Gaitanidis A, Kaafarani HMA, Christensen MA, et al. - A genome-wide association study was conducted to determine the genetic loci linked with acute appendicitis (AA).

• Using a multi-institutional biobank, researchers retrospectively retrieved data of patients with AA across 8 single-nucleotide variation (SNV) genotyping batches.

• Differential gene expression in appendiceal tissue samples was examined between patients with AA and controls using the GSE9579 data set in the National Institutes of Health’s Gene Expression Omnibus repository.

• AA was noted in association with a genetic locus at chromosome 18q, located in the NEDD4L gene.

• Furthermore, NEDD4L was one of the top differentially expressed genes in appendiceal tissue between AA patients and controls.

• Findings overall suggest correlation of NEDD4L variations with the development of AA.