Large association study of exonic variants in idiopathic achalasia

Idiopathic achalasia is a severe disorder of the lower esophageal sphincter (LES) with a lifetime prevalence of 1:10,000. The disease is characterized by the degeneration of neurons in the myenteric plexus leading to the development of a megaesophagus with irreversible loss of LES function. On the etiological level, achalasia represents a multifactorial disorder with environmental and genetic factors being risk-associated. The aim of the present study was to determine the role of exonic variants in the development of achalasia. We performed an association study using Illumina's Exomechips which have been develop…