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Overlap of vitamin A and vitamin D target genes with CAKUT-related processes [version 2; peer review: 2 approved, 2 approved with reservations]

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Ozisik, Ozan
Ehrhart, Friederike
Evelo, Chris T.
Mantovani, Alberto
Baudot, Anaı̈s
Document typeArticle
Defense date2022
PublisherF1000Research
Rights accessOpen Access
Attribution 4.0 International
Except where otherwise noted, content on this work is licensed under a Creative Commons license : Attribution 4.0 International
ProjectEJP RD - European Joint Programme on Rare Diseases (EC-H2020-825575)
Abstract
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a group of abnormalities affecting the kidneys and their outflow tracts. CAKUT patients display a large clinical variability as well as a complex aetiology. Only 5% to 20% of the cases have a monogenic origin. It is thereby suspected that interactions of both genetic and environmental factors contribute to the disease. Vitamins are among the environmental factors that are considered for CAKUT aetiology. In this study, we aimed to investigate whether vitamin A or vitamin D could have a role in CAKUT aetiology. For this purpose we collected vitamin A and vitamin D target genes and computed their overlap with CAKUT-related gene sets. We observed limited overlap between vitamin D targets and CAKUT-related gene sets. We however observed that vitamin A target genes significantly overlap with multiple CAKUT-related gene sets, including CAKUT causal and differentially expressed genes, and genes involved in renal system development. Overall, these results indicate that an excess or deficiency of vitamin A might be relevant to a broad range of urogenital abnormalities.
CitationOzisik, O. [et al.]. Overlap of vitamin A and vitamin D target genes with CAKUT-related processes [version 2; peer review: 2 approved, 2 approved with reservations]. "F1000Research", 2022, vol. 10, núm. 395. 
URIhttp://hdl.handle.net/2117/371633
DOI10.12688/f1000research.51018.2
ISSN2046-1402
Publisher versionhttps://f1000research.com/articles/10-395
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