Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2024

Lower estimated glomerular filtration rate relates to cognitive impairment and brain alterations

Authors: S. Rahayel, R. Goupil, D.S. Genest, F. Lamarche, M. Agharazii, V. Ayral, C. Tremblay, F. Madore

The researchers investigated the association between estimated glomerular filtration rate (eGFR) and cognitive function in 15,897 CARTaGENE participants. They found that lower eGFR was linked to reduced cognitive performance and that brain regions associated with eGFR were enriched in mitochondrial and inflammation-related genes. These associations were independent of age, sex, education, BMI, Framingham risk score, and white matter lesion volume.

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2022

Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin

Authors: Christina B. Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E. Huffman, Archie Campbell, Sarah E. Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sébastien Thériault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, Tanguy Corre, Ivana Kolcic, Corrinda Black, Vanessa Bruat, Maria Pina Concas, Cinzia Sala, Stefanie Aeschbacher, Franz Schaefer, Sven Bergmann, Harry Campbell, Matthias Olden, Ozren Polasek, David J. Porteous, Ian J. Deary, Francois Madore, Philip Awadalla, Giorgia Girotto, Sheila Ulivi, David Conen, Elke Wuehl, Eric Olinger, James F. Wilson, Murielle Bochud, Anna Köttgen, Caroline Hayward, Olivier Devuyst

This study is a meta-analysis of genome-wide association studies to understand the mechanisms that regulate urinary excretion of uromodulin. Researchers identified two novel significant loci, providing insight into uromodulin’s biology, keratins’ role in the kidney, and the UMOD-PDILT locus’s influence on kidney function.

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