Association of FMO3 Variants and Trimethylamine N-Oxide Concentration, Disease Progression, and Mortality in CKD Patients

PLoS One. 2016 Aug 11;11(8):e0161074. doi: 10.1371/journal.pone.0161074. eCollection 2016.

Abstract

Elevated levels of circulating pro-atherogenic uremic solutes, particularly trimethylamine N-oxide (TMAO), have been implicated in cardiovascular disease development in patients with chronic kidney disease (CKD). TMAO is generated from trimethylamine (TMA) via metabolism by hepatic flavin-containing monooxygenase isoform 3 (FMO3). We determined the functional effects of three common FMO3 variants at amino acids 158, 308, and 257 on TMAO concentrations in a prospective cohort study and evaluated associations of polymorphisms with CKD progression and mortality. Each additional minor allele at amino acid 158 was associated with a 0.38 μg/mL higher circulating TMAO (p = 0.01) and with faster rates of annualized relative eGFR decline. Participants with 0, 1 and 2 variant alleles averaged an eGFR loss of 8%, 12%, and 14% per year, respectively (p-for trend = 0.05). Compared to participants with the homozygous reference allele, heterozygous and homozygous variant participants had a 2.0-fold (95% CI: 0.85, 4.6) and 2.2-fold (95% CI: 0.89, 5.48) higher risk of mortality, respectively (p-for-trend = 0.04). No associations with clinical outcomes were observed for allelic variants at amino acids 257 or 308. Understanding the contribution of genetic variation of FMO3 to disease progression and all-cause mortality can guide recommendations for diet modification or pharmacotherapy in CKD patients at increased risk of adverse outcomes.

MeSH terms

  • Biomarkers / metabolism
  • Disease Progression
  • Female
  • Humans
  • Male
  • Methylamines / blood*
  • Middle Aged
  • Oxygenases / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Prognosis
  • Prospective Studies
  • Renal Insufficiency, Chronic / blood
  • Renal Insufficiency, Chronic / genetics*
  • Renal Insufficiency, Chronic / mortality*
  • Renal Insufficiency, Chronic / pathology
  • Survival Rate

Substances

  • Biomarkers
  • Methylamines
  • Oxygenases
  • dimethylaniline monooxygenase (N-oxide forming)
  • trimethyloxamine