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- W3009622319 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." @default.
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- W3009622319 date "2020-02-29" @default.
- W3009622319 modified "2023-10-13" @default.
- W3009622319 title "Identification of a new genetic variant associated with cholecystitis: A multicenter genome-wide association study" @default.
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- W3009622319 doi "https://doi.org/10.1097/ta.0000000000002647" @default.
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