Association Between NEDD4L Variation and the Genetic Risk of Acute Appendicitis: A Multi-institutional Genome-Wide Association Study.

ABSTRACT:

Importance

The familial aspect of acute appendicitis (AA) has been proposed, but its hereditary basis remains undetermined.

Objective

To identify genomic variants associated with AA.

Design, setting, and participants

This genome-wide association study, conducted from June 21, 2019, to February 4, 2020, used a multi-institutional biobank to retrospectively identify patients with AA across 8 single-nucleotide variation (SNV) genotyping batches. The study also examined differential gene expression in appendiceal tissue samples between patients with AA and controls using the GSE9579 data set in the National Institutes of Health's Gene Expression Omnibus repository. Statistical analysis was conducted from October 1, 2019, to February 4, 2020.

Main outcomes and measures<

SUBMITTER: Gaitanidis A 

PROVIDER: S-EPMC8319828 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature