Li Hao, Zhang Jianhua, Long Jiang, Shi Jiarun, Luo Yuhui
Department of Urology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.
Ann Hum Genet. 2018 Sep;82(5):265-271. doi: 10.1111/ahg.12249. Epub 2018 Apr 16.
The calcium-sensing receptor (CaSR) gene plays an important role in regulating the Ca balance and reducing the risk for calcium stones. In this study, we evaluated the association of CaSR polymorphisms with calcium nephrolithiasis in the population of Yi nationality in Southwestern China. Biochemical variables were evaluated in 624 calcium nephrolithiasis patients and 470 age-matched healthy controls without a history of nephrolithiasis. CaSR polymorphisms rs7652589, rs1501899, rs1801725 (Ala986Ser), rs1042636 (Arg990Gly) and rs1801726 (Gln1011Glu) were investigated between the calcium nephrolithiasis patients and healthy controls, using direct sequencing. Compared with the healthy controls, serum creatinine and 24-hour urine calcium levels were significantly higher in calcium nephrolithiasis patients. Among these five polymorphisms, the genotypic and allelic frequency distributions of rs7652589 SNP was significantly associated with the risk of calcium nephrolithiasis. However, there were no genotypic or allelic distribution differences for rs1501899, rs1801725, rs1042636, and rs1801726 polymorphisms between calcium nephrolithiasis patients and healthy controls. Moreover, the association between rs7652589 SNP genotypes and the biochemical variables was not found. Our study showed that CaSR rs7652589 polymorphism had a significant effect on the risk of developing calcium nephrolithiasis in the population of Yi nationality in Southwestern China.
钙敏感受体（CaSR）基因在调节钙平衡及降低肾结石风险方面发挥着重要作用。在本研究中，我们评估了中国西南部彝族人群中CaSR基因多态性与钙肾结石病的关联。对624例钙肾结石病患者及470例年龄匹配、无肾结石病史的健康对照者进行了生化指标评估。采用直接测序法，对钙肾结石病患者和健康对照者的CaSR基因多态性rs7652589、rs1501899、rs1801725（Ala986Ser）、rs1042636（Arg990Gly）和rs1801726（Gln1011Glu）进行了检测。与健康对照者相比，钙肾结石病患者的血清肌酐和24小时尿钙水平显著更高。在这5种多态性中，rs7652589单核苷酸多态性（SNP）的基因型和等位基因频率分布与钙肾结石病风险显著相关。然而，钙肾结石病患者与健康对照者之间，rs1501899、rs1801725、rs1042636和rs1801726多态性的基因型或等位基因分布无差异。此外，未发现rs7652589 SNP基因型与生化指标之间存在关联。我们的研究表明，CaSR rs7652589多态性对中国西南部彝族人群患钙肾结石病的风险有显著影响。
