PGS Catalog - Yang Z, Blood (2023) (Publication)

PGS Publication: PGP000563

Publication Information (EuropePMC)
Title	Genetic Basis of Altered Platelet Counts and Gestational Thrombocytopenia in Pregnancy.
PubMed ID	38064665(Europe PMC)
doi	10.1182/blood.2023021925
Publication Date	Dec. 8, 2023
Journal	*Blood*
Author(s)	Yang Z, Hu L, Zhen J, Gu Y, Liu Y, Huang S, Wei Y, Zheng H, Guo X, Chen GB, Yang Y, Xiong L, Wei F, Liu S.

Released in PGS Catalog: Jan. 26, 2024

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score ID & Name	PGS Publication ID (PGP)	Reported Trait	Mapped Trait(s) (Ontology)	Number of Variants	Scoring File (FTP Link)
PGS004582 (PRSice_T1)	PGP000563 \| Yang Z et al. Blood (2023)	Platelet count during the first trimester	platelet count	407,667	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004582/ScoringFiles/PGS004582.txt.gz
PGS004584 (PRSice_T3)	PGP000563 \| Yang Z et al. Blood (2023)	Platelet count during the third trimester	platelet count	5,597	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004584/ScoringFiles/PGS004584.txt.gz
PGS004583 (PRSice_T2)	PGP000563 \| Yang Z et al. Blood (2023)	Platelet count during the second trimester	platelet count	104,759	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004583/ScoringFiles/PGS004583.txt.gz
PGS004585 (PRSice_GT)	PGP000563 \| Yang Z et al. Blood (2023)	Gestational thrombocytopenia	Thrombocytopenia	475,029	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004585/ScoringFiles/PGS004585.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
PPM020697	PGS004582 (PRSice_T1)	PSS011369\| East Asian Ancestry\| 818 individuals	PGP000563 \| Yang Z et al. Blood (2023)	Reported Trait: Gestational Thrombocytopenia	—	AUROC: 0.617	R²: 0.02	—	—
PPM020698	PGS004583 (PRSice_T2)	PSS011370\| East Asian Ancestry\| 878 individuals	PGP000563 \| Yang Z et al. Blood (2023)	Reported Trait: Gestational Thrombocytopenia	—	AUROC: 0.637	R²: 0.035	—	—
PPM020699	PGS004584 (PRSice_T3)	PSS011371\| East Asian Ancestry\| 615 individuals	PGP000563 \| Yang Z et al. Blood (2023)	Reported Trait: Gestational Thrombocytopenia	—	AUROC: 0.637	R²: 0.057	—	—
PPM020700	PGS004585 (PRSice_GT)	PSS011368\| East Asian Ancestry\| 936 individuals	PGP000563 \| Yang Z et al. Blood (2023)	Reported Trait: Gestational Thrombocytopenia	—	AUROC: 0.636	R²: 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.	—	936 individuals [ 97 cases , 839 controls ] , 0.0 % Male samples	—	East Asian (Chinese)	—	NIPT PLUS	5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.
PSS011369	Pregnancy with at least one platelet count measurements in each trimester during pregnancy. If multiple platelet count measurements were available, the earilest platelet count measurements within each trimester was chosen.	—	818 individuals, 0.0 % Male samples	—	East Asian (Chinese)	—	NIPT PLUS	5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.
PSS011370	Pregnancy with at least one platelet count measurements in each trimester during pregnancy. If multiple platelet count measurements were available, the earilest platelet count measurements within each trimester was chosen.	—	878 individuals, 0.0 % Male samples	—	East Asian (Chinese)	—	NIPT PLUS	5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.
PSS011371	Pregnancy with at least one platelet count measurements in each trimester during pregnancy. If multiple platelet count measurements were available, the earilest platelet count measurements within each trimester was chosen.	—	615 individuals, 0.0 % Male samples	—	East Asian (Chinese)	—	NIPT PLUS	5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.