Abstract
Congenital diaphragmatic hernia (CDH) is an anomaly characterized by a defect in the diaphragm, leading to the passage of intra-abdominal organs into the thoracic cavity. Herein, the presented work analyzes the global gene expression profiles in nine CDH and one healthy newborn. All of the patients had left posterolateral (Bochdalek) diaphragmatic hernia, operated via an abdominal approach, and stomach and bowels in the thorax cavity. Some patients also had additional anomalies. A total of 560 differentially regulated genes were measured. Among them, 11 genes showed significant changes in expression associated with lung tissue, vascular structure development, and vitamin A metabolism, which are typical ontologies related to CDH etiology. Among them, SLC25A24 and RAB3IL1 are involved in angiogenesis, HIF1A and FOXC2-AS1 are related with the alveolus, MAGI2-AS3 is associated with the diaphragm, LHX4 and DHH are linked with the lung, and BRINP1, FZD9, WNT4, and BLOC1S1-RDH5 are involved in retinol. Besides, the expression levels of some previously claimed genes with CDH etiology also showed diverse expression patterns in different patients. All these indicated that CDH is a complex, multigenic anomaly, requiring holistic approaches for its elucidation.
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Data availability
The generated RNA-seq datasets were uploaded into the NCBI SRA database under the Bioproject ID: PRJNA768307.
Change history
14 June 2022
A Correction to this paper has been published: https://doi.org/10.1007/s10142-022-00872-6
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Acknowledgements
We would like to thank Turan YILDIZ for his contribution to this study.
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This work was supported by Inonu University Scientific Research Project Coordination Unit (project code: TSA-2021–2454).
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The original online version of this article was revised: In the Introduction part, 4th sentence, "It is thought to be caused by a developmental defect of the pleuroperitoneal membrane, one of the four parts of the diaphragm (Ameis et al. 2017)" should be replaced with: "Its cause has not been fully known but genetic defects are thought to play roles in the etiology due to its emergence in the early period (embryologic); lung and heart anomalies frequently accompanied by this disease (Ameis et al. 2017)
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Gürünlüoğlu, K., Dündar, M., Unver, T. et al. Global gene expression profiling in congenital diaphragmatic hernia (CDH) patients. Funct Integr Genomics 22, 359–369 (2022). https://doi.org/10.1007/s10142-022-00837-9
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DOI: https://doi.org/10.1007/s10142-022-00837-9