ArticleEBioMedicine2018
Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection.
Article in EBioMedicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52 citing papers in PubMed, 64 citations in OpenAlex.
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- The 100 most cited papers on total anomalous pulmonary venous connection: a bibliometric analysis.Journal of cardiothoracic surgery · 2023Article
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- HSPA5 Could Be a Prognostic Biomarker Correlated with Immune Infiltration in Breast Cancer.Disease markers · 2022Article
- Peripheral Blood Transcripts Predict Preoperative Obstructive Total Anomalous Pulmonary Venous Connection.Frontiers in cardiovascular medicine · 2022Article
- An in-depth analysis reveals two new genetic variants on 22q11.2 associated with vitiligo in the Chinese Han population.Molecular biology reports · 2021Article
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- Pulmonary Vein Stenosis: Incremental Knowledge Gains to Improve Outcomes.Children (Basel, Switzerland) · 2021Article
- Utility of a modified vascular corrosion casting technique in the diagnosis of fetal total anomalous pulmonary venous connection.Scientific reports · 2021Article
- CircITGA7 Suppresses Gastric Cancer Progression Through miR-1471/MTDH Axis.Frontiers in cell and developmental biology · 2021Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTotal anomalous pulmonary venous connection (TAPVC) is recognized as a rare congenital heart defect (CHD). With a high mortality rate of approximately 80%, the survival rate and outcomes of TAPVC patients are not satisfactory. However, the genetic aetiology and mechanism of TAPVC remain elusive. This study aimed to investigate the underlying genomic risks of TAPVC through next-generation sequencing (NGS).
methodsRare variants were identified through whole exome sequencing (WES) of 78 sporadic TAPVC cases and 100 healthy controls using Fisher's exact test and gene-based burden test. We then detected candidate gene expression patterns in cells, pulmonary vein tissues, and embryos. Finally, we validated these genes using target sequencing (TS) in another 100 TAPVC cases.
findingsWe identified 42 rare variants of 7 genes (CLTCL1, CST3, GXYLT1, HMGA2, SNAI1, VAV2, ZDHHC8) in TAPVC cases compared with controls. These genes were highly expressed in human umbilical vein endothelial cells (HUVECs), mouse pulmonary veins and human embryonic hearts. mRNA levels of these genes in human pulmonary vein samples were significantly different between cases and controls. Through network analysis and expression patterns in zebrafish embryos, we revealed that SNAI1, HMGA2 and VAV2 are the most important genes for TAPVC.
interpretationOur study identifies novel candidate genes potentially related to TAPVC and elucidates the possible molecular pathogenesis of this rare congenital birth defect. Furthermore, SNAI1, HMGA2 and VAV2 are novel TAPVC candidate genes that have not been reported previously in either humans or animals. FUND: National Natural Science Foundation of China.
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