Characterization of nodal/TGF-lefty signaling pathway gene variants for possible roles in congenital heart diseases.
Characterization of nodal/TGF-lefty signaling pathway gene variants for possible roles in congenital heart diseases.
复制标题
DOI：
10.1371/journal.pone.0104535
复制
发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Liu SL
中科院分区：
文献类型：
--
作者：
Deng X;Zhou J;Li FF;Yan P;Zhao EY;Hao L;Yu KJ;Liu SL
Nodal/TGF-Lefty信号通路在人胚胎干细胞分化的早期阶段具有重要作用，指导其分化为不同的胚胎谱系。LEFTY是Nodal/TGF-Lefty信号通路中的一种转化生长因子，在心脏发育过程中起重要作用。这项工作的目的是寻找证据，是否左撇子的变化与先天性心脏病（CHD）。我们对230例中国汉族CHD患者的Lefty基因进行测序，并评估位于基因翻译区的SNPs rs 2295418、rs360057和g.G169A。使用SPSS（版本13.0）中执行的卡方检验进行统计分析。使用在线软件OEGE进行群体的Hardy-Weinberg平衡检验，并使用Vector NTI软件进行LEFTY蛋白的多序列比对。在Lefty 1基因中鉴定出2个杂合变异体，g.G169A和g.A1035C，在Lefty 2基因中鉴定出1个杂合变异体，g.C925A。统计学分析显示，Lefty 2基因rs 2295418（g.C925A）变异与冠心病的危险性显著相关（P值= 0.016<0.05）。 Lefty 1基因rs360057（g.A1035C）变异基因型频率与冠心病的危险性相关（P值= 0.007<0.05），而等位基因频率与冠心病的危险性无关（P值= 0.317>0.05）。 Lefty 2基因rs 2295418单核苷酸多态性与中国汉族人群冠心病相关
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). We 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. Two 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). The SNP rs2295418 in the Lefty2 gene is associated with CHD in Chinese Han populations.
登录
查看更多内容
影响因子：
5.6
作者：
Malchenko, Sergey;Galat, Vasiliy;Seftor, Elisabeth A.;Vanin, Elio F.;Costa, Fabricio F.;Seftor, Richard E. B.;Soares, Marcelo B.;Hendrix, Mary J. C.
通讯作者：
Hendrix, Mary J. C.
影响因子：
1.9
作者：
Richards AA;Garg V
通讯作者：
Garg V
影响因子：
4.8
作者：
Barroso-delJesus, Alicia;Lucena-Aguilar, Gema;Menendez, Pablo
通讯作者：
Menendez, Pablo
影响因子：
3.8
作者：
Costa FF;Seftor EA;Bischof JM;Kirschmann DA;Strizzi L;Arndt K;Bonaldo Mde F;Soares MB;Hendrix MJ
通讯作者：
Hendrix MJ
影响因子：
5.2
作者：
Dvash, Tamar;Sharon, Nadav;Benvenisty, Nissim
通讯作者：
Benvenisty, Nissim