Natriuretic Peptide Receptor-3 Gene ( NPR3 )
Population
288 healthy subjects for DNA resequencing, and HEK293 cells for in vitro functional characterization.
Comparison
Resequencing of NPR3 exons, splice junctions… vs Wild-type NPR3 allozymes.
Design
Preclinical
Authors
Discussion
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Implication
Arg146 variant may impair natriuretic peptide metabolism; hypothesis-generating for NPR3 in human cardiovascular phenotypes.
Structured PICO
P
Population
288 healthy subjects (96 European American, 96 African American, and 96 Han Chinese American) for DNA resequencing, and HEK293 cells for in vitro functional characterization.
I
Intervention
Resequencing of NPR3 exons, splice junctions, and flanking regions, and functional characterization of nonsynonymous single-nucleotide polymorphisms using expression constructs.
C
Comparator
Wild-type NPR3 allozymes.
O
Outcome
Identification of genetic polymorphisms and measurement of recombinant protein quantity by quantitative Western blot analysis.surrogate
Identified multiple novel NPR3 genetic polymorphisms across three ethnic groups, with the Arg146 variant causing significant protein degradation that could impact natriuretic peptide metabolism.
Cite This Study
Pereira et al. (2013) studied this question.