A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients

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...

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Main Authors: Anas Khaleel, Mei-Shin Wu, Henry Sung-Ching Wong, Yu-Wen Hsu, Yii-Her Chou, Hsiang-Yin Chen
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Mediators of Inflammation
Online Access:http://dx.doi.org/10.1155/2015/375427
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author Anas Khaleel
Mei-Shin Wu
Henry Sung-Ching Wong
Yu-Wen Hsu
Yii-Her Chou
Hsiang-Yin Chen
author_facet Anas Khaleel
Mei-Shin Wu
Henry Sung-Ching Wong
Yu-Wen Hsu
Yii-Her Chou
Hsiang-Yin Chen
author_sort Anas Khaleel
collection DOAJ
description 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.
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language English
publishDate 2015-01-01
publisher Wiley
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series Mediators of Inflammation
spelling doaj-art-14c11bb1ab9146eaa80fa5c18c9c5e362025-08-20T03:54:29ZengWileyMediators of Inflammation0962-93511466-18612015-01-01201510.1155/2015/375427375427A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis PatientsAnas Khaleel0Mei-Shin Wu1Henry Sung-Ching Wong2Yu-Wen Hsu3Yii-Her Chou4Hsiang-Yin Chen5Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, TaiwanDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, TaiwanDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, TaiwanDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, TaiwanDepartment of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung 80756, TaiwanDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, TaiwanNephrolithiasis 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.http://dx.doi.org/10.1155/2015/375427
spellingShingle Anas Khaleel
Mei-Shin Wu
Henry Sung-Ching Wong
Yu-Wen Hsu
Yii-Her Chou
Hsiang-Yin Chen
A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
Mediators of Inflammation
title A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
title_full A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
title_fullStr A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
title_full_unstemmed A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
title_short A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
title_sort single nucleotide polymorphism rs4236480 in trpv5 calcium channel gene is associated with stone multiplicity in calcium nephrolithiasis patients
url http://dx.doi.org/10.1155/2015/375427
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