Analysis of variants in the HCN4 gene and in three single nucleotide polymorphisms of the CYP3A4 gene for association with ivabradine reduction in heart rate: A preliminary report

Abstract

L12L, L520L, P852P, and P1200P, were detected in the HCN4 gene (frequency = 0.045, 0.045, and 0.681, respectively). Moreover, the CYP3A4*1F and CYP3A4*1B were found in one patient each and CYP3A4*1G was presented in 3 patients. Conclusions: This is the first study using an exploratory pharmacogenetic approach that attempts to explain interindividual variability in ivabradine HR reduction. However, more research must be undertaken in order to determine the role of variants in HCN4 and CYP3A4 genes in response to ivabradine. (Cardiol J 2016; 23, 5: 573-582)

AGT haplotype in ITGA4 gene is related to antibody-mediated rejection in heart transplant patients

“…DNA was extracted from clots and blood samples using QIAamp DNA Blood Mini Kit (Qiagen Inc. Hilden, Germany), as previously described [8,10]. In all cases and controls, sequencing was performed on NextSeq500 using TruSight One Sequencing Panel (Illumina, San Diego, CA, USA), which included the selected 61 genes related to the biology of B-cells (S1 Table).…”

“…To assess quality of the NGS data, we define sensitivity as true positive/(true positive+ false negative), specificity as true negative/(true negative+false positive), and accuracy as (true positive+true negative)/(true positive+false positive+ false negative+true negative). To calculate these parameters, direct sequencing of 8 amplicons, containing at least one variant (S2 Table), was performed as previously described [8,10].…”

Advancing heart failure management: A comparative analysis of Ivabradine and Sacubitril / valsartan

“…Also, individuals with severe liver impairment that increases the risk of accumulation and bradycardia should not use ivabradine. For mild to severe hepatic impairment, however, there is currently no dose modification used [21] .…”