Dopamine D1 receptor (DRD1) genetic polymorphism: pleiotropic effects on heritable renal traits

Kidney Int. 2009 Nov;76(10):1070-80. doi: 10.1038/ki.2009.306. Epub 2009 Aug 12.

Abstract

Because dopamine D(1) receptors (DRD1) influence renal sodium transport and vascular hemodynamics, we examined whether genetic polymorphisms play a role in renal function. We conducted polymorphism discovery across the DRD1 open reading frame and its 5'-UTR and then performed association studies with estimated glomerular filtration rate (eGFR), plasma creatinine (pCr), and fractional excretion of uric acid (FeUA). We used a twin/family group of 428 subjects from 195 families and a replication cohort of 677 patients from the Kaiser health-care organization sampled from the lower percentiles of diastolic blood pressures. Although the coding region lacked common non-synonymous variants, we identified two polymorphisms in the DRD1 5'-UTR (G-94A, A-48G) that occurred with frequencies of 15 and 30%, respectively. In the twin/family study, renal traits were highly heritable, such that DRD1 G-94A significantly associated with eGFR, pCr, and FeUA. Homozygotes for the G-94A minor allele (A/A) exhibited lower eGFR, higher pCr, and lower FeUA. No effects were noted for DRD1 A-48G. Patients in the Kaiser group had similar effects of G-94A on eGFR and pCr. Kidney cells transfected with the -94A variant but not the wild type vectors had increased receptor density. Because the -94A allele is common and may reduce glomerular capillary hydrostatic pressure, G-94A profiling may aid in predicting survival of renal function in patients with progressive renal disease.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Cohort Studies
  • Creatinine / blood
  • Female
  • Gene Frequency
  • Glomerular Filtration Rate / genetics
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Receptors, Dopamine D1 / genetics*
  • Uric Acid / metabolism

Substances

  • Receptors, Dopamine D1
  • Uric Acid
  • Creatinine