ArticleJournal of cellular and molecular medicine2021
Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.
Article in Journal of cellular and molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Genetic variants of ACTC1 gene promoter in pediatric patients with sporadic patent ductus arteriosus and pathological significance.Pediatric research · 2026Article
- CITED Proteins in Cardiac Development and Lifelong Heart Function.Journal of personalized medicine · 2025Review
- Molecular and cellular role of variants of the promoter region of HAND1 gene in sporadic and isolated ventricular septal defect.Molecular and cellular biochemistry · 2025Article
- Time trends in mortality of congenital heart disease in children aged 0-14 years: a global, regional, and national cohort analysis from 1990 to 2021 using the global burden of disease study.Frontiers in public health · 2025Article
- Identification and Functional Verification of CITED2 Gene Promoter Region in Patients with Patent Ductus Arteriosus.International journal of molecular sciences · 2023Article
- Article
- Pathophysiological Role of Variants of the Promoter Region of CITED2 Gene in Sporadic Tetralogy of Fallot Patients with Cellular Function Verification.Biomolecules · 2022Article
- Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.BMC medical genomics · 2022Article
- Genetic Variants ofJournal of cardiovascular development and disease · 2022Article
- MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.Journal of clinical medicine · 2022Article
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
- A novelExperimental and therapeutic medicine · 2022Article
- Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.Journal of cellular and molecular medicine · 2021Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Ventricular septal defect (VSD) is the most common congenital heart defect. Previous studies have reported genetic variations in the encoding region of CITED2 highly associated with cardiac malformation but the role of CITED2 gene promoter variations in VSD patients has not yet been explored. We investigated the variation of CITED2 gene promoter and its impacts on gene promoter activity in the DNA of paediatric VSD patients. A total of seven variations were identified by Sanger sequencing in the CITED2 gene promoter region in 400 subjects, including 200 isolated and sporadic VSD patients and 200 healthy controls. Using dual-luciferase reporter assay, we found four of the 7 variations identified significantly decreased the transcriptional activity of the CITED2 gene promoter in HEK-293 cells (P < .05). Further, a bioinformatic analysis with the JASPAR databases was performed and a cluster of putative binding sites for transcription factors was created or disrupted by these variations, leading to low expression of CITED2 protein and development of VSD. Our study for the first time demonstrates genetic variations in the CITED2 gene promoter in the Han Chinese population and the role of these variations in the development of VSD, providing new insights into the aetiology of CHD.
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