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World J Gastrointest Pathophysiol. 2013 Nov 15;4(4):65-73. doi: 10.4291/wjgp.v4.i4.65.

Genetic contribution to motility disorders of the upper gastrointestinal tract.

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  • 1Giovanni Sarnelli, Alessandra D'Alessandro, Marcella Pesce, Ilaria Palumbo, Rosario Cuomo, Gastroenterology Unit, Department of Clinical Medicine and Surgery, University of Naples "Federico II", 80131 Naples, Italy.


Motility disorders of the upper gastrointestinal tract encompass a wide range of different diseases. Esophageal achalasia and functional dyspepsia are representative disorders of impaired motility of the esophagus and stomach, respectively. In spite of their variable prevalence, what both diseases have in common is poor knowledge of their etiology and pathophysiology. There is some evidence showing that there is a genetic predisposition towards these diseases, especially for achalasia. Many authors have investigated the possible genes involved, stressing the autoimmune or the neurological hypothesis, but there is very little data available. Similarly, studies supporting a post-infective etiology, based on an altered immune response in susceptible individuals, need to be validated. Further association studies can help to explain this complex picture and find new therapeutic targets. The aim of this review is to summarize current knowledge of genetics in motility disorders of the upper gastrointestinal tract, addressing how genetics contributes to the development of achalasia and functional dyspepsia respectively.


Achalasia; Functional dyspepsia; Genetic predisposition; Hypertrophic pyloric stenosis; Motility disorder

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