Polygenic Score (PGS) ID: PGS000194

Predicted Trait
Reported Trait Rheumatoid Arthritis (CCP-positive)
Mapped Trait(s) ACPA-positive rheumatoid arthritis (EFO_0009459)
Released in PGS Catalog: June 3, 2020
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Score Details

Score Construction
PGS Name G-PROB_Rapos
Variants
Original Genome Build GRCh38
Number of Variants 250
Development Method
Name Pruning and Thresholding (P+T)
Parameters SNPs with genome-wide significance (p<5e-8) from Immunobase, and LD pruning (r^2>0.8), and HLA variants incorporated in a probabilistic model that take into account predefined (sex specific) disease prevalence, and assuming a patient has one of the 5 possible arthritic diseases. See papers for detailed calculation of Gprob, and OR/weight shrinkage.
PGS Source
PGS Catalog Publication (PGP) ID PGP000081
Citation (link to publication) Knevel R et al. Sci Transl Med (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 88.2%
East Asian: 11.8%
191,461 individuals (100%)
PGS Evaluation
European: 66.7%
Multi-ancestry (including European): 33.3%
  • European
  • African
  • Additional Asian Ancestries
  • Not Reported
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002318
Europe PMC: 24390342
58,284 individuals European
GWAS Catalog: GCST002318
Europe PMC: 24390342
22,515 individuals East Asian
GWAS Catalog: GCST005569
Europe PMC: 23143596
47,580 individuals European
GWAS Catalog: GCST000040
Europe PMC: 17554300
4,798 individuals European
GWAS Catalog: GCST000679
Europe PMC: 20453842
25,708 individuals European
Europe PMC: 26053495
[
  • 3,870 cases
  • , 12,370 controls
]
European
Europe PMC: 24656864
[
  • 2,406 cases
  • , 13,930 controls
]
European

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)
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
PPM000577 PSS000315|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.63, 0.76] RAN_Gprob (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000571 PSS000314|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.75 [0.68, 0.81] G-PROB_Raneg (Setting II: Assigning patient diagnoses based on medical records)
PPM000565 PSS000322|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.65, 0.72] G-PROB_Raneg (Setting I: Assigning patient diagnoses based on billing codes)

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
PSS000314 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
[
  • 90 cases
  • , 155 controls
]
,
32.0 % Male samples
European PHB
PSS000315 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
[
  • 115 cases
  • , 128 controls
]
,
32.0 % Male samples
European PHB
PSS000322 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
[
  • 574 cases
  • , 637 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE