Genome-wide compound heterozygosity analysis highlighted 4 novel susceptibility loci for congenital heart disease in Chinese population

2018 ◽  
Vol 94 (3-4) ◽  
pp. 296-302 ◽  
Author(s):  
T. Jiang ◽  
M. Huang ◽  
T. Jiang ◽  
Y. Gu ◽  
Y. Wang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chinese Population ◽  
Congenital Heart ◽  
Compound Heterozygosity ◽  
Susceptibility Loci ◽  
Genome Wide

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.

Sign in / Sign up

Export Citation Format

Share Document