title: A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients.
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.
authors.affiliation: Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan.
authors.forename: Anas
authors.initials: A
authors.lastname: Khaleel
authors.affiliation: Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan.
authors.forename: Mei-Shin
authors.identifier: 0000-0001-6544-1163
authors.initials: MS
authors.lastname: Wu
authors.affiliation: Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan ; Master's Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan.
authors.forename: Henry Sung-Ching
authors.initials: HS
authors.lastname: Wong
authors.affiliation: Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan ; Master's Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan.
authors.forename: Yu-Wen
authors.initials: YW
authors.lastname: Hsu
authors.affiliation: Department of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung 80756, Taiwan ; Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung 80756, Taiwan.
authors.forename: Yii-Her
authors.initials: YH
authors.lastname: Chou
authors.affiliation: Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan ; Department of Pharmacy, Wan Fang Hospital, Taipei Medical University, Taipei 11696, Taiwan.
authors.forename: Hsiang-Yin
authors.identifier: 0000-0002-3266-3613
authors.initials: HY
authors.lastname: Chen
mesh_terms: D000328:Adult; D002118:Calcium / Q000378:metabolism*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D053040:Nephrolithiasis / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D050916:TRPV Cation Channels / Q000235:genetics*
chemical_list: D050916:TRPV Cation Channels; C492239:TRPV5 protein, human; D002118:Calcium