FMO3 allelic variants in Sicilian and Sardinian populations: Trimethylaminuria and absence of fish-like body odor

• Published in: Gene Vol. 515; no. 2; pp. 410 - 415
• Main Authors: D'Angelo, Rosalia, Esposito, Teresa, Calabrò, Marco, Rinaldi, Carmela, Robledo, Renato, Varriale, Bruno, Sidoti, Antonina
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 25.02.2013
• Subjects: Adult; Aged; Case-Control Studies; exons; Female; FMO3; Gene Frequency; genes; Genetic Association Studies; Genetic linkage; genetics; Genotype–phenotype correlation; Haplotypes; Humans; Italy; Linkage Disequilibrium; Male; Metabolism, Inborn Errors; Metabolism, Inborn Errors - genetics; Metabolism, Inborn Errors - urine; Methylamines; Methylamines - urine; Middle Aged; Mutation, Missense; Odorants; odors; Oxygenases; Oxygenases - genetics; phenotype; Polymorphism frequencies; Polymorphism, Single Nucleotide; Population diversity; Sicilian and Sardinian Island populations; single nucleotide polymorphism; trimethylamine; trimethylaminuria; urine; Italy; TMAO; NADPH; Sicilian and Sardinian Island populations; FAD; TMA; TMAU; FMO3; FMOs; Genotype–phenotype correlation; Polymorphism frequencies; HWE; Genetic linkage; SNPs; LD; ESI-MS/MS; PCR; RFLP; Population diversity

The N-oxygenation of amines by the human flavin-containing monooxygenase (form 3) (FMO3) represents an important means for the conversion of lipophilic nucleophilic heteroatom-containing compounds into more polar and readily excreted products. In healthy individuals, virtually all Trimethylamine (TM...