Overlap of vitamin A and vitamin D target genes with CAKUT-related processes

F1000Res. 2021 May 18:10:395. doi: 10.12688/f1000research.51018.2. eCollection 2021.

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.

Keywords: CAKUT; environmental factor; nutrients; renal development; vitamin A; vitamin D.

MeSH terms

  • Female
  • Humans
  • Kidney / abnormalities
  • Male
  • Urinary Tract*
  • Urogenital Abnormalities
  • Vesico-Ureteral Reflux
  • Vitamin A*
  • Vitamin D / genetics
  • Vitamins

Substances

  • Vitamins
  • Vitamin A
  • Vitamin D

Supplementary concepts

  • Cakut

Grants and funding

This study has been conducted in context of the European Joint Programme on Rare Diseases (EJP RD) which has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement N°825575. Ozan Ozisik has received funding from the Excellence Initiative of Aix-Marseille University - A*Midex, a French “Investissements d’Avenir” programme.