Association between NEDD4L variation and the genetic risk of acute appendicitis: A multi-institutional genome-wide association study
JAMA Aug 03, 2021
Gaitanidis A, Kaafarani HMA, Christensen MA, et al. - Researchers aimed at determining the genetic loci linked with acute appendicitis (AA). A genome-wide association study was performed using a multi-institutional biobank to retrospectively recognize patients with AA across 8 single-nucleotide variation (SNV) genotyping batches. Among a total of 29,706 included patients (15,088 women [50.8%]; mean [SD] age at enrollment, 60.1 [17.0] years), 1,743 had a history of AA. Findings revealed correlation of a genetic locus at chromosome 18q with AA, located in the NEDD4L gene. In addition, NEDD4L was identified to be one of the top differentially expressed genes in appendiceal tissue between AA patients and controls. Overall findings suggest correlation of NEDD4L variations with the development of AA; these findings can aid in improving understanding concerning the genetic predisposition to and pathogenesis of AA.
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