%0 Journal Article
%T Association of Genetic Variation in Calmodulin and Left Ventricular Mass in Full-Term Newborns
%A Iwona Gor£¿cy
%A Jaros£¿aw Gor£¿cy
%A Karolina Skonieczna-£¿ydecka
%A Mariusz Kaczmarczyk
%A Gra£¿yna Dawid
%A Andrzej Ciechanowicz
%J International Journal of Genomics
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/410407
%X Calmodulin II (CALM2) gene polymorphism might be responsible for the variation in the left ventricular mass amongst healthy individuals. The aim was to evaluate the correlation between left ventricular mass (LVM) and g.474955027G>A (rs7565161) polymorphism adjacent to the CALM2 gene. Healthy Polish newborns (n = 206) were recruited. Two-dimensional M-mode echocardiography was used to assess LVM. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing analyses. The carriers of the G allele of the CALM2 polymorphism had significantly higher left ventricular mass/weight (LVM/BW) values, when compared with newborns homozygous for the A allele (3.1£¿g/m2 versus 2.5£¿g/m2, = 0.036). The AG genotype of CALM2 was associated with the highest values of LVM/BW, exhibiting a pattern of overdominance (2.9£¿g/kg versus 3.1£¿g/kg versus 2.5£¿g/kg, = 0.037). The results of this study suggest that G>A CALM2 polymorphism may account for subtle variation in LVM at birth. 1. Introduction Left ventricular hypertrophy (LVH) and increased left ventricular mass (LVM) are strong risk factors for cardiovascular disease and morbidity [1]. Cardiac hypertrophy is characterized by increased cell size, cardiac remodeling of myofilaments, and increased expression of fetal genes [2]. LVM results from a complex of interaction between genetic, environmental, and lifestyle factors. Increased knowledge concerning genes involved in the modulation of LVM will lead to a better understanding of the etiopathogenesis of LVH. Calcium (Ca2+) is arguably the most important messenger in cardiac muscle and plays a central role in regulating contractility, gene expression, hypertrophy, and apoptosis. It has been well described that Ca2+ transient movements regulate the transcription and gene expression that characterize the hypertrophic response of cardiomyocytes [2, 3]. The levels of Ca2+ are precisely controlled. A major sensor and mediator of intracellular Ca2+ transient movements is calmodulin (CaM). The Ca2+CaM complex binds and activates enzymes, including protein kinases, protein phosphatases, phospholipases, nitric oxide synthases, and endonucleases. Three Ca2+ calmodulin dependent enzymes have significant roles in cardiac function: Ca2+ calmodulin-dependent protein kinase (CaMK), protein phosphatase 2B (calcineurin, CaN), and myosin light-chain kinase (MLCK). CaMK and CaN have been shown to play key and often synergistic roles in transcriptional regulation in cardiomyocytes [4]. It has been suggested that CaMK regulates gene expression via
%U http://www.hindawi.com/journals/ijg/2013/410407/