A single nucleotide polymorphism (rs4236480) in TRPV5 calcium channel gene is associated with stone multiplicity in calcium nephrolithiasis patients

Anas Khaleel, Mei Shin Wu, Henry Sung Ching Wong, Yu Wen Hsu, Yii Her Chou, Hsiang Yin Chen

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Nephrolithiasis is characterized by calcification of stones in the kidneys from an unknown cause. Animal models demonstrated the functional roles of the transient receptor potential vanilloid member 5 (TRPV5) gene in calcium renal reabsorption and hypercalciuria. Therefore, TRPV5 was suggested to be involved in calcium homeostasis. However, whether genetic polymorphisms of TRPV5 are associated with kidney stone multiplicity or recurrence is unclear. In this study, 365 Taiwanese kidney-stone patients were recruited. Both biochemical data and DNA samples were collected. Genotyping was performed by a TaqMan allelic discrimination assay. We found that a TRPV5 polymorphism (rs4236480) was observed to be associated with stone multiplicity of calcium nephrolithiasis, as the risk of stone multiplicity was higher in patients with the TT+CT genotype than in patients with the CC genotype (p=0.0271). In summary, despite the complexity of nephrolithiasis and the potential association of numerous calcium homeostatic absorption/reabsorption factors, TRPV5 plays an important role in the pathogenesis of calcium nephrolithiasis.

Original languageEnglish
Article number375427
JournalMediators of Inflammation
Volume2015
DOIs
Publication statusPublished - 2015

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TRPV Cation Channels
Nephrolithiasis
Calcium Channels
Single Nucleotide Polymorphism
Kidney Calculi
Calcium
Genes
Genotype
Hypercalciuria
Genetic Polymorphisms
Homeostasis
Animal Models
Recurrence
DNA

ASJC Scopus subject areas

  • Immunology
  • Cell Biology

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A single nucleotide polymorphism (rs4236480) in TRPV5 calcium channel gene is associated with stone multiplicity in calcium nephrolithiasis patients. / Khaleel, Anas; Wu, Mei Shin; Wong, Henry Sung Ching; Hsu, Yu Wen; Chou, Yii Her; Chen, Hsiang Yin.

In: Mediators of Inflammation, Vol. 2015, 375427, 2015.

Research output: Contribution to journalArticle

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AU - Wu, Mei Shin

AU - Wong, Henry Sung Ching

AU - Hsu, Yu Wen

AU - Chou, Yii Her

AU - Chen, Hsiang Yin

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