Trait: multiple sclerosis

Trait Information
Identifier MONDO_0005301
Description A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. [NCIT: P378]
Trait categories
Immune system disorder
Neurological disorder
Mapped terms 9 mapped terms
  • DOID:2377
  • EFO:0003885
  • ICD10CM:G35
  • ICD9:340
  • MESH:D009103
  • NCIT:C3243
  • Orphanet:802
  • SCTID:24700007
  • UMLS:C0026769

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000809
(PRS127_MS)
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Multiple sclerosis multiple sclerosis 127
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000809/ScoringFiles/PGS000809.txt.gz
PGS001270
(GBE_HC151)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Multiple sclerosis multiple sclerosis 41
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001270/ScoringFiles/PGS001270.txt.gz
PGS001271
(GBE_HC810)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Multiple sclerosis (time-to-event) multiple sclerosis 36
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001271/ScoringFiles/PGS001271.txt.gz
PGS001831
(portability-PLR_335)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Multiple sclerosis multiple sclerosis 491
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001831/ScoringFiles/PGS001831.txt.gz
PGS002038
(portability-ldpred2_335)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Multiple sclerosis multiple sclerosis 129,077
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002038/ScoringFiles/PGS002038.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
PPM002137 PGS000809
(PRS127_MS)
PSS001050|
European Ancestry|
725 individuals
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Reported Trait: Multiple sclerosis β: 0.6 AUROC: 0.705 (0.029) : 0.07 Age, sex, PCs(1-2)
PPM002138 PGS000809
(PRS127_MS)
PSS001051|
European Ancestry|
656 individuals
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Reported Trait: Multiple sclerosis β: 0.59 AUROC: 0.762 (0.055) : 0.075 Age, sex, PCs(1-2)
PPM002139 PGS000809
(PRS127_MS)
PSS001049|
European Ancestry|
8,370 individuals
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Reported Trait: Multiple Sclerosis β: 0.63 AUROC: 0.765 (0.042) : 0.069 Age, sex, PCs(1-2)
PPM008850 PGS001270
(GBE_HC151)
PSS004273|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Multiple sclerosis AUROC: 0.78603 [0.68344, 0.88862] : 0.07124
Incremental AUROC (full-covars): -0.04449
PGS R2 (no covariates): 0.02639
PGS AUROC (no covariates): 0.35945 [0.2174, 0.5015]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008851 PGS001270
(GBE_HC151)
PSS004274|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Multiple sclerosis AUROC: 0.65766 [0.60651, 0.7088] : 0.02306
Incremental AUROC (full-covars): 0.0559
PGS R2 (no covariates): 0.01225
PGS AUROC (no covariates): 0.61627 [0.56233, 0.67022]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008852 PGS001270
(GBE_HC151)
PSS004275|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Multiple sclerosis AUROC: 0.9739 [0.9358, 1.0] : 0.3229
Incremental AUROC (full-covars): 0.01955
PGS R2 (no covariates): 0.02901
PGS AUROC (no covariates): 0.64875 [0.24603, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008853 PGS001270
(GBE_HC151)
PSS004276|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Multiple sclerosis AUROC: 0.69658 [0.66502, 0.72814] : 0.04105
Incremental AUROC (full-covars): 0.08355
PGS R2 (no covariates): 0.02904
PGS AUROC (no covariates): 0.65856 [0.62428, 0.69284]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008854 PGS001271
(GBE_HC810)
PSS004637|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE multiple sclerosis AUROC: 0.8033 [0.6935, 0.91311] PGS R2 (no covariates): 0.01095
: 0.10788
Incremental AUROC (full-covars): -0.03509
PGS AUROC (no covariates): 0.39974 [0.23738, 0.56211]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008855 PGS001271
(GBE_HC810)
PSS004639|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE multiple sclerosis AUROC: 0.65561 [0.60622, 0.705] : 0.02347
Incremental AUROC (full-covars): 0.05454
PGS R2 (no covariates): 0.01258
PGS AUROC (no covariates): 0.61601 [0.56326, 0.66875]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008856 PGS001271
(GBE_HC810)
PSS004640|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE multiple sclerosis AUROC: 0.97595 [0.94159, 1.0] : 0.33555
Incremental AUROC (full-covars): 0.01648
PGS R2 (no covariates): 0.01091
PGS AUROC (no covariates): 0.55629 [0.19512, 0.91745]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008857 PGS001271
(GBE_HC810)
PSS004641|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE multiple sclerosis AUROC: 0.6895 [0.65926, 0.71974] : 0.03906
Incremental AUROC (full-covars): 0.07145
PGS R2 (no covariates): 0.02562
PGS AUROC (no covariates): 0.64688 [0.61364, 0.68013]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009541 PGS001831
(portability-PLR_335)
PSS009301|
European Ancestry|
19,299 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0367 [0.0226, 0.0508] sex, age, birth date, deprivation index, 16 PCs
PPM009542 PGS001831
(portability-PLR_335)
PSS009075|
European Ancestry|
4,011 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0122 [-0.0188, 0.0432] sex, age, birth date, deprivation index, 16 PCs
PPM009543 PGS001831
(portability-PLR_335)
PSS008629|
European Ancestry|
6,463 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0578 [0.0334, 0.0821] sex, age, birth date, deprivation index, 16 PCs
PPM009544 PGS001831
(portability-PLR_335)
PSS008403|
Greater Middle Eastern Ancestry|
1,164 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0242 [-0.0338, 0.082] sex, age, birth date, deprivation index, 16 PCs
PPM009545 PGS001831
(portability-PLR_335)
PSS008183|
South Asian Ancestry|
6,094 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0064 [-0.0188, 0.0315] sex, age, birth date, deprivation index, 16 PCs
PPM009546 PGS001831
(portability-PLR_335)
PSS007749|
African Ancestry|
2,390 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0032 [-0.037, 0.0435] sex, age, birth date, deprivation index, 16 PCs
PPM009547 PGS001831
(portability-PLR_335)
PSS008853|
African Ancestry|
3,790 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): -0.0104 [-0.0423, 0.0216] sex, age, birth date, deprivation index, 16 PCs
PPM011172 PGS002038
(portability-ldpred2_335)
PSS009075|
European Ancestry|
4,011 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0083 [-0.0228, 0.0393] sex, age, birth date, deprivation index, 16 PCs
PPM011173 PGS002038
(portability-ldpred2_335)
PSS008629|
European Ancestry|
6,463 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0447 [0.0203, 0.069] sex, age, birth date, deprivation index, 16 PCs
PPM011174 PGS002038
(portability-ldpred2_335)
PSS008403|
Greater Middle Eastern Ancestry|
1,164 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0296 [-0.0284, 0.0874] sex, age, birth date, deprivation index, 16 PCs
PPM011175 PGS002038
(portability-ldpred2_335)
PSS008183|
South Asian Ancestry|
6,094 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0149 [-0.0103, 0.04] sex, age, birth date, deprivation index, 16 PCs
PPM011176 PGS002038
(portability-ldpred2_335)
PSS007749|
African Ancestry|
2,390 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.006 [-0.0343, 0.0463] sex, age, birth date, deprivation index, 16 PCs
PPM011177 PGS002038
(portability-ldpred2_335)
PSS008853|
African Ancestry|
3,790 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): -0.0243 [-0.0561, 0.0077] sex, age, birth date, deprivation index, 16 PCs
PPM011171 PGS002038
(portability-ldpred2_335)
PSS009301|
European Ancestry|
19,299 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Multiple sclerosis Partial Correlation (partial-r): 0.0396 [0.0255, 0.0536] sex, age, birth date, deprivation index, 16 PCs

