Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension

Abstract

Nonstandard abbreviations used: large conductance, Ca 2+ -dependent K + (BK); conductance (G); diastolic blood pressure (DBP); odds ratio (OR); open probability (PO).

E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients

“…Allelic frequencies (0.1037 and 0.1224 for the K allele in parents and offspring, respectively) were similar to those previously described (Ferna´ndez-Ferna´ndez et al 2004;Kokubo et al 2005).…”

“…A hypothesis on the possible association between the E65 K polymorphism in the KCNMB1 gene and IHD risk has arisen due to recent results on the relationship between this polymorphism and the severity of diastolic hypertension (Ferna´ndez-Ferna´ndez et al 2004). Other studies, such as published associations between variants of the KCNMB1 gene and heart rate and baroreflex function seem to give additional indirect support to that hypothesis (Gollasch et al 2002).…”

“…Recently, an interesting association between a new single-nucleotide substitution (G352A) in the KCNMB1 gene and diastolic hypertension has been shown in a sample of Spanish subjects (Ferna´ndez-Ferna´ndez et al 2004). This mutation yields a glutamic acid-to-lysine change at codon 65 (E65 K).…”

KCNMB1 genotype influences response to verapamil SR and adverse outcomes in the INternational VErapamil SR/Trandolapril STudy (INVEST)

“…The large-conductance calcium and voltage-dependent potassium (BK) channel found in vascular smooth muscle is comprised of pore-forming-α and regulatory-β1 subunits [1]. The BK channel, particularly the β1 subunit, functions in a negative feedback mechanism to enhance calcium sensitivity, decrease cell excitability, and limit smooth muscle contraction [1].…”

“…The BK channel, particularly the β1 subunit, functions in a negative feedback mechanism to enhance calcium sensitivity, decrease cell excitability, and limit smooth muscle contraction [1]. The gene that encodes the β1 subunit of the BK channel is KCNMB1, located on chromosome 5q34.…”