Trait: Sjogren syndrome

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000699
Description An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain
Trait categories
Digestive system disorder
Immune system disorder
Synonyms 18 synonyms
  • Mikulicz disease
  • SJOGREN'S SYNDROME
  • Sicca (Sjogren's) syndrome
  • Sicca syndrome
  • Sicca syndrome (disorder)
  • Sjgren's syndrome (disorder)
  • Sjogren syndrome
  • Sjogren's disease
  • Sjogren's syndrome (disorder)
  • Sjogrens Syndrome
  • Sjögren syndrome
  • Syndrome, Sicca
  • Syndrome, Sjogren's
  • primary Sjogren-Gougerot syndrome
  • primary Sjögren-Gougerot syndrome
  • sicca syndrome
  • syndrome, Sjogren's
  • xerodermosteosis
Mapped terms 14 mapped terms
  • DOID:12894
  • DOID:12900
  • GARD:0010252
  • ICD10:M35.0
  • ICD10:M35.00
  • ICD9:710.2
  • MESH:D012859
  • MONDO:0010030
  • MeSH:D012859
  • NCIT:C26883
  • NCIt:C26883
  • OMIM:270150
  • Orphanet:289390
  • SCTID:83901003

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)
PGS001308
(GBE_HC321)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Sjogren's syndrome/sicca syndrome Sjogren syndrome 7
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001308/ScoringFiles/PGS001308.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
PPM009034 PGS001308
(GBE_HC321)
PSS004437|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sjogren's syndrome/sicca syndrome AUROC: 0.79846 [0.71474, 0.88218] : 0.07345
Incremental AUROC (full-covars): 0.0079
PGS R2 (no covariates): 0.01471
PGS AUROC (no covariates): 0.59027 [0.45551, 0.72504]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009035 PGS001308
(GBE_HC321)
PSS004438|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sjogren's syndrome/sicca syndrome AUROC: 0.75824 [0.55089, 0.96558] : 0.05686
Incremental AUROC (full-covars): 0.00691
PGS R2 (no covariates): 0.0091
PGS AUROC (no covariates): 0.69794 [0.63241, 0.76347]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009036 PGS001308
(GBE_HC321)
PSS004439|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sjogren's syndrome/sicca syndrome AUROC: 0.77174 [0.71988, 0.82361] : 0.07435
Incremental AUROC (full-covars): 0.01461
PGS R2 (no covariates): 0.01453
PGS AUROC (no covariates): 0.65693 [0.58901, 0.72485]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009037 PGS001308
(GBE_HC321)
PSS004440|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sjogren's syndrome/sicca syndrome AUROC: 0.8014 [0.74455, 0.85826] : 0.08893
Incremental AUROC (full-covars): 0.00953
PGS R2 (no covariates): 0.03189
PGS AUROC (no covariates): 0.61034 [0.48809, 0.73259]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009038 PGS001308
(GBE_HC321)
PSS004441|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sjogren's syndrome/sicca syndrome AUROC: 0.73313 [0.69647, 0.76978] : 0.04771
Incremental AUROC (full-covars): 0.01551
PGS R2 (no covariates): 0.01074
PGS AUROC (no covariates): 0.60303 [0.55292, 0.65315]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004437
[
  • 17 cases
  • , 6,480 controls
]
African unspecified UKB
PSS004438
[
  • 4 cases
  • , 1,700 controls
]
East Asian UKB
PSS004439
[
  • 58 cases
  • , 24,847 controls
]
European non-white British ancestry UKB
PSS004440
[
  • 29 cases
  • , 7,802 controls
]
South Asian UKB
PSS004441
[
  • 135 cases
  • , 67,290 controls
]
European white British ancestry UKB Testing cohort (heldout set)