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
PSS004637
[
  • 12 cases
  • , 6,485 controls
]
African unspecified UKB
PSS007749 2,390 individuals African American or Afro-Caribbean Carribean UKB
PSS004639
[
  • 115 cases
  • , 24,790 controls
]
European non-white British ancestry UKB
PSS004640
[
  • 5 cases
  • , 7,826 controls
]
South Asian UKB
PSS004641
[
  • 302 cases
  • , 67,123 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS009075 4,011 individuals European Poland (NE Europe) UKB
PSS008403 1,164 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009301 19,299 individuals European UK (+ Ireland) UKB
PSS008629 6,463 individuals European Italy (South Europe) UKB
PSS001049 Cases are individuals with multiple sclerosis.
[
  • 29 cases
  • , 8,341 controls
]
European Mainland Scotland GS:SFHS
PSS001050 Cases are individuals with multiple sclerosis.
[
  • 80 cases
  • , 645 controls
]
European Orkney ORCADES
PSS004273
[
  • 11 cases
  • , 6,486 controls
]
African unspecified UKB
PSS001051 Cases are individuals with multiple sclerosis.
[
  • 14 cases
  • , 642 controls
]
European Shetlands VIKING
PSS004274
[
  • 107 cases
  • , 24,798 controls
]
European non-white British ancestry UKB
PSS004276
[
  • 277 cases
  • , 67,148 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008183 6,094 individuals South Asian India (South Asia) UKB
PSS008853 3,790 individuals African unspecified Nigeria (West Africa) UKB
PSS004275
[
  • 4 cases
  • , 7,827 controls
]
South Asian UKB