scholarly journals ISL1 Common Variant rs1017 Is Not Associated with Susceptibility to Congenital Heart Disease in a Chinese Population

2012 ◽  
Vol 16 (7) ◽  
pp. 679-683 ◽  
Author(s):  
Lei Xue ◽  
Xiaowei Wang ◽  
Jing Xu ◽  
Xiaohan Xu ◽  
Xiang Liu ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chinese Population ◽  
Congenital Heart ◽  
Common Variant

scholarly journals Association of Two Variants in SMAD7 with the Risk of Congenital Heart Disease in the Han Chinese Population

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e72423 ◽  
Author(s):  
Erli Wang ◽  
Wenfei Jin ◽  
Wenyuan Duan ◽  
Bin Qiao ◽  
Shuna Sun ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chinese Population ◽  
Congenital Heart ◽  
Han Chinese ◽  
Han Chinese Population

scholarly journals The MALAT1 gene polymorphism and its relationship with the onset of congenital heart disease in Chinese

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Qian Li ◽  
Wenying Zhu ◽  
Bei Zhang ◽  
Yiping Wu ◽  
Sen Yan ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chinese Population ◽  
Congenital Heart ◽  
Additive Model ◽  
Luciferase Assay ◽  
Nucleotide Polymorphisms ◽  
Tag Snps ◽  
Gender And Age ◽  
Functional Investigation

Many long non-coding RNAs (lncRNAs), including lncRNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), are involved in various cardiac diseases. We evaluated the effects of tag single nucleotide polymorphisms (tag-SNPs) on MALAT1 gene in a Chinese population of children with congenital heart disease (CHD). In the present study, 713 CHD patients and 730 gender- and age-matched children without CHD were genotyped for MALAT1 tag-SNPs rs11227209, rs619586, and rs3200401. Further investigation of SNP’s function was performed by luciferase assay. Statistical analyses, including uni- and multivariate logistic regression were performed to quantitate the association between these tag SNPs and CHD. We discovered that MALAT1 rs619586 GG allele was significantly associated with lower risk of CHD (odds ratio (OR) = 0.77, 95% confidence interval (CI) = 0.59–0.92, P=0.014) in additive model. Functional investigation indicated that G allele of rs619586 could trigger higher expression of MALAT1. We demonstrated that the functional MALAT1 polymorphism rs619586 A>G was significantly associated with CHD susceptibility in Chinese population, potentially via regulating MALAT1 expression.

Association Between Single-Nucleotide Polymorphisms of NKX2.5 and Congenital Heart Disease in Chinese Population: A Meta-Analysis

2021 ◽  
Author(s):  
Huan Chen ◽  
Tianjiao Li ◽  
Yuqing Wu ◽  
Xi Wang ◽  
Mingyuan Wang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Single Nucleotide Polymorphism ◽  
Heart Disease ◽  
Chinese Population ◽  
Congenital Heart ◽  
Meta Analysis ◽  
Coding Region ◽  
Nucleotide Polymorphism ◽  
China National Knowledge Infrastructure ◽  
Single Nucleotide

Abstract Background: NKX2.5 is a transcription factor that plays a key role in cardiovascular growth and development. Many independent studies have been conducted to investigate the association between the single nucleotide polymorphism 606G>C (rs3729753) in the coding region of NKX2.5 and congenital heart disease (CHD), although the results were inconsistent. This study aimed to reveal as much as possible the relationship between NKX2.5 single nucleotide polymorphism 606G>C and the risk of congenital heart disease in the Chinese population through meta-analysis.Methods and Results: After retrieving related articles in PubMed, MEDLINE, EMBASE, Web of science, Coherane, China National Knowledge Infrastructure (CNKI), Wanfang DATA, VIP database until Aug 2021, a total of 8 studies were finally included. Then, we merged the qualified research data into allele model, dominant model, recessive model, heterozygous model, homozygous model, additive model respectively. Overall meta-analysis results showed that 606G>C was not associated with congenital heart disease of the Chinese population in any model. Also, subgroup analysis based on congenital heart disease type gave the same negative result. Sensitivity analysis showed that there was no significant correlation after the deletion of each study. The results were negative and the heterogeneity was not significant.Conclusion: Our results show that NKX2-5 single nucleotide polymorphism 606G> C may not lead to the risk of congenital heart disease in Chinese.

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