Genome Study Identifies Kidney Disease Risk Factor Genes

A large genome-wide association study identified 14 variants, including nine new variants, at different genetic loci that were linked to the development of urolithiasis (kidney stone disease).

Although there was evidence that genetic factors played a substantial role in the risk of developing urolithiasis, previous genome-wide association studies (GWAS) had identified only six gene loci as risk-related.


To further investigate potential genetic causes of urolithiasis, investigators at the University of Tokyo (Japan) performed a large-scale analysis of the entire genomes of 11,130 Japanese patients with urolithiasis and 187,639 controls, followed by a replication analysis of 2,289 affected patients and 3,817 controls.

Results obtained during this study revealed four variants at different loci in the genome that were linked to urolithiasis, including nine new variants. Four of the variants were related to obesity, high triglycerides, or high blood uric acid levels. The remaining 10 variants were associated with kidney- or electrolyte-related traits that might affect crystallization pathways that lead to kidney stone formation.

“To the best of our knowledge, this study included the largest number of urolithiasis cases,” said senior author Dr. Matsuda, professor of genome science at the University of Tokyo. “Because urolithiasis is a preventable disease - by changing lifestyle factors such as hydration, weight control, and food intake - the study’s results are useful for risk prediction and disease prevention.”

The study was published in the April 2019 online edition of the Journal of the American Society of Nephrology.

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