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The researchers discovered new genetic factors that probably contribute to the development of kidney stones. The results, which will be published in a future issue of Journal of the American Society of Nephrology (JASN), may be useful for predicting the risk of developing kidney stones in individuals and for identifying new targets for prevention and treatment.
Increasing numbers of adults develop kidney stones, a condition called urolithiasis, and they often experience considerable pain and frequent recurrence. To date, 6 genetic variants have been linked to urolithiasis and their role is not well understood.
In order to provide new information about the disease and its potential genetic causes, a team led by Koichi Matsuda, MD and Ph. Chizu Tanikawa, Ph.D. (University of Tokyo) conducted a large-scale badysis of the entire genome of 11,130 Japanese patients with urolithiasis and 187,639 controls, followed by a replication badysis of 2,289 affected patients and 3,817 controls.
The badysis revealed 14 variants related to urolithiasis at different sites of the genome, including 9 new variants. Four of the variants were related to obesity, high triglyceride levels or high levels of uric acid in the blood. The remaining 10 variants were badociated with kidney or electrolyte-related characteristics that may affect the crystallization pathways leading to the formation of kidney stones.
"To the best of our knowledge, this study included the largest number of cases of urolithiasis," said Dr. Matsuda. "Because urolithiasis is a preventable disease – by altering lifestyle factors such as hydration, weight control, and food consumption – the results of the study are useful for risk prediction and disease prevention, "said Dr. Matsuda.
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Material provided by American Society of Nephrology. Note: Content can be changed for style and length.
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