Wang Lujia, Zhou Zijian, Yang Yuanyuan, Gao Peng, Lin Xiaoling, Wu Zhong
Department of Urology, Huashan Hospital & Institute of Urology, Fudan University, Shanghai, China.
Clinical Research Center of Urolithiasis, Shanghai Medical College, Fudan University, Shanghai, China.
Front Genet. 2022 Jul 14;13:897051. doi: 10.3389/fgene.2022.897051. eCollection 2022.
A previous genome-wide association study (GWAS) reported several novel loci for nephrolithiasis in British and Japanese population, some of which were predicted to influence CaSR signaling. In this study, we aimed to evaluate the association of these loci with calcium nephrolithiasis in Chinese Han population. We performed a case-control association analysis involving 691 patients with calcium nephrolithiasis and 1008 control subjects. We were able to genotype a total of 17 single-nucleotide polymorphisms (SNPs), which were previously reported to be significantly associated with nephrolithiasis in GWAS. rs578595 at 72 was significantly associated with calcium nephrolithiasis in Chinese Han population ( < 0.001, OR = 0.617). Moreover, rs12654812 at ( = 0.0427, OR = 1.170), rs12539707 at ( = 0.0179, OR = 0.734), rs1037271 at ( = 0.0096, OR = 0.828) and rs12626330 at ( = 0.0080, OR = 1.213) indicated suggestive associations with calcium nephrolithiasis. Our results elucidated the significance of genetic variation at 72, , , , and in Chinese patients with nephrolithiasis. Since polymorphisms of , , and are predicted to influence in CaSR signaling, our results emphasized the role of abnormal calcium homeostasis in calcium nephrolithiasis.
先前的一项全基因组关联研究（GWAS）报告了英国和日本人群中肾结石的几个新位点，其中一些位点被预测会影响钙敏感受体（CaSR）信号传导。在本研究中，我们旨在评估这些位点与中国汉族人群中钙结石的关联。我们进行了一项病例对照关联分析，涉及691例钙结石患者和1008例对照受试者。我们总共能够对17个单核苷酸多态性（SNP）进行基因分型，这些SNP先前在GWAS中被报道与肾结石显著相关。7号染色体上的rs578595与中国汉族人群中的钙结石显著相关（P<0.001，OR = 0.617）。此外，1号染色体上的rs12654812（P = 0.0427，OR = 1.170）、1号染色体上的rs12539707（P = 0.0179，OR = 0.734）、7号染色体上的rs1037271（P = 0.0096，OR = 0.828）和1号染色体上的rs12626330（P = 0.0080，OR = 1.213）表明与钙结石存在提示性关联。我们的结果阐明了7号、1号、1号、1号和1号染色体上基因变异在中国肾结石患者中的意义。由于1号、7号和1号染色体的多态性被预测会影响CaSR信号传导，我们的结果强调了异常钙稳态在钙结石中的作用。
