Trait: CNS demyelinating autoimmune disease

Trait Information
Identifier MONDO_0006704
Description Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens. [MESH: D020278]
Trait categories
Immune system disorder
Other disease
Child trait(s) multiple sclerosis

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 PGS for child terms of "CNS demyelinating autoimmune disease" in the EFO hierarchy.
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)
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
PGS002726
(PGS_MS_Brain)
 PGP000334 |
Shams H et al. Brain (2022)
 Multiple sclerosis multiple sclerosis 476,399
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002726/ScoringFiles/PGS002726.txt.gz
PGS004699
(Non-HLA-GRS)
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Multiple sclerosis multiple sclerosis 307
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004699/ScoringFiles/PGS004699.txt.gz
PGS004700
(HLA-GRS)
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Multiple sclerosis multiple sclerosis 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004700/ScoringFiles/PGS004700.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) R²: 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) R²: 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) R²: 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] R²: 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] R²: 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] R²: 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] R²: 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
R²: 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] R²: 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] R²: 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] R²: 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 —
PPM014749 PGS002726
(PGS_MS_Brain)
 PSS009883|
European Ancestry|
253,419 individuals
 PGP000334 |
Shams H et al. Brain (2022)
 Reported Trait: Multiple sclerosis — AUROC: 0.73 [0.72, 0.74] Odds ratio (OR, top 10% vs median): 5.3 [4.7, 6.0] — —
PPM014750 PGS002726
(PGS_MS_Brain)
 PSS009882|
European Ancestry|
938 individuals
 PGP000334 |
Shams H et al. Brain (2022)
 Reported Trait: Multiple sclerosis — AUROC: 0.8 [0.76, 0.82] Odds ratio (OR, top 10% vs median): 15.0 [10.4, 24.0] — —
PPM020918 PGS004699
(Non-HLA-GRS)
 PSS011453|
Multi-ancestry (including European)|
483,480 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis — AUROC: 0.752 [0.75, 0.755] — Age at recruitment, sex, Townsend Deprivation Index, 4 PCs NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020919 PGS004699
(Non-HLA-GRS)
 PSS011452|
Multi-ancestry (including European)|
116,767 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis — AUROC: 0.744 — Index age, reported sex, 4 PCs NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020920 PGS004699
(Non-HLA-GRS)
 PSS011451|
Ancestry Not Reported|
372,416 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis — AUROC: 0.764 — Age at DNA sample collection, sex, 4 PCs NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020921 PGS004699
(Non-HLA-GRS)
 PSS011454|
Multi-ancestry (including European)|
545 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis in individuals with undifferentiated optic neuritis HR: 1.29 [1.07, 1.55] — — Age, sex NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020922 PGS004700
(HLA-GRS)
 PSS011453|
Multi-ancestry (including European)|
483,480 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis — AUROC: 0.752 [0.75, 0.755] — Age at recruitment, sex, Townsend Deprivation Index, 4 PCs NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020923 PGS004700
(HLA-GRS)
 PSS011452|
Multi-ancestry (including European)|
116,767 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis — AUROC: 0.744 — Index age, reported sex, 4 PCs NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020924 PGS004700
(HLA-GRS)
 PSS011451|
Ancestry Not Reported|
372,416 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis — AUROC: 0.764 — Age at DNA sample collection, sex, 4 PCs NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS
PPM020925 PGS004700
(HLA-GRS)
 PSS011454|
Multi-ancestry (including European)|
545 individuals
 PGP000603 |
Loginovic P et al. Nat Commun (2024)
 Reported Trait: Multiple sclerosis in individuals with undifferentiated optic neuritis HR: 1.29 [1.07, 1.55] — — Age, sex NOTE: Performance is based on an unweighted sum of Non-HLA-GRS and HLA-GRS

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
PSS007749 — — 2,390 individuals — African American or Afro-Caribbean Carribean 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 —
PSS009075 — — 4,011 individuals — European Poland (NE Europe) UKB —
PSS008183 — — 6,094 individuals — South Asian India (South Asia) UKB —
PSS011451 — —
[
  • 1,806 cases
  • , 370,610 controls
]
 — Not reported — FinnGen —
PSS011452 — —
[
  • 1,903 cases
  • , 97,320 controls
]
 — European — MyCode —
PSS011452 — —
[
  • 278 cases
  • , 17,266 controls
]
 — Not reported — MyCode —
PSS011453 — —
[
  • 1,966 cases
  • , 403,513 controls
]
 — European — UKB —
PSS011453 — —
[
  • 279 cases
  • , 77,722 controls
]
 — Not reported — UKB —
PSS011454 — — 462 individuals — European — UKB —
PSS011454 — — 83 individuals — Not reported — UKB —
PSS009882 — —
[
  • 433 cases
  • , 505 controls
]
 — European — KP —
PSS009883 — —
[
  • 1,354 cases
  • , 252,065 controls
]
 — European — UKB —
PSS008853 — — 3,790 individuals — African unspecified Nigeria (West Africa) 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 —
PSS001051 Cases are individuals with multiple sclerosis. —
[
  • 14 cases
  • , 642 controls
]
 — European Shetlands VIKING —
PSS004637 — —
[
  • 12 cases
  • , 6,485 controls
]
 — African unspecified — 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)
PSS008629 — — 6,463 individuals — European Italy (South Europe) UKB —
PSS004273 — —
[
  • 11 cases
  • , 6,486 controls
]
 — African unspecified — UKB —
PSS004274 — —
[
  • 107 cases
  • , 24,798 controls
]
 — European non-white British ancestry UKB —
PSS004275 — —
[
  • 4 cases
  • , 7,827 controls
]
 — South Asian — UKB —
PSS004276 — —
[
  • 277 cases
  • , 67,148 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)