Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. The Geriatric Nutritional Risk Index is a powerful predictor of adverse outcome in the elderly emergency surgery patient

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Most of the variation in length of stay in emergency general surgery is not related to clinical factors of patient care

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Tubastatin A prevents hemorrhage-induced endothelial barrier dysfunction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Red blood cell transfusion in surgery: an observational study of the trends in the USA from 2011 to 2016

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Contemporary management of penetrating renal trauma - A national analysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Bilateral internal iliac artery embolization for pelvic trauma: Effectiveness and safety

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Refugee Access to Surgical Care in Lebanon: A Post Hoc Analysis of the SCAR Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • 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
Vis graf over relationer

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 health care system was used. All patients with cholecystitis were identified using International Statistical Classification of Diseases, 10th Revision, codes and genotyped across six batches. To control for population stratification, data were restricted to that from individuals of European genomic ancestry using a multidimensional scaling approach. The association between single nucleotide polymorphisms 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: Of 24,635 patients (mean ± SD age, 60.1 ± 16.7 years; 13,022 females [52.9%]), 900 had cholecystitis (mean ± SD age, 65.4 ± 14.3 years; 496 females [55.1%]). After meta-analysis, three single nucleotide polymorphisms on chromosome 5p15 exceeded the threshold for significance (p < 5 × 10). The phenotypic variance of cholecystitis explained by genetics and controlling for sex and obesity was estimated to be 17.9%.

CONCLUSION: Using a multi-institutional genomic Biobank, we report that a region on chromosome 5p15 is associated with the development of cholecystitis that can be used to identify patients at risk.

LEVEL OF EVIDENCE: Prognostic and epidemiological, Level III.

OriginalsprogEngelsk
TidsskriftThe journal of trauma and acute care surgery
Vol/bind89
Udgave nummer1
Sider (fra-til)173-178
Antal sider6
ISSN2163-0755
DOI
StatusUdgivet - jul. 2020

ID: 59553146