Polygenic Score (PGS) ID: PGS004585

Predicted Trait
Reported Trait Gestational thrombocytopenia
Mapped Trait(s) Thrombocytopenia (HP_0001873)
Released in PGS Catalog: Jan. 26, 2024
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Score Details

Score Construction
PGS Name PRSice_GT
Development Method
Name PRSice-2
Parameters clump r2 threshold: 0.2, clump-kb: 500kb, p-value threshold: 0.14
Variants
Original Genome Build GRCh38
Number of Variants 475,029
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000563
Citation (link to publication) Yang Z et al. Blood (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
96,432 individuals (100%)
Score Development/Training
East Asian: 100%
3,341 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)
GWAS Catalog: GCST90302234
[
  • 11,138 cases
  • , 85,294 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
SZ-MONN-NIPT
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
[
  • 344 cases
  • , 2,997 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
NIPT PLUS Pregnancy has at least one platelet count less than 150×109/L in the second or third trimester of pregnancy. Pregnancies complicated by preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count), primary immune thrombocytopenia, HIV infection, hepatitis B virus, and hepatitis C virus infection or with one or more platelet count less than 50×109/L during pregnancy were excluded. 5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.

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
PPM020700 PSS011368|
East Asian Ancestry|
936 individuals
PGP000563 |
Yang Z et al. Blood (2023)
Reported Trait: Gestational Thrombocytopenia AUROC: 0.636 : 0.04

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
PSS011368 Pregnancy has at least one platelet count less than 150×109/L in the second or third trimester of pregnancy. Pregnancies complicated by preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count), primary immune thrombocytopenia, HIV infection, hepatitis B virus, and hepatitis C virus infection or with one or more platelet count less than 50×109/L during pregnancy were excluded.
[
  • 97 cases
  • , 839 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
NIPT PLUS 5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.