¹³C-caffeine breath test identifies single nucleotide polymorphisms associated with caffeine metabolism

Area of Science:

• Pharmacogenomics
• Metabolomics
• Biochemistry

Background:

• Single nucleotide polymorphisms (SNPs) influence drug metabolism, including caffeine.
• Accurate identification of SNPs is crucial for personalized medicine and understanding drug responses.
• The caffeine breath test (CafeBT) is a non-invasive method to assess drug metabolism.

Purpose of the Study:

• To evaluate the caffeine breath test (CafeBT) for identifying SNPs associated with caffeine metabolism.
• To investigate the relationship between specific genetic variations and caffeine N-3 demethylation rates.

Main Methods:

• 130 healthy adults underwent the CafeBT after ingesting 13C-caffeine.
• Breath samples were collected over 90 minutes to measure 13CO2 levels (S90m).
• Saliva DNA was genotyped for SNPs in CYP1A2, AHR, and ADRA2A genes.

Main Results:

• No significant differences in S90m were found for rs762551 and rs5751876 genotypes.
• A significant difference in S90m was observed among genotypes of rs4410790 (AHR gene).
• The N-3 demethylation of caffeine was found to be dependent on the rs4410790 allele.

Conclusions:

• The caffeine breath test (CafeBT) can be utilized to determine rs4410790 genotypes.
• The rs4410790 polymorphism in the aryl-hydrocarbon receptor gene influences caffeine N-3 demethylation.
• CafeBT shows potential as a tool for pharmacogenomic profiling related to caffeine metabolism.