Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort
Year: 2025
Type: article
Study design: Observational Study
Abstract: Diverticulitis is a common and morbid colorectal disease that recurs after an initial attack in up to 30% of patients. Elective surgery to remove the affected portion of the colon is an effective intervention to prevent disease recurrence, but appropriate patient selection is challenging given the limited ability to predict which patients are likely to recur, or the severity with which they may do so. Genetics influence diverticulitis and can be used for risk stratification, but this has only been studied in European ancestry populations. Using state-of-the-art techniques, we created a polygenic risk score that associates with diverticulitis prevalence and severity and is externally validated on meta-analysis in a diverse patient population across three different biobanks. This work represents the first published diverticulitis polygenic score to demonstrate utility in associating specifically with diverticulitis in non-European populations, and may provide the basis for clinical implementation in elective surgical decision-making.
Source: Scientific Reports
Institutions: University of Pennsylvania, Vanderbilt University, Donald & Barbara Zucker School of Medicine at Hofstra/Northwell, Vanderbilt University Medical Center, Geisinger Health System, Philadelphia VA Medical Center, Geisinger Medical Center, Geisinger College of Health Sciences, Hospital of the University of Pennsylvania, University of Pennsylvania Health System
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,690
Funders: U.S. Department of Veterans Affairs, American Heart Association, University of Pennsylvania, Institute for Translational Medicine and Therapeutics, Sarnoff Cardiovascular Research Foundation, National Institutes of Health, Perelman School of Medicine, University of Pennsylvania, National Institute of Diabetes and Digestive and Kidney Diseases, National Center for Advancing Translational Sciences
Awards: G12661278, G1554891411, G3457235877, G471519714, Genetic causes of thoracic aortic aneurysm and dissection, and modeling heritable risk, G7080534032, Genetic Determinants of Outcomes in Diverticular Disease, G9000011346, G9000074899, Molecular and Cellular Basis for Digestive Diseases, Institutional Clinical and Translational Science Award
OpenAlex ID: W4416764257