ArticleInternational journal of nephrology and renovascular disease2025
Unraveling the Genetic Links Between Polycystic Kidney Disease and Hypertension Through ARL13B.
Article in International journal of nephrology and renovascular disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is frequently accompanied by hypertension, with each condition potentially exacerbating the other. This study employs a bidirectional Mendelian randomization (MR) design to investigate the causal relationship between PKD and hypertension, alongside bioinformatics analyses to explore underlying genetic mechanisms. Methods: Genetic data for PKD and hypertension were obtained from the International Epidemiology Unit (IEU) Genome-Wide Association Study (GWAS) database. A bidirectional MR analysis was performed using nucleotide polymorphisms (SNPs) strongly associated with PKD and hypertension. Genetic annotation and enrichment analysis of SNPs were conducted using the Functional Mapping and Annotation (FUMA) platforms. Gene expression differences between PKD and controls were studied using the GEO database and single-cell data analysis tools. Quantitative PCR analysis of ARL13B mRNA levels in normal renal tubular epithelial cells (RCTEC), renal cystic epithelial cells (WT9-12), and ADPKD kidney tissues. Results: MR analysis demonstrated a causal effect of PKD on hypertension (IVW: Conclusion: Our bidirectional MR study demonstrated a causal effect of PKD on hypertension and a reverse influence of hypertension on PKD progression. Elevated ARL13B expression in ADPKD suggested a possible involvement of cilia-related pathways in the development of renal hypertension.
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