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Updated: Jan 21, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits
Raha Pazoki1, Evangelos Evangelou1,2, David Mosen-Ansorena1
1MRC-PHE Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, St Mary's campus, Norfolk Place, London, W2 1PG, UK.
None:
Urinary sodium and potassium excretion are associated with blood pressure (BP) and cardiovascular disease (CVD). The exact biological link between these traits is yet to be elucidated. Here, we identify 50 loci for sodium and 13 for potassium excretion in a large-scale genome-wide association study (GWAS) on urinary sodium and potassium excretion using data from 446,237 individuals of European descent from the UK Biobank study. We extensively interrogate the results using multiple analyses such as Mendelian randomization, functional assessment, co localization, genetic risk score, and pathway analyses. We identify a shared genetic component between urinary sodium and potassium expression and cardiovascular traits. Ingenuity pathway analysis shows that urinary sodium and potassium excretion loci are over-represented in behavioural response to stimuli. Our study highlights pathways that are shared between urinary sodium and potassium excretion and cardiovascular traits.
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