New Study Validate Genetic Factors Contributing to Kidney Stone – Genetic Education
Kidney stone genetics

New Study Validate Genetic Factors Contributing to Kidney Stone

“A recent study demonstrated the role of the CCL7 gene in CaOx and CaP kidney stones. Olfactory transduction pathway activation also contributes to the development of kidney stones.”  

03 Jan 2024; Frontiers in Genetics, Zhang et al.

Kidney stones

Kidney stones are the deposition of rigid stone-like material in the kidney leading to urinary tract obstruction or renal failure in worse cases. It’s often known as kidney calculi, nephrolithiasis or urolithiasis. 

Two types of kidney stones are calcium oxalate (CaOx) and calcium phosphate (CaP), accounting for 80 to 90% of kidney stone cases. 

The global prevalence of the present condition is 8% in adults. Severe pain in the belly area or back side is the main symptom of kidney stones. 

Genetics behind Kidney stone 

Recent reviews indicate that monogenic kidney stones, linked to a single gene, are hereditary, accounting for a 15% prevalence. In contrast, the remaining cases have a polygenic basis, with unclear inheritance patterns and involvement of environmental factors.

The recent study published on 03 Jan 2024; Frontiers in Genetics by Zhang et al. explained the role of the CCL7 gene in kidney stone formation. 

Related article: Recent Research Unfolded the Genetics Behind Sleep Latency.

The present research

Zhang et al. from the Division of Nephrology, The Fifth Affiliated Hospital of Wenzhou Medical University, Lishui Central Hospital in association with the Division of Traditional Chinese Medicine, The Fifth Affiliated Hospital of Wenzhou Medical University, Lishui Central Hospital, China published a recent study showing the role of genetic factors in kidney stones. 

The techniques and methods used in the present study are urine RNA isolation and Real-time PCR analysis while the computational tools used for analysis are microarray data, downloaded from the gene expression omnibus database, DEGs, KEGG pathway analysis, PPI and GSEA. 

Differentially expressed genes (DEGs), gene ontology study, construction of protein-protein interactions (PPI) and gene set enrichment analysis (GSEA) helped to collect various gene, gene expression and protein interaction data related to kidney stones. 

The whole study is backed with statistical analysis for data collection and interpretation. The findings of the present study demonstrate the significant role of CCL7 in the formation of kidney stones. 

CCL7 (C-C motif Chemokine Ligand 7 gene), located on chromosome 17 is involved in CaOx and CaP kidney stones. It depicts the significant role of the CCL7 gene in the development of calcium crystals. 

Furthermore, the present study also identified that the activated olfactory transduction pathway plays a major role in the development of kidney stones. However, the real-time study revealed a significant impact of LTA, MMP3, IL9, CD80, MMP10 and IL31 genes in the development of kidney stones. 

Interesting article: 50 Ways You Can Be a Geneticist Today.

Wrapping up

Kidney stone is a complex health condition involving various biological, environmental and genetic factors. However, genes like CCL7 play a crucial role in the development of kidney stones. 

Such studies help understand the complex interplay between kidney stones, pathways and various environmental factors. It also allows scientists to identify new drug targets, develop medications and treatments for kidney stones. 


Zhang, Qiankun, Hhuiling Wei, Gang Huang, and Lie Jin. “CCL7 and Olfactory Transduction Pathway Activation Play an Important Role in the Formation of CaOx and CaP Kidney Stones.” Frontiers in Genetics 14, (2024): 1267545. Accessed January 4, 2024.

Howles, Sarah A, and Rajesh V Thakker. “Genetics of kidney stone disease.” Nature reviews. Urology vol. 17,7 (2020): 407-421. doi:10.1038/s41585-020-0332-x.

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