The Genetic Background in Achalasia: A Systematic Review

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BACKGROUND AND AIMS: The etiology of achalasia remains incompletely understood. Accumulating evidence suggests that genetic susceptibility contributes to disease development, interacting with immune-mediated and environmental factors. This systematic review aims to comprehensively evaluate current evidence on the genetic background of achalasia, summarizing data from candidate gene studies, genome-wide association analyses, and investigations of syndromic forms of the disease. METHODS: A systematic literature review was conducted to identify studies examining genetic associations, familial aggregation, syndromic achalasia, and genomic or transcriptomic alterations in patients with achalasia. Evidence was synthesized to assess genetic susceptibility factors and mechanistic pathways contributing to disease pathogenesis. RESULTS: A total of 21 studies were included in this systematic review. The available data indicate that achalasia has a multifactorial genetic background involving HLA-related immune susceptibility, polymorphisms in immune regulatory genes, altered neurotransmission pathways, and transcriptional dysregulation. CONCLUSIONS: Genetic factors implicated in achalasia primarily involve immune susceptibility, disrupted neurotransmission, and transcriptional dysregulation, collectively supporting an immune-mediated neurodegenerative mechanism underlying disease pathogenesis. Integrating data from idiopathic and syndromic achalasia with genomic approaches may improve understanding of disease mechanisms and enable earlier diagnosis and personalized therapeutic strategies.

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