Phenylethanolamine N-methyltransferase gene polymorphisms and adverse outcomes in acute kidney injury

Nephron Clin Pract. 2010;114(4):c253-9. doi: 10.1159/000276577. Epub 2010 Jan 20.

Abstract

Background/aims: The catecholaminergic pathway is important in the physical stress response; however, its role is not well understood in acute kidney injury (AKI). We studied single nucleotide polymorphisms (SNPs) of phenylethanolamine N-methyltransferase (PNMT), the terminal enzyme of the catecholaminergic pathway, and their association with adverse outcomes in AKI.

Methods: We performed a case-control study of 961 Caucasian subjects (194 with AKI and 767 controls). The PNMT promoter G-161A (rs876493) and coding A+1543G (rs5638) SNPs were genotyped and haplotypes generated. The outcomes of interest were the development of AKI, in-hospital mortality, dialysis requirement, oliguria, and hemodynamic shock. Urine catecholamines were measured in cases to explore genotype-phenotype correlations.

Results: The PNMT +1543 G allele was associated with AKI [odds ratio (OR) 2.19, 95% confidence interval (CI): 1.04-4.60]. For AKI cases, each PNMT -161 A allele was associated with lower mortality (OR 0.58, 95% CI: 0.35-0.99) and hemodynamic shock (OR 0.63, 95% CI: 0.40-1.00). The PNMT +1543 G allele was associated with oliguria (OR 3.35, 95% CI: 1.13-9.95). Urine adrenaline was associated with increased hemodynamic shock and mortality, but was lowest in PNMT -161 A/A carriers.

Conclusion: In Caucasians, PNMT SNPs are associated with the development of AKI, disease severity, and in-hospital mortality. The adrenergic pathway provides another area of focus in the study of AKI.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Kidney Injury / enzymology*
  • Acute Kidney Injury / genetics*
  • Acute Kidney Injury / mortality
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Female
  • Follow-Up Studies
  • Haplotypes / genetics
  • Hospital Mortality / trends
  • Humans
  • Male
  • Middle Aged
  • Phenylethanolamine N-Methyltransferase / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Prospective Studies
  • Renal Dialysis / trends
  • Severity of Illness Index
  • Treatment Outcome

Substances

  • Phenylethanolamine N-Methyltransferase