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Association of genetic variation with gene expression and protein abundance within the natriuretic peptide pathway.

ABSTRACT: The natriuretic peptide (NP) system is a critical physiologic pathway in heart failure with wide individual variability in functioning. We investigated the genetic component by testing the association of single nucleotide polymorphisms (SNP) with RNA and protein expression. Samples of DNA, RNA, and tissue from human kidney (n?=?103) underwent genotyping, RT-PCR, and protein quantitation (in lysates), for four candidate genes [NP receptor 1 (NPR1), NPR2, and NPR3 and membrane metalloendopeptidase]. The association of genetic variation with expression was tested using linear regression for individual SNPs, and a principal components (PC) method for overall gene variation. Eleven SNPs in NPR2 were significantly associated with protein expression (false discovery rate ?0.05), but not RNA quantity. RNA and protein quantity correlated poorly with each other. The PC analysis showed only NPR2 as significant. Assessment of the clinical impact of NPR2 genetic variation is needed.

SUBMITTER: Lanfear DE

PROVIDER: S-EPMC3795918 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature

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Association of genetic variation with gene expression and protein abundance within the natriuretic peptide pathway.

Lanfear David E DE Sunkara Bipin B Li Jia J Rastogi Sharad S Gupta Ramesh C RC Padhukasahasram Badri B Williams L Keoki LK Sabbah Hani N HN

Journal of cardiovascular translational research 20130709 5

The natriuretic peptide (NP) system is a critical physiologic pathway in heart failure with wide individual variability in functioning. We investigated the genetic component by testing the association of single nucleotide polymorphisms (SNP) with RNA and protein expression. Samples of DNA, RNA, and tissue from human kidney (n = 103) underwent genotyping, RT-PCR, and protein quantitation (in lysates), for four candidate genes [NP receptor 1 (NPR1), NPR2, and NPR3 and membrane metalloendopeptidase ...[more]

PMID: 23835779

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Project description:IntroductionFluid management in hemodialysis patients is a controversial topic. Brain natriuretic peptide (BNP) is secreted from the heart in response to volume overload, and may be a marker of overhydration in hemodialysis patients. Our aim was to investigate the correlation between BNP and overhydration in a cohort of hemodialysis patients, and to find out whether BNP and overhydration correlate in repeated measurements within individuals with elevated BNP.MethodsThe study was prospective, observational, and had a cross-sectional part and a longitudinal follow-up. The distribution of BNP was investigated in a cohort of 64 hemodialysis patients. Blood samples and bioimpedance spectroscopy measurements were performed before midweek dialysis. Subsequently, 11 study participants with elevated BNP concentrations (>500?pg/mL) were assessed in another nine dialysis sessions each. These individuals also had their cardiac function and heart rate variability (HRV) examined.FindingsBNP was above 500?pg/mL in 38% of the participants, and correlated positively with overhydration (rs =?0.381), inflammation and malnutrition, but not with systolic blood pressure. In comparison to participants with BNP below 500?pg/mL, participants with elevated BNP were older, had lower muscle strength, lower bodyweight and lower levels of hemoglobin and albumin. Echocardiography revealed cardiac anomalies in all 11 participants in the longitudinal follow-up, and HRV, as measured by SDNN, was pathologically low. In repeated measurements, the between-individuals variation of BNP in relation to overhydration was greater (SD?=?0.581) than the within-person variation (SD?=?0.285).DiscussionBNP correlates positively to overhydration, malnutrition, and inflammation. In a subgroup of patients with elevated BNP, who are mainly elderly and frail, BNP reflects individual variation in hydration status, and hence seems to be a modifiable marker of overhydration. These data suggest that BNP is best applied for measuring changes in hydration status within an individual over time.

Dataset Information

Association of genetic variation with gene expression and protein abundance within the natriuretic peptide pathway.

Publications

Association of genetic variation with gene expression and protein abundance within the natriuretic peptide pathway.

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