What question did this study set out to answer?

This review aims to evaluate the genetic factors contributing to achalasia, focusing on immune and environmental interactions.

The Genetic Background in Achalasia: A Systematic Review

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Systematic review evaluates genetic associations in achalasia, suggesting immune and neurodegenerative components.

This review aims to evaluate the genetic factors contributing to achalasia, focusing on immune and environmental interactions.
Conducted a systematic literature review to identify studies on genetic associations and risk factors in achalasia.
Synthesized evidence from candidate gene studies, genome-wide association analyses, and syndromic investigations.
Assessed the role of genetic susceptibility and mechanistic pathways in disease pathogenesis.
Reviewed 21 studies highlighting that achalasia has a multifactorial genetic background.
Identified genetic factors including HLA-related immune susceptibility and altered neurotransmission pathways.
Concluded that immune-mediated mechanisms and transcriptional dysregulation significantly contribute to achalasia pathogenesis.

Dita et al. (2026) studied this question.

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