Novel variants and haplotypes of human flavin-containing monooxygenase 3 gene associated with Japanese subjects suffering from trimethylaminuria

• Published in: Xenobiotica Vol. 49; no. 10; pp. 1244 - 1250
• Main Authors: Shimizu, Makiko, Yoda, Hiromi, Igarashi, Narumi, Makino, Miki, Tokuyama, Emi, Yamazaki, Hiroshi
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 03.10.2019
• Subjects: Adolescent; Adult; Aged; Alleles; Amino Acid Substitution; Asian Continental Ancestry Group; Child, Preschool; Codon, Nonsense; Female; fish odor syndrome; FMO3; Gene Frequency; Haplotypes; Humans; Infant; Japan; Male; Metabolism, Inborn Errors - enzymology; Metabolism, Inborn Errors - genetics; Methylamines - metabolism; Methylamines - urine; Middle Aged; Mutation, Missense; N-oxygenation; Oxygenases; polymorphism; trimethylamine; trimethylamine N-oxide; Japan; trimethylamine; oxygenation; polymorphism; FMO3; trimethylamine -oxide; fish odor syndrome

1. Flavin-containing monooxygenase 3 (FMO3) in humans is polymorphic in several ethnic groups, including Caucasians, Africans and Asians. Some FMO3 variants are associated with a disorder trimethylaminuria. 2. In the current study, we used the results from urinary phenotyping assays to identify 63 s...