Aix Marseille University, Inserm, MMG, Marseille, 13385, France.
Department of Bioinformatics - BiGCaT, Maastricht University, Maastricht, 6200 MD, The Netherlands.
F1000Res. 2021 May 18;10:395. doi: 10.12688/f1000research.51018.2. eCollection 2021.
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.
先天性肾和尿路异常（CAKUT）是一组影响肾脏及其流出道的异常。CAKUT 患者表现出很大的临床变异性和复杂的病因。只有 5%到 20%的病例有单基因起源。因此，人们怀疑遗传和环境因素的相互作用导致了这种疾病。维生素是被认为与 CAKUT 病因有关的环境因素之一。在这项研究中，我们旨在研究维生素 A 或维生素 D 是否在 CAKUT 的病因学中起作用。为此，我们收集了维生素 A 和维生素 D 的靶基因，并计算了它们与 CAKUT 相关基因集的重叠。我们观察到维生素 D 靶基因与 CAKUT 相关基因集之间的重叠有限。然而，我们观察到维生素 A 靶基因与多个 CAKUT 相关基因集显著重叠，包括 CAKUT 因果和差异表达基因，以及参与肾脏系统发育的基因。总的来说，这些结果表明，维生素 A 的过量或缺乏可能与广泛的泌尿生殖系统异常有关。
