Khaleel Anas, Wu Mei-Shin, Wong Henry Sung-Ching, Hsu Yu-Wen, Chou Yii-Her, Chen Hsiang-Yin
Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan.
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.
Mediators Inflamm. 2015;2015:375427. doi: 10.1155/2015/375427. Epub 2015 May 18.
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.
肾结石的特征是肾脏中的结石钙化，病因不明。动物模型显示了瞬时受体电位香草酸亚型5（TRPV5）基因在钙肾重吸收和高钙尿症中的功能作用。因此，有人认为TRPV5参与钙稳态。然而，TRPV5的基因多态性是否与肾结石的多发性或复发有关尚不清楚。在本研究中，招募了365名台湾肾结石患者。收集了生化数据和DNA样本。通过TaqMan等位基因鉴别分析进行基因分型。我们发现，TRPV5多态性（rs4236480）与钙肾结石的结石多发性相关，因为TT + CT基因型患者的结石多发性风险高于CC基因型患者（p = 0.0271）。总之，尽管肾结石的发病机制复杂，且有众多钙稳态吸收/重吸收因子存在潜在关联，但TRPV5在钙肾结石的发病机制中起着重要作用。
