ABAT Gene and Its Role in Gastroesophageal Reflux Disease
Author Information
Author(s): Jirholt Johan, Åsling Bengt, Hammond Paul, Davidson Geoffrey, Knutsson Mikael, Walentinsson Anna, Jensen Jörgen M., Lehmann Anders, Agreus Lars, Lagerström-Fermer Maria
Primary Institution: AstraZeneca R&D, Mölndal, Sweden
Hypothesis
Is the ABAT gene associated with susceptibility to gastroesophageal reflux disease (GERD)?
Conclusion
The study identifies the ABAT gene as a potential genetic risk factor for GERD, with evidence from both genetic analysis and animal studies.
Supporting Evidence
- Linkage analysis identified significant regions on chromosome 16 associated with GERD.
- Genetic association analysis revealed a significant association for SNP rs1641021 in the ABAT gene.
- Pharmacological studies in dogs showed that inhibiting ABAT reduced reflux events.
Takeaway
Scientists found a gene called ABAT that might make some people more likely to have GERD, a condition where stomach acid comes back up into the throat.
Methodology
The study used linkage analysis in families, association analysis in trios, and pharmacological testing in dogs.
Limitations
The association found in the pediatric cohort did not replicate in the adult cohort, possibly due to ethnic differences.
Participant Demographics
The pediatric cohort consisted of 219 children with GERD, while the adult cohort included 256 cases and 485 controls, with a median age of 56.
Statistical Information
P-Value
0.027
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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