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A Genome-Wide Association Study on Calcium Nephrolithiasis in Chinese Han Population Identifies Novel Susceptible

Lujia Wang1,2, Zijian Zhou1,2, Xiaoling Lin3

  • 1Department of Urology, Huashan Hospital & Institute of Urology, Fudan University, 12 Middle Wulumuqi Rd., Shanghai 200040, China.

Genes
|March 28, 2026
PubMed

Insights

This study identified three new genetic loci associated with calcium nephrolithiasis risk in the Chinese Han population. These findings advance our understanding of kidney stone development and potential genetic predispositions.

Area of Science:

  • Genetics
  • Nephrology
  • Population Health

Background:

  • Nephrolithiasis (kidney stones) is a growing global health concern with high recurrence rates.
  • Limited understanding exists regarding genetic risk factors for calcium nephrolithiasis in Chinese Han populations.

Purpose of the Study:

  • To identify genetic factors contributing to calcium nephrolithiasis risk.
  • To investigate associations between genetic variations and quantitative traits in Chinese Han individuals.

Main Methods:

  • Conducted a genome-wide association study (GWAS) with 1006 cases and 1200 controls.
  • Replicated suggestive loci in an independent cohort (445 cases, 1008 controls).
  • Assessed associations of significant single-nucleotide polymorphisms (SNPs) with metabolic, kidney, and electrolyte traits.

Main Results:

  • Identified three novel susceptibility loci for calcium nephrolithiasis: SORBS2 (4q35.1), CXXC5 (5q31.2), and MBD2 (18q21.21).
  • Associated SNP rs3736194 with higher serum carbon dioxide.
  • Associated SNP rs356450 with lower serum chloride and rs55826947 with higher BMI.

Conclusions:

  • This is the first GWAS on calcium nephrolithiasis in a Chinese Han cohort.
  • Discovered three novel loci (SORBS2, CXXC5, MBD2) associated with calcium nephrolithiasis risk.
  • Further research is needed to elucidate the molecular mechanisms of these identified genetic variations.

Keywords:
CXXC5Chinese Han populationMBD2SORBS2calcium nephrolithiasisgenome-wide association study

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