Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.

doi:10.1016/j.ajhg.2021.06.004

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Article

Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.

American journal of human genetics - 5 Aug 2021

Li Quanlin, Chen Weifeng, Wang Cheng, Liu Zuqiang, Gu Yayun, Xu Xiaoyue, Xu Jiaxing, Jiang Tao, Xu Meidong, Wang Yifeng, Chen Congcong, Zhong Yunshi, Zhang Yiqun, Yao Liqing, Jin Guangfu, Hu Zhibin, Zhou Pinghong

Abstract excerpt

Idiopathic achalasia (IA) is a severe motility disorder characterized by neuronal degeneration in the myenteric plexus, but the etiology remains largely unknown. We performed whole-exome sequencing (WES) in 100 IA-affected individuals and 313 non-IA control subjects and validated the results in 230 IA-affected individuals and 1,760 non-IA control subjects. Common missense variants rs1705003 (CUTA, GenBank:...

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Identifiers

PMID: 34197731
DOI: 10.1016/j.ajhg.2021.06.004
PMCID: PMC8387277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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