Trait: spondyloarthropathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000706
Description A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. [NCIT: C116778]
Trait category
Immune system disorder
Synonyms 24 synonyms
  • Disorder of joint of spine
  • Disorder of joint of spine (disorder)
  • JOINT DIS NOS-OTH JT
  • OA - Osteoarthritis of spine
  • OA - Osteoarthritis of the spine
  • Osteoarthritis of spine
  • SPONDYLOS NOS W/O MYELOP
  • Spondarthropathy
  • Spondylarthropathies
  • Spondylarthropathy
  • Spondylarthrosis
  • Spondylarthrosis NOS
  • Spondylarthrosis, NOS
  • Spondyloarthropathy (disorder)
  • Spondylosis
  • Spondylosis (disorder)
  • Spondylosis of unspecified site without mention of myelopathy
  • Spondylosis, NOS
  • Unspecified joint disorder of other specified sites
  • seronegative spondyloarthropathy
  • spondarthropathy
  • spondylarthrosis
  • spondyloarthritis
  • spondyloarthropathy
Mapped term(s) 10 mapped terms
  • DOID:1123
  • GARD:0004971
  • ICD10:M47
  • MONDO:0005095
  • MSH:D025242
  • MSH:D055009
  • NCIT:C116778
  • OMIM:106300
  • SNOMEDCT:372109003
  • SNOMEDCT:8847002

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000197 G-PROB_SpA PGP000081
Knevel R et al. Sci Transl Med (2020)
Spondyloarthroparthy 250 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000197/ScoringFiles/PGS000197.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000580 PGS000197 (G-PROB_SpA) PSS000317 PGP000081
Knevel R et al. (2020)
Reported Trait: Spondyloarthropathy diagnosis in patient with arthritis AUROC: 0.56[0.33, 0.84] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000574 PGS000197 (G-PROB_SpA) PSS000316 PGP000081
Knevel R et al. (2020)
Reported Trait: Spondyloarthropathy diagnosis in patient with arthritis AUROC: 0.87[0.76, 0.96] (Setting II: Assigning patient diagnoses based on medical records)
PPM000568 PGS000197 (G-PROB_SpA) PSS000323 PGP000081
Knevel R et al. (2020)
Reported Trait: Spondyloarthropathy diagnosis in patient with arthritis AUROC: 0.58[0.5, 0.67] (Setting I: Assigning patient diagnoses based on billing codes)

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000323 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 65 cases
  • , 1,146 controls
]
,
43.0 % Male samples
Other Primarily European, African and Asian ancestry eMERGE
PSS000316 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 31 cases
  • , 214 controls
]
,
32.0 % Male samples
European PHCB
PSS000317 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 8 cases
  • , 235 controls
]
,
32.0 % Male samples
European PHCB