Abstract
Congenital heart disease (CHD) is a group of anatomic malformations in the heart with high morbidity and mortality. The mammalian heart is a complex organ, the formation and development of which are strictly regulated and controlled by gene regulatory networks of many signaling pathways such as TGF-β. KAT2B is an important histone acetyltransferase epigenetic factor in the TGF-β signaling pathway, and alteration in the gene is associated with the etiology of cardiovascular diseases. The aim of this work was to validate whether KAT2B variations might be associated with CHD. We sequenced the KAT2B gene for 400 Chinese Han CHD patients and evaluated SNPs rs3021408 and rs17006625. The statistical analyses and Hardy–Weinberg equilibrium tests of the CHD and control populations were conducted by the software SPSS (version 19.0) and PLINK. The experiment-wide significance threshold matrix of LD correlation for the markers and haplotype diagram of LD structure were calculated using the online software SNPSpD and Haploview software. We analyzed the heterozygous variants within the CDS region of the KAT2B genes and found that rs3021408 and rs17006625 were associated with the risk of CHD.
Highlights
Congenital heart disease (CHD) is a group of anatomic malformations in the heart and is the most common type of birth defects with high morbidity and mortality [1]
We found that rs3021408 and rs17006625 in the coding sequence (CDS) region of lysine acetyltransferase 2B (KAT2B) gene were associated with the risk of CHDs
We recruited the participants from the First, Second and Fourth Affiliated Hospitals of Harbin Medical University and confirmed the clinical diagnosis for each of the patients. They had no history or manifestations of any other disease or systemic abnormalities except CHDs. We established that their mothers did not take medications or attract infections during her gestation, because such factors have been reported to be associated with heart malformation in pregnancy [29,30]
Summary
Congenital heart disease (CHD) is a group of anatomic malformations in the heart and is the most common type of birth defects with high morbidity and mortality [1]. Many CHDs are complicated by arrhythmias or heart failure or both [4]. The worldwide prevalence of CHD ranges from 1 to 150 per 1000 neonates [5,6], about 1% of which requires clinical intervention [7]. CHDs are multifactorial heart diseases, involving many genetic variations in development, mostly not of the Mendel’s inheritance mode [8,9], including chromosomal variants such as the 22q11 deletion [6,10]. Numerous genetic defects have been reported for their associations with sporadic or familial CHD cases, leading to better understanding of CHDs [11,12], but the genetic abnormalities of etiological significance for most CHDs remain largely unknown
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
