Tu1147 Acotiamide Has the Potential to Become a Promising Treatment for Patients With Esophagogastric Junction Outflow Obstruction

detected by the high-throughput sequencer were confirmed by a direct sequencing procedure. Results: Seven variants were extracted by the high-throughput sequencer, and were analyzed using direct sequencing. Because the present study aimed to identify variants strongly associated with esophageal achalasia, variants were considered to indicate susceptibility to esophageal achalasia only when the variants were detected in all samples by both highthroughput and direct sequencing. Only the rs4898 T/C polymorphism was detected in all samples by both high-throughput and direct sequencing. Therefore, rs4898 was identified to indicate susceptibility to esophageal achalasia. This polymorphism is included in an intron of the synapsin 1 (SYN-1) gene and exon 5 of the tissue inhibitor of metalloproteinase-1 (TIMP-1). The polymorphism was detected in 16 of 21 patients with esophageal achalasia, including seven homozygous cases and nine heterozygous cases (76.2%), while seven of the 20 HVs, including five homozygous and two heterozygous cases (35.0%), were detected. The polymorphismwasmore frequently detected in female patients with esophageal achalasia. The age of onset and the need for surgical treatment were not associated with the frequency of the polymorphism. Conclusion: A genetic polymorphism, rs4898, in patients with esophageal achalasia was identified using a high-throughput sequencer with an original panel of target genes. The region of rs4898 is included in an intron of SYN-I, which is associated with the function of synapses, and in exon 5 of TIMP-I. The rs4898 polymorphism is considered to be a new risk marker for esophageal achalasia, and may be associated with the pathogenesis of esophageal achalasia through the altered expression of SYN-1 and/or TIMP-1.