B-type natriuretic peptide single nucleotide polymorphism rs198389 is highly prevalent and impacts test characteristics of common assays

Guido Boerrigter,Joshua P Susser,Timothy M Olson,Margaret M Redfield,Lisa C Costello-Boerrigter,Douglas W Mahoney,John C Burnett,Denise M Heublein,Richard J Rodeheffer,Syed Ameenuddin

doi:10.1186/1471-2210-9-s1-p9

Guido Boerrigter, Joshua P Susser + Show 8 more

Open Access

https://doi.org/10.1186/1471-2210-9-s1-p9

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Journal: BMC Pharmacology	Publication Date: Aug 1, 2009
Citations: 2	License type: CC BY 2.0

Affiliation: Mayo Clinic, Winneshiek Medical Center

Abstract

Address: 1Cardiorenal Research Laboratory and Division of Cardiovascular Diseases, Mayo Clinic and Mayo Clinic College of Medicine, Rochester, Minnesota, USA, 2Division of Cardiovascular Diseases, Mayo Clinic and Mayo Clinic College of Medicine, Rochester, Minnesota, USA, 3Division of Epidemiology, Mayo Clinic and Mayo Clinic College of Medicine, Rochester, Minnesota, USA, 4Division of Biostatistics, Mayo Clinic and Mayo Clinic College of Medicine, Rochester, Minnesota, USA and 5Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic and Mayo Clinic College of Medicine, Rochester, Minnesota, USA

Highlights

BNP assays are widely used in the diagnosis and prognosis of left ventricular (LV) dysfunction and heart failure
The goal of this study was to determine for the first time the prevalence of rs198389 in a US general adult population and its impact on (a) three commonly used BNP assays (BNP levels, diagnostic test performance), and (b) clinical phenotype and disease prevalence
When using previously reported genotype-unadjusted cutpoints for the detection of LV ejection fraction ≤ 40% and ≤ 50%, sensitivity increased with the number of C-alleles, whereas specificity decreased

Summary

Background

BNP assays are widely used in the diagnosis and prognosis of left ventricular (LV) dysfunction and heart failure. The functional single nucleotide polymorphism rs198389 in the promoter region of the BNP gene has been associated with higher BNP levels [1-3]. The prevalence of rs198389 in the general US population is unknown. The impact on common assay test characteristics, and cardiovascular and clinical phenotypes is unknown. The goal of this study was to determine for the first time the prevalence of rs198389 in a US general adult population and its impact on (a) three commonly used BNP assays (BNP levels, diagnostic test performance), and (b) clinical phenotype and disease prevalence

Materials and methods

Results

Conclusion