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Association between idiopathic achalasia and IL23R gene
A R de León1, J P de la Serna, J L Santiago
1Gastroenterology Department, Hospital Clínico San Carlos, Madrid, Spain.
Neurogastroenterology and Motility
|April 7, 2010
Summary
The IL23R gene variant Arg381Gln is associated with an increased risk of developing idiopathic achalasia, particularly in males over 40. This finding highlights the gene's role in autoimmune and inflammatory conditions.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Idiopathic achalasia is a primary esophageal motor disorder with unknown causes.
- Evidence suggests an autoimmune and inflammatory basis, linked to human leukocyte antigen class II alleles.
- The IL23R gene, implicated in chronic inflammatory diseases, is a potential candidate for achalasia susceptibility.
Purpose of the Study:
- To investigate the association between the IL23R gene's Arg381Gln polymorphism and idiopathic achalasia risk.
- To determine if this specific IL23R variant contributes to the susceptibility of developing achalasia.
Main Methods:
- A case-control study involving 262 idiopathic achalasia patients and 802 healthy Spanish Caucasians.
- Diagnosis of achalasia confirmed by clinical, radiographic, endoscopic, and manometric criteria.
- Genotyping for the IL23R Arg381Gln polymorphism using TaqMan technology.
Main Results:
- The minor allele of the IL23R Arg381Gln polymorphism was significantly more frequent in achalasia patients (OR=1.46, P=0.036).
- This association was notably stronger in male patients with disease onset after 40 years (OR=2.33, P=0.002).
Conclusions:
- The IL23R gene variant Arg381Gln appears to play a role in idiopathic achalasia predisposition.
- This finding supports the broader involvement of IL23R in autoimmune and inflammatory disease pathogenesis.
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