Influence of ScaI and Natriuretic Peptide (NP) Clearance Receptor Polymorphisms of the NP System on NP Concentration in Chronic Heart Failure

Abstract

Results: ScaI polymorphism had no effect on NP concentration in the NYHA I-II subgroup. Conversely, in severe HF, A1 carriers had higher ANP (P <0.05), BNP (P <0.01), and NT-proBNP (P <0.01) than A2A2 patients. After multivariate adjustment, A1 presence remained an independent predictor for increased NP. Regarding NPRC polymorphism in mild HF, higher ANP (P <0.05) and BNP (P <0.05) were observed in CC than A allele carriers. After multivariate adjustment, however, this association did not remain significant. In severe HF, the NPRC polymorphism had no effect on NP.

Identification of a regulatory domain controlling the Nppa-Nppb gene cluster during heart development and stress

“…Two single nucleotide polymorphisms, rs5065 in an exon of NPPA (Vassalle et al, 2007) and rs1023252 in an intron of CLCN6 (Del Greco et al, 2011), showed association with NT-proBNP (N-terminal of the prohormone brain natriuretic peptide) levels in patients with cardiac dysfunction, indicating that these variants can affect the function of regulatory sequences. Genetic variants associated with hypertension (Flister et al, 2013) are positioned across a larger 300-kb region (from upstream of NPPB to downstream of Fig.…”

Genetic Polymorphisms of the Natriuretic Peptide System in the Pathogenesis of Cardiovascular Disease: What Lies on the Horizon?

“…The C(-55) allele of the NPR3 gene was found also to be associated with family history of hypertension (54 ). However, our recent data did not show the C(-55) NPR3 polymorphism to be an independent determinant of NP concentration in HF (41 ).…”

“…Several polymorphisms in the NPR3 gene have been described, including the C(-55)A polymorphism in the promoter region of the NPR3 gene and a VNTR polymorphism consisting of a 6-nucleotide repeat 4 bp upstream from the major transcriptional initiation site in the 5Ј flanking region of the NPR3 gene (49,41,42,(52)(53)(54)(55)(56)(57).…”

"Diabetes Associated Genes from the Dark Matter of the Human Proteome"

“…[74][75][76] The C12orf30 is associated with type 1 diabetes, hypothyroidism, arthritis, systemic lupus erythematosus, other autoimmune disorders and prostate cancer. [77][78][79] The druggableness of the C12orf30 (enzyme) offers an attractive target for type 1 diabetes-associated disorders and complications.…”