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Association of ABCB1 genetic variants with renal function in Africans and in Caucasians

Murielle Bochud1, Chin B Eap, Marc Maillard

  • 1Division of Nephrology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Murielle.Bochud@chuv.ch

BMC Medical Genomics
|June 4, 2008
PubMed

Insights

Genetic variants in the ABCB1 gene are linked to kidney function in both African and Caucasian populations. These ABCB1 gene variations may increase susceptibility to kidney disease, suggesting a new candidate gene for nephropathy.

Area of Science:

  • Genetics
  • Nephrology
  • Pharmacogenomics

Background:

  • P-glycoprotein, encoded by the ABCB1 gene, plays a role in regulating renal plasma flow and glomerular filtration rate.
  • ABCB1 gene expression is found in human endothelial and mesangial cells within the kidney.

Purpose of the Study:

  • To investigate the association between ABCB1 gene variants and renal function.
  • To examine these associations in both African and Caucasian populations.

Main Methods:

  • Genotyping of ABCB1 polymorphisms (2677G>T, 3435C>T) in African subjects and analysis of 30 SNPs in Caucasians using Affymetrix 500K chip data.
  • Measurement of glomerular filtration rate (GFR) and effective renal plasma flow (ERPF) in Africans; GFR estimation using MDRD and Cockcroft-Gault equations in Caucasians.

Main Results:

  • In Africans, specific ABCB1 alleles (2677T, 3435T) were associated with significantly higher GFR and ERPF, and lower renal resistance.
  • In Caucasians, three ABCB1 gene polymorphisms showed a strong association with all estimated GFR values, even after multiple testing correction.

Conclusions:

  • ABCB1 gene variants are associated with renal function in both African and Caucasian individuals.
  • These findings suggest that ABCB1 variants may confer susceptibility to nephropathy.
  • The ABCB1 gene emerges as a potential candidate gene for human nephropathy.
Abstract

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