%0 Journal Article
%J Journal of Trauma and Acute Care Surgery
%D 2020
%T Identification of a new genetic variant associated with cholecystitis: a multicenter genome-wide association study
%A Gaitanidis A
%A Bonde A
%A Mendosa A
%A Sillesen MH
%A El Hechi M
%A Velmahos G
%A Kaafarani H
%A MR, Farhat
%X
Background
The genomic landscape of gallbladder disease remains poorly understood. We sought to examine the association between genetic variants and the development of cholecystitis.Methods
The Biobank of a large multi-institutional healthcare system was utilized. All patients with cholecystitis were identified using ICD-10 codes and genotyped across 6 batches. To control for population stratification, data was restricted to that from individuals of European genomic ancestry using a multidimensional scaling (MDS) approach. The association between single nucleotide polymorphisms (SNPs) and cholecystitis was evaluated with a mixed linear model-based analysis, controlling for age, sex and obesity. The threshold for significance was set at 5 × 10-8.Results
Out of 24,635 patients (mean age 60.1 ± 16.7 years, 13,022 [52.9%] females), 900 had cholecystitis (mean age 65.4 ± 14.3 years, 496 [55.1%] females). After meta-analysis, 3 SNPs on chromosome 5p15 exceeded the threshold for significance (p < 5 × 10-8). The phenotypic variance of cholecystitis explained by genetics and controlling for gender and obesity was estimated to be 17.9%.Conclusions
Using a multi-institutional genomic Biobank, we report a region on chromosome 5p15 is associated with the development of cholecystitis that can be used to identify patients at risk.Study type
Prognostic and Epidemiological
Level of Evidence
Level III, case-control study
%B Journal of Trauma and Acute Care Surgery
%G eng
%U https://journals.lww.com/jtrauma/Abstract/publishahead/Identification_of_a_new_genetic_variant_associated.98011.aspx