Scripps VIVO scripps research logo

  • Index
  • Log in
  • Home
  • People
  • Organizations
  • Research
  • Events
Search form
As of April 1st VIVO Scientific Profiles will no longer updated for faculty, and the link to VIVO will be removed from the library website. Faculty profile pages will continue to be updated via Interfolio. VIVO will continue being used behind the scenes to update graduate student profiles. Please contact helplib@scripps.edu if you have questions.
How to download citations from VIVO | Alternative profile options

Dopamine d1 receptor (drd1) genetic polymorphism: Pleiotropic effects on heritable renal traits

Academic Article
uri icon
  • Overview
  • Research
  • Identity
  • Additional Document Info
  • View All
scroll to property group menus

Overview

authors

  • Fung, M. M.
  • Rana, B. K.
  • Tang, C. M.
  • Shiina, T.
  • Nievergelt, C. M.
  • Rao, F. W.
  • Salem, R. M.
  • Waalen, Jill
  • Ziegler, M. G.
  • Insel, P. A.
  • O'Connor, D. T.

publication date

  • November 2009

journal

  • Kidney International  Journal

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.

subject areas

  • Adult
  • Alleles
  • Cohort Studies
  • Creatinine
  • Female
  • Gene Frequency
  • Glomerular Filtration Rate
  • Humans
  • Male
  • Polymorphism, Genetic
  • Receptors, Dopamine D1
  • Uric Acid
scroll to property group menus

Research

keywords

  • DRD1
  • GFR
  • dopamine
  • genetic polymorphism
  • kidney
scroll to property group menus

Identity

PubMed Central ID

  • PMC2803094

International Standard Serial Number (ISSN)

  • 0085-2538

Digital Object Identifier (DOI)

  • 10.1038/ki.2009.306

PubMed ID

  • 19675531
scroll to property group menus

Additional Document Info

start page

  • 1070

end page

  • 1080

volume

  • 76

issue

  • 10

©2022 The Scripps Research Institute | Terms of Use | Powered by VIVO

  • About
  • Contact Us
  • Support