RS11665469, RS724256, RS754505 SINGLE NUCLEOTIDE POLYMORPHISMS OF NFATC1 GENE AND RS2229309 OF NFATC4 GENE IN CHILDREN WITH BICUSPID AORTIC VALVE
DOI:
https://doi.org/10.11603/24116-4944.2017.2.7806Keywords:
single nucleotide polymorphisms, children, congenital heart diseases, bicuspid aortic valve, genotyping.Abstract
The aim of the study – to reveal the distribution of genotypes in the polymorphisms rs7240256, rs11665469, rs754505 of the NFATC1 gene and rs 2229309 of the NFATC4 gene in children with a bicuspid aortic valve of the heart (BAV) and other congenital heart defects (CHD) without cardiac valve anomalies.
Materials and Methods. Genotyping with determination of these polymorphisms in 39 children with diagnosed BAV, in 42 children with CHD without valve anomalies and 51 children in the control group was conducted. The distribution of genotypes was checked for compliance with the Hardy-Weinberg test using the χ 2 criterion.
Results and Discussion. In the polymorphism rs754505 of the NFATC1 gene the homozygous genotypes dominated in 90 % of cases (92.68 %, 90 % and 87.1 %, respectively, p > 0.05). In the distribution of the genotypes of polymorphism rs7240256 of the NFATC1 gene the prevalence of the homozygous TT genotype was observed in BAV patients as compared to CT (58.97 % and 28.20 %, respectively, p <0.05) and CC (58.97 % and 20.51 %, respectively, p <0.05). When the genotypes of the gene polymorphism rs11665469 of the NFATC1 gene were distributed, the homozygous genotypes dominated in children with BAV and CHD (76.85 % and 66.6 %, respectively, p <0.05), and the TT genotype predominated in patients with BAV against control (17.95 % and 1.96 % respectively, p <0.05), and the CHD (17.95 % and 4.76 % respectively, p <0.05). In the BAV group the Hardy-Weinberg test had the significant differences (χ2 = 12.91, p = 0.002). In the polymorphism rs2229309 of the NFATC4 gene in children with BAV the homozygous genotypes predominated due to an increase in the relative frequency of the GG genotype.
Conclusions. There was established a prevailing of homozygous genotype in rs7240256 and rs11665469 polymorphisms with prevailing of the TT genotype in children with BAV and prevailing of relative frequency of GG genotype in rs2229309 polymorphism of NFATC4 gene.
References
Ida Gjervold Lunde (2011). Molecular mechanisms of heart failure; Nuclear Factor of Activated T-cell (NFAT) signaling in myocardial hypertrophy and dysfunction: dissertation for the degree of Philosophiae Doctor (PhD). Ida Gjervold Lunde. University of Oslo: Oslo, Norway. Series of dissertations ubmitted to the Faculty of Medicine, University of Oslo, No. 1307.
Serfling, Edgar, Avots, Andris, & Klein-Hessling, Stefan, (2012). NFATc1/αA: The other Face of NFAT Factors in lymphocytes. Cell Communication and Signaling, 10, 16.
Wu, Bingruo, Baldwin, Scott, H., & Zhou. Bin, (2013).
Nfatc1 directs the endocardial progenitor cells to make heart valve primordium. Trends in Cardiovascular Medicine, 23 (8), 294-300.
Lin, C.J., Lin, C.Y., Chen, C.H., Zhou, B., & Chang, C.P. (2012). Partitioning the heart: mechanisms of cardiac septation and valve development. Development, 139, 3277-3299.
Rajapurohitam, V., Izaddoustdar, F., & Martinez-Abundis, E.
(2012). Leptin-induced cardiomyocyte hypertrophy reveals both calcium-dependent and calcium-independent/RhoA-dependent calcineurin activation and NFAT nuclear translocation. Cell Signal., 24 (12), 2283-2290.
Hanedan Onan, S., Baykan, A., Sezer, S., Narin, F., Mavil, E., Baykan, Z., … Uzum, K., (2016). Evaluation of cardiovascular changes in children with BAVS. Pediatr. Cardiol., 37 (3), 472-
Epub 2015 Nov 20.
Petit, C.J., Gao, K., Goldstein, B.H., Lang, S.M., & Gillespie, S.E. (2016). Relation of aortic valve morphologic characteristics to aortic valve insufficiency and residual stenosis in children with congenital aortic stenosis undergoing balloon valvuloplasty. Am. J. Cardiol., 117 (6), 972.
Abdul-Sater, Z., Yehya, A., Beresian, J., Salem, E., Kamar, A., & Baydoun, S. (2012). Two heterozygous mutations in NFATC1 in a patient with tricuspid atresia. PLoS ONE., 7 (11). e49532. doi:10.1371/journal.pone.0049532
Downloads
Published
How to Cite
Issue
Section
License
Authors who publish in this journal agree to the following terms:
1. The authors reserve the right to authorship of the work and pass the journal right of first publication of this work is licensed under a Creative Commons Attribution License, which allows others to freely distribute the work published with reference to the authors of the original work and the first publication of this magazine.
2. Authors are entitled to enter into a separate agreement on additional non-exclusive distribution of work in the form in which it was published in the magazine (eg work place in the electronic repository institution or publish monographs in part), provided that the reference to the first publication of this magazine.
3. Policy magazine allows and encourages authors placement on the Internet (eg, in storage facilities or on personal websites) manuscript of how to submit the manuscript to the editor and during his editorial processing, since it contributes to productive scientific discussion and positive impact on the efficiency and dynamics of citing published work (see. The Effect of Open Access).
