Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity.

Journal of the American Society of Nephrology : JASN
Rola SlimF Alhenc-Gelas

Abstract

Kallikrein is synthesized in the distal tubules and produces kinins, which are involved in the regulation of vascular tone in the kidney. Urinary kallikrein activity has been reported to be partly inherited and to be reduced in essential hypertension. In a systematic search for molecular variants of the human kallikrein gene, nine single-nucleotide polymorphisms were identified. Five of those polymorphisms, including two nonsynonymous substitutions in exon 3, i.e., Arg53His (allelic frequency in Caucasian subjects, 0.03) and Gln121Glu (allelic frequency, 0.33), were studied in a normotensive group and two independent hypertensive groups for which 24-h urinary kallikrein activity had been measured. A significant decrease in urinary kallikrein activity was observed for the subjects who were heterozygous for the Arg53His polymorphism, compared with the other subjects. This finding was consistent in the two hypertensive groups and was observed with several kallikrein enzymatic assays. The Gln121Glu polymorphism and the other polymorphisms were not associated with changes in urinary kallikrein activity. None of the polymorphisms was associated with hypertension. Recombinant kallikrein variants were synthesized and enzymatically char...Continue Reading

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Citations

Apr 4, 2021·Pharmaceuticals·Jean-Pierre GirolamiFrancois Alhenc-Gelas
Oct 8, 2003·Hypertension·Natapong KosachunhanunGordon H Williams
Nov 14, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Paul N Hopkins, Steven C Hunt
Aug 2, 2005·Biochimica Et Biophysica Acta·Qingyu WuGary Gang Deng
Apr 14, 2018·Circulation. Genomic and Precision Medicine·Francois Alhenc-Gelas, Joel Menard
Apr 30, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·V Griol-CharhbiliC Richer
Oct 28, 2005·Journal of the American Society of Nephrology : JASN·Nicolas PicardPascal Houillier
May 3, 2006·Journal of Pharmacological Sciences·Makoto Katori, Masataka Majima
Aug 21, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Anne BlanchardXavier Jeunemaitre
Mar 14, 2007·Journal of Hypertension·John P FormanNaomi Dl Fisher
Mar 29, 2007·Nature Clinical Practice. Nephrology·Paolo MadedduSamir El-Dahr
Jul 20, 2007·The Journal of Pharmacology and Experimental Therapeutics·Erij Messadi-LaribiChristine Richer
Mar 1, 2008·Clinical and Experimental Pharmacology & Physiology·E Messadi-LaribiC Richer
Jul 17, 2008·Biological Chemistry·Anne PizardFrançois Alhenc-Gelas
Jan 24, 2009·Arteriosclerosis, Thrombosis, and Vascular Biology·Oliver A StonePaolo Madeddu
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Dec 6, 2011·Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics·Jerry G Webb

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