, 020.5, 021.2, 022.1, 031.0, 039.1, 052.1, 055.1, 073.0, 083.0, 112.4, 114.0, 114.4, 114.5, 130.4, 136.3, 480, 481, 482, 483, 484, 485, 486, 513, 517.1, V12.61,A02.22, A20.2, A21.2, A22.1, A31.0, A37.01, A37.11, A37.81, A37.91, A42.0, A43.0, A48.1, A75, A78, B01.2, B05.2, B25.0, B37.1, B38.0, B38.1, B38.2, B44.0, B58.3, B59, B77.81, J12, J13, J14, J15.0, J15.1, J15.2, J15.3, J15.4, J15.5, J15.6, J15.7, J15.8, J15.9, J16.0, J16.8, J17, J18, J85, Z87.01 —
[
  • 736 cases
  • , 18,137 controls
]
,
46.09 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013184 003.22, 020.3, 020.4, 020.5, 021.2, 022.1, 031.0, 039.1, 052.1, 055.1, 073.0, 083.0, 112.4, 114.0, 114.4, 114.5, 130.4, 136.3, 480, 481, 482, 483, 484, 485, 486, 513, 517.1, V12.61,A02.22, A20.2, A21.2, A22.1, A31.0, A37.01, A37.11, A37.81, A37.91, A42.0, A43.0, A48.1, A75, A78, B01.2, B05.2, B25.0, B37.1, B38.0, B38.1, B38.2, B44.0, B58.3, B59, B77.81, J12, J13, J14, J15.0, J15.1, J15.2, J15.3, J15.4, J15.5, J15.6, J15.7, J15.8, J15.9, J16.0, J16.8, J17, J18, J85, Z87.01 —
[
  • 736 cases
  • , 18,137 controls
]
,
46.09 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004064 — —
[
  • 485 cases
  • , 6,012 controls
]
 — African unspecified — UKB —
PSS004065 — —
[
  • 112 cases
  • , 1,592 controls
]
 — East Asian — UKB —
PSS004066 — —
[
  • 2,487 cases
  • , 22,418 controls
]
 — European non-white British ancestry UKB —
PSS004067 — —
[
  • 1,025 cases
  • , 6,806 controls
]
 — South Asian — UKB —
PSS004068 — —
[
  • 8,119 cases
  • , 59,306 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS013185 003.22, 020.3, 020.4, 020.5, 021.2, 022.1, 031.0, 039.1, 052.1, 055.1, 073.0, 083.0, 112.4, 114.0, 114.4, 114.5, 130.4, 136.3, 480, 481, 482, 483, 484, 485, 486, 513, 517.1, V12.61,A02.22, A20.2, A21.2, A22.1, A31.0, A37.01, A37.11, A37.81, A37.91, A42.0, A43.0, A48.1, A75, A78, B01.2, B05.2, B25.0, B37.1, B38.0, B38.1, B38.2, B44.0, B58.3, B59, B77.81, J12, J13, J14, J15.0, J15.1, J15.2, J15.3, J15.4, J15.5, J15.6, J15.7, J15.8, J15.9, J16.0, J16.8, J17, J18, J85, Z87.01 —
[
  • 736 cases
  • , 18,137 controls
]
,
46.09 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013186 003.22, 020.3, 020.4, 020.5, 021.2, 022.1, 031.0, 039.1, 052.1, 055.1, 073.0, 083.0, 112.4, 114.0, 114.4, 114.5, 130.4, 136.3, 480, 481, 482, 483, 484, 485, 486, 513, 517.1, V12.61,A02.22, A20.2, A21.2, A22.1, A31.0, A37.01, A37.11, A37.81, A37.91, A42.0, A43.0, A48.1, A75, A78, B01.2, B05.2, B25.0, B37.1, B38.0, B38.1, B38.2, B44.0, B58.3, B59, B77.81, J12, J13, J14, J15.0, J15.1, J15.2, J15.3, J15.4, J15.5, J15.6, J15.7, J15.8, J15.9, J16.0, J16.8, J17, J18, J85, Z87.01 —
[
  • 736 cases
  • , 18,137 controls
]
,
46.09 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013162 032.0, 032.1, 032.2, 032.3, 034.0, 460, 462, 464, 465,A36.0, A36.1, A36.2, J00, J02, J03.0, J04, J05.1, J06 —
[
  • 1,534 cases
  • , 17,126 controls
]
,
46.38 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013163 032.0, 032.1, 032.2, 032.3, 034.0, 460, 462, 464, 465,A36.0, A36.1, A36.2, J00, J02, J03.0, J04, J05.1, J06 —
[
  • 1,534 cases
  • , 17,126 controls
]
,
46.38 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013164 032.0, 032.1, 032.2, 032.3, 034.0, 460, 462, 464, 465,A36.0, A36.1, A36.2, J00, J02, J03.0, J04, J05.1, J06 —
[
  • 1,534 cases
  • , 17,126 controls
]
,
46.38 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013165 032.0, 032.1, 032.2, 032.3, 034.0, 460, 462, 464, 465,A36.0, A36.1, A36.2, J00, J02, J03.0, J04, J05.1, J06 —
[
  • 1,534 cases
  • , 17,126 controls
]
,
46.38 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013166 032.0, 032.1, 032.2, 032.3, 034.0, 460, 462, 464, 465,A36.0, A36.1, A36.2, J00, J02, J03.0, J04, J05.1, J06 —
[
  • 1,534 cases
  • , 17,126 controls
]
,
46.38 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —