Cells · 2022 · 10 citations · 19 references
MedicineGeneticsMolecular GeneticsCardiovascular GeneticsClinical CardiologyMedical GeneticsCardiac BiomarkersCardiovascular DiseaseCoronary Artery DiseaseGenetic RiskGenetic SusceptibilityGenotype-phenotype CorrelationB-type Natriuretic PeptidesCoronary Artery Disease GeneticsHaplotype-phenotype AssociationsPlasma Concentration VariabilitySingle-nucleotide Polymorphisms
Plasma concentrations of natriuretic peptides (NP) contribute to risk stratification and management of patients undergoing non-cardiac surgery. However, genetically determined variability in the levels of these biomarkers has been described previously. In the perioperative setting, genetic contribution to NP plasma level variability has not yet been determined. A cohort of 427 patients presenting for non-cardiac surgery was genotyped for single-nucleotide polymorphisms (SNPs) from the NPPA/NPPB locus. Haplotype population frequencies were estimated and adjusted haplotype trait associations for brain natriuretic peptide (BNP) and amino-terminal pro natriuretic peptide (NT-proBNP) were calculated. Five SNPs were included in the analysis. Compared to the reference haplotype TATAT (rs198358, rs5068, rs632793, rs198389, rs6676300), haplotype CACGC, with an estimated frequency of 4%, showed elevated BNP and NT-proBNP plasma concentrations by 44% and 94%, respectively. Haplotype CGCGC, with an estimated frequency of 9%, lowered NT-proBNP concentrations by 28%. ASA classification status III and IV, as well as coronary artery disease, were the strongest predictors of increased NP plasma levels. Inclusion of genetic information might improve perioperative risk stratification of patients based on adjusted thresholds of NP plasma levels.
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Lee A. Fleisher, Kirsten E. Fleischmann, Andrew D. Auerbach et al. · Journal of the American College of Cardiology · 2014 · 1.3K citations
Estimation and Tests of Haplotype-Environment Interaction when Linkage Phase Is Ambiguous
Stephen Lake, Helen N. Lyon, Kelan G. Tantisira et al. · Human Heredity · 2003 · 434 citations