Relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population.

ABSTRACT:

Aim

The aim of this study was to investigate relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and phenotype (conversion of odorous trimethylamine into non-odorous trimethylamine N-oxide) in a large Japanese cohort suffering from trimethylaminuria.

Methods

Urinary excretion of trimethylamine and trimethylamine N-oxide was determined for 102 volunteers with self-reporting symptoms of trimethylaminuria. For each we determined the sequence of the entire coding region, plus 1.3 kb of flanking intronic and 2.5 kb of the upstream region of the FMO3 gene. The affect of upstream variants on transcription was determined with a reporter gene assay.

Results

Seventy-eight subjects were diagnosed as suffering from trimethylaminuria, based on urinary excretio

SUBMITTER: Shimizu M 

PROVIDER: S-EPMC4004404 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature