Abstract
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a group of abnormalities affecting the kidneys and their outflow tracts, which include the ureters, the bladder, and the urethra. CAKUT patients display a large clinical variability as well as a complex aetiology, as 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 collected vitamin A and vitamin D target genes and computed their overlap with CAKUT-related gene sets. We observed significant overlaps between vitamin A target genes and CAKUT causal genes, or with genes involved in renal system development, which indicates that an excess or deficiency of vitamin A might be relevant to a broad range of urogenital abnormalities.
Highlights
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a group of abnormalities affecting the kidneys and their outflow tracts, including the ureters, the bladder, and the urethra
The results of the overlap analyses between vitamin A and D target genes and CAKUT-related gene sets are presented in Tables 1 and 2, and the corresponding data is available in Underlying data
The significant overlaps observed between vitamin A and the CAKUT gene sets indicate that vitamin A might be relevant to a broad range of urogenital abnormalities
Summary
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a group of abnormalities affecting the kidneys and their outflow tracts, including the ureters, the bladder, and the urethra. In the European Union, the overall prevalence of CAKUT (in live plus stillbirths) between 2011 and 2018 was approximately 35:10,000.1 The main anomalies observed in CAKUT are hydronephrosis (13.02:10,000) and multicystic renal dysplasia (4.33:10,000); these are followed by posterior urethral valves (1.26:10,000), bilateral renal agenesis (1.27:10,000) and bladder exstrophy/epispadia (0.62:10,000); many other anomalies with low prevalence can be observed.1 This clinical variability observed in patients is accompanied by a variable severity of the phenotypes.. Studies have observed CAKUT associations with pregestational maternal diabetes mellitus, gestational maternal diabetes mellitus, abnormal volume of amniotic fluid, urogenital infections before the pregnancy, any infection during the pregnancy, maternal overweight and obesity, and lower infant birth weight.. Studies have observed CAKUT associations with pregestational maternal diabetes mellitus, gestational maternal diabetes mellitus, abnormal volume of amniotic fluid, urogenital infections before the pregnancy, any infection during the pregnancy, maternal overweight and obesity, and lower infant birth weight.7,8,9,10 These maternal and prenatal factors are modulated by environmental risk factors. A brief description for the reason of the choice of literature (Balmer and Blomhoff, 2002 for Vitamin A, Ramagopalan et al, 2010 for Vitamin D) could enhance the comprehension
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