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Rigshospitalet - a part of Copenhagen University Hospital
E-pub ahead of print

Identification of a new genetic variant associated with cholecystitis: a multicenter genome-wide association study

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  • Alexander Bonde
  • Apostolos Gaitanidis
  • Kerry Breen
  • Majed El Hechi
  • Charlie Nederpelt
  • Mathias Christensen
  • Nikolaos Kokoroskos
  • April Mendoza
  • George Velmahos
  • Martin Sillesen
  • Maha R Farhat
  • Haytham M A Kaafarani
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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.

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). 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.Prognostic and Epidemiological LEVEL OF EVIDENCE: Level III, case-control study.

Original languageEnglish
JournalThe journal of trauma and acute care surgery
ISSN2163-0755
DOIs
Publication statusE-pub ahead of print - 28 Feb 2020

ID: 59553146