Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity
R Slim, F Torremocha, T Moreau, A Pizard… - Journal of the …, 2002 - journals.lww.com
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, ie, Arg53His (allelic frequency in Caucasian subjects, 0.03) and Gln121Glu (allelic …
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, ie, Arg53His (allelic frequency in Caucasian subjects, 0.03) and Gln121Glu (allelic …