PGS Catalog - PGS002232 / Stool Frequency (Polygenic Score)

Polygenic Score (PGS) ID: PGS002232

Predicted Trait
Reported Trait	Stool Frequency
Mapped Trait(s)	bowel opening frequency (EFO_0600084)

Released in PGS Catalog: Dec. 10, 2021

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Score Details

Score Construction
PGS Name	STLFRQPGS
Development Method
Name	PRSice
Parameters	NR
Variants
Original Genome Build	hg19
Number of Variants	263,279
Effect Weight Type	beta

PGS Source
PGS Catalog Publication (PGP) ID	PGP000265
Citation (link to publication)	Bonfiglio F et al. Cell Genom (2021)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 100% 167,875 individuals (100%)
Score Development/Training	European: 100% 163,616 individuals (100%)
PGS Evaluation	European: 100% 1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)

Study Identifiers	Sample Numbers	Sample Ancestry	Cohort(s)
GWAS Catalog: GCST90002250	167,875 individuals	European	FGFP, GFG, LifeLines, PopCol, UKB

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
—	163,616 individuals, 43.4 % Male samples	European	UKB	IBS based on Rome Criteria and data from UKBB individuals who filled the digestive health questionnaire (DHQ+)	Mean = 56.0 years Sd = 7.7 years	—	—	Overlaps with GWAS cohort, but PGS is tested on a different phenotype (IBS)

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
PPM012702	PSS009498\| European Ancestry\| 291,496 individuals	PGP000265 \| Bonfiglio F et al. Cell Genom (2021)	Reported Trait: Irritable bowel syndrome	—	—	p-value (PGS difference between cases and controls): 1.90e-08 Odds Ratio (OR, top 1%): 1.3 [1.1, 1.5]	sex, age, the first 10 PCs and genotyping array	—

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
PSS009498	IBS based on health records (self-reported and ICD10 diagnoses) and data from the remainder of UKBB (DHQ-)	—	291,496 individuals, 47.1 % Male samples	Mean = 57.2 years Sd = 8.2 years	European	—	UKB	Non-overlaping Validation cohort (DHQ-)