SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease

Yash P Patel,Samir G Patel,Sandip B Patel,Aditya Parikh,Shailesh Soni,Ratika Srivastava,Chintal Raval,Manan A Raval,Sachchida Nand Pandey,Arvind P Ganpule,Mahesh R Desai

Gene（2023）

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摘要

•Renal stone disease is a disseminated disease and recurrence is a major burden to humanity.•Pathophysiology is the key to prevention, and genetic variants can play a major role.•SPP1 and UMOD genes are key impactors in calcium oxalate stone formation.•SPP1 and UMOD variants can trigger metabolic disorders associated with stone disease.•The rs1126616 (SPP1) and rs4293393 (UMOD) variants significantly increases the risk of renal stone disease.

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关键词

Renal stone disease,SPP1gene,UMOD gene,Genetic variants,Polymorphism,Hyperparathyroidism,Hypercalciuria,Hyperoxaluria

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