PGS Publication: PGP000133

Publication Information (EuropePMC)
Title Prevalence and Effect of Genetic Risk of Thromboembolic Disease in Inflammatory Bowel Disease.
PubMed ID 33098885(Europe PMC)
doi 10.1053/j.gastro.2020.10.019
Publication Date Oct. 21, 2020
Journal Gastroenterology
Author(s) Naito T, Botwin GJ, Haritunians T, Li D, Yang S, Khrom M, Braun J, NIDDK IBD Genetics Consortium, Abbou L, Mengesha E, Stevens C, Masamune A, Daly M, McGovern DPB.
Released in PGS Catalog: Feb. 3, 2021

Associated Polygenic Score(s)

External PGS Evaluated By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000043 PRS_VTE PGP000030 Klarin D et al. Nat Genet (2019) Venous thromboembolism venous thromboembolism 297 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000043/ScoringFiles/PGS000043.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001639 PGS000043
(PRS_VTE)
PSS000850 PGP000133 Naito T et al. (2020) Ext. Reported Trait: Thromboembolic disease event in individuals with inflammatory bowel disease Odds Ratio (OR, top 5% vs. remaining 95%): 2.7 [1.03, 7.09] Age at last visit, PCs(1-2) Included 265/297 variants from the original score
PPM001640 PGS000043
(PRS_VTE)
PSS000850 PGP000133 Naito T et al. (2020) Ext. Reported Trait: Thromboembolic disease event in individuals with inflammatory bowel disease Odds Ratio (OR, top 5% vs. remaining 95%): 3.13 [1.37, 7.18] Disease duration, age at disease onset, PCs(1-2) Included 265/297 variants from the original score
PPM001641 PGS000043
(PRS_VTE)
PSS000850 PGP000133 Naito T et al. (2020) Ext. Reported Trait: Thromboembolic disease event in in individuals of inflammatory bowel disease that are carriers of at least 1 thrombophillia pathogenic variant Odds Ratio (OR, top 5% vs. remaining 95%): 8.56 [1.76, 41.57] Age at last visit, PCs(1-2) Included 265/297 variants from the original score

Evaluated Samples

PGS Sample Set ID
(PSS 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
PSS000850 All individuals had inflammatory bowel disease, defined on the basis of clinical symptoms as well as standard endoscopic, radiographic and histologic findings. Cases are individuals with a thromboembolic disease (TED) event. Disease activity at the time of TED for Chron's disease was measured by the Harvey-Bradshaw Index and colonoscopy report at the time of clotting event (when available). Patients were considered to have active disease if they had Harvey-Bradshaw Index scores !5 and/or endoscopy showed active disease, Disease activity at the time of TED for Ulcerative Colitis was evaluated by the full Mayo score. A full Mayo score >2 was considered as active disease.
[
  • 63 cases
  • , 652 controls
]
,
53.3 % Male samples
European CSMC