Key PointsQuestionWhat genetic loci are associated with acute appendicitis (AA)? FindingsIn this genome-wide association study, a genetic locus at chromosome 18q was found to be associated with AA, located in the NEDD4L gene. NEDD4L was also among the top differentially expressed genes in appendiceal tissue between AA patients and controls. MeaningThis study suggests that NEDD4L variations are associated with the development of AA; these findings can improve understanding of the genetic predisposition to and pathogenesis of AA.
JAMA Surgery – American Medical Association
Published: Oct 28, 2021