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

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Harvard

Bonde, A, Gaitanidis, A, Breen, K, El Hechi, M, Nederpelt, C, Christensen, M, Kokoroskos, N, Mendoza, A, Velmahos, G, Sillesen, M, Farhat, MR & Kaafarani, HMA 2020, 'Identification of a new genetic variant associated with cholecystitis: a multicenter genome-wide association study', The journal of trauma and acute care surgery, vol. 89, no. 1, pp. 173-178. https://doi.org/10.1097/TA.0000000000002647

APA

Bonde, A., Gaitanidis, A., Breen, K., El Hechi, M., Nederpelt, C., Christensen, M., Kokoroskos, N., Mendoza, A., Velmahos, G., Sillesen, M., Farhat, M. R., & Kaafarani, H. M. A. (2020). Identification of a new genetic variant associated with cholecystitis: a multicenter genome-wide association study. The journal of trauma and acute care surgery, 89(1), 173-178. https://doi.org/10.1097/TA.0000000000002647

CBE

MLA

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Author

Bonde, Alexander ; Gaitanidis, Apostolos ; Breen, Kerry ; El Hechi, Majed ; Nederpelt, Charlie ; Christensen, Mathias ; Kokoroskos, Nikolaos ; Mendoza, April ; Velmahos, George ; Sillesen, Martin ; Farhat, Maha R ; Kaafarani, Haytham M A. / Identification of a new genetic variant associated with cholecystitis : a multicenter genome-wide association study. In: The journal of trauma and acute care surgery. 2020 ; Vol. 89, No. 1. pp. 173-178.

Bibtex

@article{811add5a264747a79dbb8d93aec86a04,
title = "Identification of a new genetic variant associated with cholecystitis: a multicenter genome-wide association study",
abstract = "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 -8. 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 -8). 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.",
keywords = "Cholecystitis, cholelithiasis, mixed linear model, single nucleotide polymorphism",
author = "Alexander Bonde and Apostolos Gaitanidis and Kerry Breen and {El Hechi}, Majed and Charlie Nederpelt and Mathias Christensen and Nikolaos Kokoroskos and April Mendoza and George Velmahos and Martin Sillesen and Farhat, {Maha R} and Kaafarani, {Haytham M A}",
year = "2020",
month = jul,
day = "1",
doi = "10.1097/TA.0000000000002647",
language = "English",
volume = "89",
pages = "173--178",
journal = "Journal of Trauma and Acute Care Surgery",
issn = "2163-0755",
publisher = "Lippincott Williams & Wilkins",
number = "1",

}

RIS

TY - JOUR

T1 - Identification of a new genetic variant associated with cholecystitis

T2 - a multicenter genome-wide association study

AU - Bonde, Alexander

AU - Gaitanidis, Apostolos

AU - Breen, Kerry

AU - El Hechi, Majed

AU - Nederpelt, Charlie

AU - Christensen, Mathias

AU - Kokoroskos, Nikolaos

AU - Mendoza, April

AU - Velmahos, George

AU - Sillesen, Martin

AU - Farhat, Maha R

AU - Kaafarani, Haytham M A

PY - 2020/7/1

Y1 - 2020/7/1

N2 - 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 -8. 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 -8). 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.

AB - 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 -8. 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 -8). 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.

KW - Cholecystitis

KW - cholelithiasis

KW - mixed linear model

KW - single nucleotide polymorphism

U2 - 10.1097/TA.0000000000002647

DO - 10.1097/TA.0000000000002647

M3 - Journal article

C2 - 32118827

VL - 89

SP - 173

EP - 178

JO - Journal of Trauma and Acute Care Surgery

JF - Journal of Trauma and Acute Care Surgery

SN - 2163-0755

IS - 1

ER -

ID: 59553146