Abstract
BackgroundNodal/TGF-Lefty signaling pathway has important effects at early stages of differentiation of human embryonic stem cells in directing them to differentiate into different embryonic lineages. LEFTY, one of transforming growth factors in the Nodal/TGF-Lefty signaling pathway, plays an important role in the development of heart. The aim of this work was to find evidence on whether Lefty variations are associated with congenital heart diseases (CHD).MethodsWe sequenced the Lefty gene for 230 Chinese Han CHD patients and evaluated SNPs rs2295418, rs360057 and g.G169A, which are located within the translated regions of the genes. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 13.0). The Hardy-Weinberg equilibrium test of the population was carried out using online software OEGE, and multiple-sequence alignments of LEFTY proteins were carried out using the Vector NTI software.ResultsTwo heterozygous variants in Lefty1 gene, g.G169A and g.A1035C, and one heterozygous variant in Lefty2 gene, g.C925A, were identified. Statistical analyses showed that the rs2295418 (g.C925A) variant in Lefty2 gene was obviously associated with the risk of CHD (P value = 0.016<0.05). The genotype frequency of rs360057 (g.A1035C) variant in Lefty1 gene was associated with the risk of CHD (P value = 0.007<0.05), but the allele frequency was not (P value = 0.317>0.05).ConclusionsThe SNP rs2295418 in the Lefty2 gene is associated with CHD in Chinese Han populations.
Highlights
Congenital heart diseases (CHD) are a group of common and complex illnesses with high morbidity and mortality
We found that the rs2295418 (g.C925A) variant in the Lefty2 gene was closely associated with the risk of congenital heart diseases (CHD)
There was no history of other systemic abnormalities in these CHD patients, and their mothers did not have a history of taking medicines or attracting infections during pregnancy
Summary
Congenital heart diseases (CHD) are a group of common and complex illnesses with high morbidity and mortality. If tiny muscular ventricular septal defects and other trivial lesions are included, the total incidence is about 75/1,000 of live births [2]. Extensive genetic studies and high-resolution technologies have revealed the genetic defects in many familiar and sporadic CHD cases [6,7], the genetic abnormalities in the majority of CHD patients remain largely unknown. Nodal/TGF-Lefty signaling pathway has important effects at early stages of differentiation of human embryonic stem cells in directing them to differentiate into different embryonic lineages. LEFTY, one of transforming growth factors in the Nodal/TGF-Lefty signaling pathway, plays an important role in the development of heart. The aim of this work was to find evidence on whether Lefty variations are associated with congenital heart diseases (CHD)
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