Establishment of a Quick and Highly Accurate Breath Test for ALDH2 Genotyping.

Establishment of a Quick and Highly Accurate Breath Test for ALDH2 Genotyping.

Clin Transl Gastroenterol. 2017 Jun 08;8(6):e96

Authors: Aoyama I, Ohashi S, Amanuma Y, Hirohashi K, Mizumoto A, Funakoshi M, Tsurumaki M, Nakai Y, Tanaka K, Hanada M, Uesaka A, Chiba T, Muto M

Abstract
OBJECTIVES: Acetaldehyde, the first metabolite of ethanol, is a definite carcinogen for the esophagus, head, and neck; and aldehyde dehydrogenase 2 (ALDH2) is a mitochondrial enzyme that catalyzes the metabolism of acetaldehyde. The ALDH2 genotype exists as ALDH2*1/*1 (active ALDH2), ALDH2*1/*2 (heterozygous inactive ALDH2), and ALDH2*2/*2 (homozygous inactive ALDH2). Many epidemiological studies have reported that ALDH2*2 carriers are at high risk for esophageal or head and neck squamous cell carcinomas by habitual drinking. Therefore, identification of ALDH2*2 carriers would be helpful for the prevention of those cancers, but there have been no methods suitable for mass screening to identify these individuals.
METHODS: One hundred and eleven healthy volunteers (ALDH2*1/*1 carriers: 53; ALDH2*1/*2 carriers: 48; and ALDH2*2/*2 carriers: 10) were recruited. Breath samples were collected after drinking 100 ml of 0.5% ethanol using specially designed gas bags, and breath ethanol and acetaldehyde levels were measured by semiconductor gas chromatography.
RESULTS: The median (range) breath acetaldehyde levels at 1 min after alcohol ingestion were 96.1 (18.1-399.0) parts per billion (p.p.b.) for the ALDH2*1/*1 genotype, 333.5 (78.4-1218.4) p.p.b. for the ALDH2*1/*2 genotype, and 537.1 (213.2-1353.8) p.p.b. for the ALDH2*2/*2 genotype. The breath acetaldehyde levels in ALDH2*2 carriers were significantly higher than for the ALDH2*1/*1 genotype. Notably, the ratio of breath acetaldehyde level-to-breath ethanol level could identify carriers of the ALDH2*2 allele very accurately (whole accuracy; 96.4%).
CONCLUSIONS: Our novel breath test is a useful tool for identifying ALDH2*2 carriers, who are at high risk for esophageal and head and neck cancers.

PMID: 28594397 [PubMed - in process]

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