%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