scholarly journals Purpose-designed gene panel identifies genetic variants associated with adverse neurodevelopment outcomes in neonates with congenital heart disease

2017 ◽  
Vol 53 ◽  
pp. 11-11
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Gene Panel

scholarly journals Associations between Two Genetic Variants in NKX2-5 and Risk of Congenital Heart Disease in Chinese Population: A Meta-Analysis

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e70979 ◽  
Author(s):  
Zhenling Wang ◽  
Li Zou ◽  
Rong Zhong ◽  
Beibei Zhu ◽  
Wei Chen ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Chinese Population ◽  
Congenital Heart ◽  
Meta Analysis

scholarly journals Genetic variants reducing MTR gene expression increase the risk of congenital heart disease in Han Chinese populations

2013 ◽  
Vol 35 (11) ◽  
pp. 733-742 ◽  
Author(s):  
J.-Y. Zhao ◽  
B. Qiao ◽  
W.-Y. Duan ◽  
X.-H. Gong ◽  
Q.-Q. Peng ◽  
...  
Keyword(s):  
Gene Expression ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Han Chinese ◽  
Chinese Populations

scholarly journals Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Yuan Lin ◽  
Chenyue Ding ◽  
Kai Zhang ◽  
Bixian Ni ◽  
Min Da ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Han Chinese

scholarly journals Association of Maternal Diabetes Mellitus and Polymorphisms of the NKX2.5 Gene in Children with Congenital Heart Disease: A Single Centre-Based Case-Control Study

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Mingyi Zhao ◽  
Jingyi Diao ◽  
Peng Huang ◽  
Jinqi Li ◽  
Yihuan Li ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Children ◽  
Nucleotide Polymorphisms ◽  
Control Study

Background. Congenital heart disease (CHD) is one of the most common birth defects among newborns, accounting for a large proportion of infant mortality worldwide. However, the mechanisms remain largely undefinable. This study aimed to investigate the association of CHD in offspring of mothers with diabetes mellitus (DM) and single nucleotide polymorphisms (SNPs) of NKX2.5. Methods and Results. A case-control study of 620 mothers of CHD patients and 620 mothers of healthy children admitted to Hunan Children’s Hospital from November 2017 to December 2019 was conducted. We collected the mothers’ information by questionnaire and detected children’s NKX2.5 variants with a MassARRAY system. The interaction coefficient (γ) was used to quantify the estimated gene-environment interactions. Univariate and multivariate analyses both showed that the infants had a higher risk of CHD if their mothers had a history of DM, including gestational DM (GDM) during this pregnancy (adjusted odds ratio [aOR=4.98]), GDM in previous pregnancies (aOR=4.30), and pregestational DM (PGDM) in the 3 months before this pregnancy (aOR=6.78). Polymorphisms of the NKX2.5 gene at rs11802669 (C/C vs. T/T: aOR=4.97; C/T vs. T/T: aOR=2.15) and rs2277923 (T/T vs. C/C, aOR=1.74; T/C vs. C/C, aOR=1.61) were significantly associated with the risk of CHD in offspring. In addition, significant interactions between maternal DM and NKX2.5 genetic variants at rs11802669 (aOR=8.12) and rs2277923 (aOR=17.72) affecting the development of CHD were found. Conclusions. These results suggest that maternal DM, NKX2.5 genetic variants, and their interactions are significantly associated with the risk of CHD in offspring.

scholarly journals Upregulated of TBX1 by genetic variants are associated with human congenital heart disease

2021 ◽  
Author(s):  
Liwei Yu ◽  
Binbin Li ◽  
Hongyan Wang
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Protein Function ◽  
Congenital Heart ◽  
Protein S ◽  
Dependent Manner ◽  
Functional Studies ◽  
Childhood Morbidity ◽  
Chd Risk

Congenital heart disease (CHD) is the most common human birth defect worldwide and also an important cause of childhood morbidity and mortality. The transcription factor of TBX1 early expressed in embryonic cardiac progenitor cells underlys embryo cardiogenesis in a dosage-dependent manner. Imbalanced TBX1 level has been shown to lead to cardiac defects. To study the association of TBX1 genetic variants with CHD susceptibility, we screened genetic variants in 409 CHD patients and 203 healthy controls. One single nucleotide polymorphism (SNP), rs41260844, in TBX1 promotor region was identified to be associated with CHD. Functional studies showed the minor allele of rs41260844 is associated with higher CHD risk and increases TBX1 promoter activity through attenuating TBX1 promoter binding affinity with nuclear protein(s). In addition, a novel case-specific missense rare mutation of p.P164L in TBX1 T-box domain was identified and predicted as deleterious mutation, which showed a trend of increased protein function. In summary, we concluded that a higher TBX1 expression level or activity is associated with CHD susceptibility, which could affect TBX1 downstream targets and thus disrupt the balance of the complex regulation network during cardiogenesis. This study deepens our current understanding of embryo cardiogenesis and CHD etiology.

Abstract P331: Upregulated TBX1 by genetic variants are associated with human congenital heart disease

2021 ◽  
Vol 129 (Suppl_1) ◽  
Author(s):  
Liwei Yu ◽  
Binbin Li ◽  
Hongyan Wang
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Heart Development ◽  
Congenital Heart ◽  
Minor Allele ◽  
Expression Level ◽  
Cardiac Progenitors ◽  
Rare Mutation ◽  
The Impact

Congenital heart disease (CHD) is the most common human birth defect worldwide. The cause of CHD is so far not well understood. Uncovering genetic factors leading to CHD is still a pressing task to be solved. TBX1 is one of the transcription factors early expressed in embryonic cardiac progenitors. In animal models, imbalanced TBX1 activity leads to cardiac defects. Given the dosage effect of TBX1, it is possible that genetic variant altering TBX1 function or expression level would affect heart development and contribute to CHD. In order to study the association of genetic variants of TBX1 and CHD susceptibility, we performed genetic screening in 409 CHD patients and 213 healthy controls. Bioinformatic and in vitro functional studies were performed to evaluate the impact of genetic variants. One single nucleotide polymorphism (SNP), rs41260844, in TBX1 promoter region was identified to be associated with CHD. The minor allele of rs41260844 is associated with higher CHD risk and shows increased TBX1 promoter activity (Fig A). Further study showed the minor allele attenuates TBX1 promoter binding affinity with nuclear protein(s) (Fig B). In addition, a novel case-specific missense rare mutation, p.P164L, in T-box domain was identified and predicted as a deleterious mutation. Functional analysis showed a trend of increased TBX1 function with the rare mutation. In summary, we concluded that a higher TBX1 expression level or activity is associated with CHD susceptibility, which could affect TBX1 downstream targets and thus disrupt the balance of the complex regulation network during cardiogenesis.

Implication of rare genetic variants of NODAL and ACVR1B in Congenital Heart Disease patients from Indian Population

2021 ◽  
pp. 112869
Author(s):  
Manohar Lal Yadav ◽  
Prashant Ranjan ◽  
Parimal Das ◽  
Dharmendra Jain ◽  
Ashok Kumar ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Indian Population ◽  
Rare Genetic Variants
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