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.

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 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

Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5

2019 ◽  
Vol 133 (12) ◽  
pp. 1281-1295 ◽  
Author(s):  
Xiaobo Gao ◽  
Panpan Zheng ◽  
Liping Yang ◽  
Haiyan Luo ◽  
Chen Zhang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Genetic Variation ◽  
Heart Disease ◽  
Congenital Heart ◽  
Mrna Level ◽  
Luciferase Assay ◽  
Genetic Mutations ◽  
Control Group ◽  
Coding Region ◽  
Case Control Studies

Abstract GDF1 plays an important role in left–right patterning and genetic mutations in the coding region of GDF1 are associated with congenital heart disease (CHD). However, the genetic variation in the promoter of GDF1 with sporadic CHD and its expression regulation is little known. The association of the genetic variation in GDF1 promoter with CHD was examined in two case–control studies, including 1084 cases and 1198 controls in the first study and 582 cases and 615 controls in the second study. We identified one single nucleotide polymorphism (SNP) rs181317402 and two novel genetic mutations located in the promoter region of GDF1. Analysis of combined samples revealed a significant association in genotype and allele frequencies of rs181317402 T/G polymorphism between CHD cases in overall or ventricular septal defects or Tetralogy of Fallot and the control group. rs181317402 allele G polymorphism was significantly associated with a decreased risk of CHD. Furthermore, luciferase assay, chromatin immunoprecipitation and DNA pulldown assay indicated that Nkx2.5 transactivated the expression of GDF1 by binding to the promoter of GDF1. Luciferase activity assay showed that rs181317402 allele G significantly increased the basal and Nkx2.5-mediated activity of GDF1 promoter, while the two genetic mutations had the opposite effect. rs181317402 TG genotype was associated with significantly increased mRNA level of GDF1 compared with TT genotype in 18 CHD individuals. Our results demonstrate for the first time that Nkx2.5 acts upstream of GDF1 and the genetic variants in GDF1 promoter may confer genetic susceptibility to sporadic CHD potentially by altering its expression.

Abstract 18744: Rising Costs of Adult Congenital Heart Disease Care: Does Gender Matter?

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
David A Briston ◽  
Elisa Bradley ◽  
Aarthi Sabanayagam ◽  
Ali N Zaidi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Adult Congenital Heart Disease ◽  
Age Groups ◽  
The United States ◽  
Hospital Discharges ◽  
Gender And Age ◽  
Adult Congenital ◽  
Gender Based

Introduction: The profile of congenital heart disease (CHD) has shifted, now with more adults than children who have survived. Few studies have provided a global assessment of adult congenital heart disease (ACHD) healthcare cost in the United States. Methods: Data from the National Inpatient Sample (2002-2012) utilizing diagnostic ICD-9 codes for moderate and complex ACHD were analyzed. Hospital discharges, total billed and reimbursed amounts, gender and age disparities were evaluated. Results: There was an overall increase in ACHD discharges (Moderate CHD: 4,742 vs. 6,545, Severe CHD: 807 vs. 1,115), billed and reimbursed dollar amounts (Billed: $542,703,961 vs. $1,506,945,042, +178%; reimbursed: $221,417,779 vs. $432,797,543, +95%). Women had more discharges in 2002 but not in 2012 (men: women, 2002: 6,503 vs. 7,805; 2012: 7,715 vs. 7,200) [Figure 1A]. Gender-based billed amounts followed a similar trend (2002: $262,918,357 vs. $279,785,604; 2012: $844,923,857 vs. $$662,021,185; p=0.006) as did total reimbursed (2002: $107,766,175 vs. $113,651,604; 2012: $243,183,638 vs. $189,613,905, p=0.008) [Figure 1B,C]. Healthcare expenditure increased across all age groups: this was most prominent in the > 44 vs. 18-44 yr. group (Billed: $617,589,813 vs. $346,652,267, p<0.001; reimbursed: $136,013,528 vs. $75,366,237, p<0.001). Conclusions: We are the first to report a change in the rate of gender-based ACHD hospitalizations, whereby men now account for more hospitalizations in the U.S. As ACHD discharges, billed and reimbursed amounts continue to rise over the last decade, we are also the first to demonstrate increased expenditure in older (> 44 yrs.) ACHD patients, a pattern that we predict will continue to grow and requires future investigation.

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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