Characterization of two polymorphic sites in the human kinin B1 receptor gene: altered frequency of an allele in patients with a history of end-stage renal failure.

Journal of the American Society of Nephrology : JASN
D R BachvarovF Marceau

Abstract

On the basis of the genomic structure of the human B1 receptor (B1R) for kinins, the presence of possible allelic polymorphisms of this gene was investigated using restriction fragment-length polymorphism and single-strand conformation polymorphism. The frequencies of the found alleles were determined in healthy volunteers and in patients with a history of end-stage renal failure, because there is evidence for a nephroprotective action of the kallikrein-kinin system. An A1098-->G polymorphism has been identified in exon 3 in a minority of volunteer blood donors, and is located 35 nucleotides downstream from the stop codon and 14 nucleotides upstream from the polyadenylation signal. The frequency of the G allele is 4.4% in the control sample and not significantly altered in patients with a history of end-stage renal failure. A second and more frequent polymorphism (18.1% of the alleles in the control group, prevalence of 33.3%) consists of a single base substitution (G-699-->C) in the putative promoter region. This polymorphism is significantly less frequent in the population of renal failure patients (prevalence of 20.6%) and determines an increased activity of the promoter function in constructions involving a reporter gene. T...Continue Reading

Citations

May 16, 2000·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·H KniggeE Ritz
Oct 7, 2006·Current Opinion in Gastroenterology·S Schreiber, J Hampe
Oct 13, 2006·Current Opinion in Gastroenterology·S Schreiber, J Hampe
May 25, 2002·Canadian Journal of Physiology and Pharmacology·Isabelle MaltaisDimcho Bachvarov
Apr 23, 2003·Clinical Chemistry and Laboratory Medicine : CCLM·Johanna WeissWalter Emil Haefeli
Sep 24, 2005·Journal of Pharmacological Sciences·Marie Eve MoreauAlbert Adam
Feb 2, 1999·Clinical Reviews in Allergy & Immunology·F Marceau, D R Bachvarov
Feb 5, 2009·Kidney International·Masao Kakoki, Oliver Smithies

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