PGS Publication: PGP000265

Publication Information (EuropePMC)
Title GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome.
PubMed ID 34957435(Europe PMC)
doi 10.1016/j.xgen.2021.100069
Publication Date Dec. 8, 2021
Journal Cell Genom
Author(s) Bonfiglio F, Liu X, Smillie C, Pandit A, Kurilshikov A, Bacigalupe R, Zheng T, Nim H, Garcia-Etxebarria K, Bujanda L, Andreasson A, Agreus L, SusannaWalter, Abecasis G, Eijsbouts C, Jostins L, Parkes M, Hughes DA, Timpson N, Raes J, Franke A, Kennedy NA, Regev A, Zhernakova A, Simren M, Camilleri M, D’Amato M
Released in PGS Catalog: Dec. 10, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000265 |
Bonfiglio F et al. Cell Genom (2021)
Stool Frequency bowel opening frequency 263,279

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM012702 PGS002232
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
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-)