Polygenic Score (PGS) ID: PGS019642

Predicted Trait
Reported Trait Diffuse diseases of connective tissue
Mapped Trait(s) connective tissue disorder (MONDO_0003900)
Released in PGS Catalog: July 29, 2026
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Score Details

Score Construction
PGS Name TPMI_709_PRS-CS
Development Method
Name PRS-CS
Parameters phi1e-05
Variants
Original Genome Build GRCh38
Number of Variants 983,767
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000835
Citation (link to publication) Chen HH et al. Nature (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
311,710 individuals (100%)
Score Development/Training
East Asian: 100%
71,873 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
—
[
  • 11,366 cases
  • , 300,344 controls
]
,
44.97 % Male samples
 East Asian
(Han Chinese)		 TPMI
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 3,942 cases
  • , 67,931 controls
]
,
46.34 % Male samples
 East Asian
(Han Chinese)		 TPMI 710.2,M35.0 — — — —

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
PPM037824 PSS013555|
East Asian Ancestry|
18,400 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Diffuse diseases of connective tissue — AUROC: 0.78296 R²: 0.1846 sex, age, array, PCs 1-10 —

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
PSS013555 517.2, 710,M33, M34, M35.0, M35.1, M35.5, M35.8, M35.9, M36.0, M36.8 —
[
  • 1,420 cases
  • , 16,980 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —