<i>TCF21</i> rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population

Yang, Liping; Gao, Xiaobo; Luo, Haiyan; Huang, Qiuyu; Su, Dongmei; Tan, Xinyu; Lu, Cailing

doi:10.1089/gtmb.2016.0324

Cited by 9 publications

(10 citation statements)

References 32 publications

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“…Ventricular septal defect (VSD) is one of the most common types of congenital heart disease. Recent research has shown that allele G at variant rs12190287 is a contributing risk factor for VSD in the Chinese population (Yang et al, 2017). Together, all these data indicated that TCF21 might confer genetic susceptibility to cardiovascular disease.…”

Section: Tcf21 and Other Cardiovascular Diseasementioning

confidence: 86%

The Role of Transcription Factor 21 in Epicardial Cell Differentiation and the Development of Coronary Heart Disease

Shen

Wang

et al. 2020

Front. Cell Dev. Biol.

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Transcription factor 21 (TCF21) is specific for mesoderm and is expressed in the embryos' mesenchymal derived tissues, such as the epicardium. It plays a vital role in regulating cell differentiation and cell fate specificity through epithelial-mesenchymal transformation during cardiac development. For instance, TCF21 could promote cardiac fibroblast development and inhibit vascular smooth muscle cells (VSMCs) differentiation of epicardial cells. Recent large-scale genome-wide association studies have identified a mass of loci associated with coronary heart disease (CHD). There is mounting evidence that TCF21 polymorphism might confer genetic susceptibility to CHD. However, the molecular mechanisms of TCF21 in heart development and CHD remain fundamentally problematic. In this review, we are committed to providing a detailed introduction of the biological roles of TCF21 in epicardial fate determination and the development of CHD.

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Section: Tcf21 and Other Cardiovascular Diseasementioning

confidence: 86%

The Role of Transcription Factor 21 in Epicardial Cell Differentiation and the Development of Coronary Heart Disease

Shen

Wang

et al. 2020

Front. Cell Dev. Biol.

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“…While the impact of Tcf21 regulation by microRNAs has not been reported to date during embryonic development, it is important to highlight that several examples of Tcf21-microRNA modulation has been reported in cardiac physiopathological conditions. In Caucasian and East Asian populations, an SNP (rs12190287) in the 3′UTR region of Tcf21 prevents miR-224 binding, resulting in impaired Tcf21 expression, a condition related to the development of alterations in the ventricular septum of the heart [ 218 ]. A deregulation of Tcf21 produced at this SNP has also been associated with the risk of coronary heart disease [ 219 , 220 , 221 ].…”

Section: Post-transcriptional Control Of Proepicardium/epicardium For...mentioning

confidence: 99%

Post-Transcriptional Regulation of Molecular Determinants during Cardiogenesis

Lozano-Velasco

García-Padilla

Muñoz-Gallardo

et al. 2022

IJMS

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Cardiovascular development is initiated soon after gastrulation as bilateral precardiac mesoderm is progressively symmetrically determined at both sides of the developing embryo. The precardiac mesoderm subsequently fused at the embryonic midline constituting an embryonic linear heart tube. As development progress, the embryonic heart displays the first sign of left-right asymmetric morphology by the invariably rightward looping of the initial heart tube and prospective embryonic ventricular and atrial chambers emerged. As cardiac development progresses, the atrial and ventricular chambers enlarged and distinct left and right compartments emerge as consequence of the formation of the interatrial and interventricular septa, respectively. The last steps of cardiac morphogenesis are represented by the completion of atrial and ventricular septation, resulting in the configuration of a double circuitry with distinct systemic and pulmonary chambers, each of them with distinct inlets and outlets connections. Over the last decade, our understanding of the contribution of multiple growth factor signaling cascades such as Tgf-beta, Bmp and Wnt signaling as well as of transcriptional regulators to cardiac morphogenesis have greatly enlarged. Recently, a novel layer of complexity has emerged with the discovery of non-coding RNAs, particularly microRNAs and lncRNAs. Herein, we provide a state-of-the-art review of the contribution of non-coding RNAs during cardiac development. microRNAs and lncRNAs have been reported to functional modulate all stages of cardiac morphogenesis, spanning from lateral plate mesoderm formation to outflow tract septation, by modulating major growth factor signaling pathways as well as those transcriptional regulators involved in cardiac development.

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“…According to linkage disequilibrium via Haploview and previous studies, we selected three reported SNPs in TCF21 (rs2327429 T>C, rs2327433 A>G and rs12190287 C>G). 18,22 Circulating leukocytes in patients with 224 PAF patients and 92 controls were collected for DNA extraction by phenol chloroform. We performed genotyping with the selected SNPs in the samples with TaqMan allelic discrimination via ABI 7900HT (Applied Biosystems, Foster City, CA, USA).…”

Section: Snps Selection and Dna Genotypingmentioning

confidence: 99%

“…[15][16][17] Furthermore, TCF21 rs12190287 polymorphisms also conferred predisposition to ventricular septal defects in a Chinese population. 18 Genetic variants could contribute to the AF pathology by affecting the expression and function of proteins responsible for various cellular activities. Therefore, given the marked effect of TCF21 in cardiovascular diseases, we hypothesized that TCF21 may play an important role in the AF pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

Association Between TCF21 Gene Polymorphism with the Incidence of Paroxysmal Atrial Fibrillation and the Efficacy of Radiofrequency Ablation for Patients with Paroxysmal Atrial Fibrillation

Zhang¹,

Huang²,

Li³

et al. 2022

IJGM

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Atrial fibrillation (AF) is the most common sustained arrhythmia with a high rate of recurrence after catheter ablation. The gene encoding transcription factor 21 (TCF21) has been linked to coronary artery disease risk by human genome-wide association studies in multiple racial ethnic groups. However, the association of TCF21 with AF remains unclear. Patients and Methods: Circulating leukocytes in patients with paroxysmal AF (PAF) and 92 age-matched controls without a history of cardiovascular disease, AF and other arrhythmias were collected. A total of 224 PAF patients receiving radiofrequency ablation had an 18-month scheduled follow-up study for recurrence of AF. Three single-nucleotide polymorphisms (SNPs) of TCF21 (rs2327429, rs2327433 and rs12190287) were genotyped by PCR, and serum levels of TCF21 were measured by ELISA. Results: More males and smokers were observed in the PAF group compared with controls. C allele of rs2327429, G allele and GG genotype of rs12190287 were markedly associated with the increased onset of PAF. The levels of serum TCF21 were significantly higher in PAF group than those in control group (1.96 ± 0.85 vs 0.86 ± 0.49 ng/mL, P<0.001). Based on logistic regression analysis, we confirmed that risk allele at rs12190287 and serum TCF21 concentration were independently correlated with the incidence of PAF. Furthermore, GG genotype of rs12190287 enhanced the susceptibility of AF recurrence after ablation. Conclusion: G allele and GG genotype of rs12190287 in TCF21 and elevated TCF21 concentration are significantly associated with the onset of PAF and recurrence after ablation.

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TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population

Cited by 9 publications

References 32 publications

The Role of Transcription Factor 21 in Epicardial Cell Differentiation and the Development of Coronary Heart Disease

The Role of Transcription Factor 21 in Epicardial Cell Differentiation and the Development of Coronary Heart Disease

Post-Transcriptional Regulation of Molecular Determinants during Cardiogenesis

Association Between TCF21 Gene Polymorphism with the Incidence of Paroxysmal Atrial Fibrillation and the Efficacy of Radiofrequency Ablation for Patients with Paroxysmal Atrial Fibrillation

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