钙敏感受体基因多态性与江西赣南地区含钙肾结石的相关性研究

曾庆明; 邹晓峰; 曾晓鹏; 刘全亮; 谢天朋; 江波; 夏维; 肖观称; 刘林伟; 赖长福; 祝家兴; 张国玺

doi:10.13201/j.issn.1001-1420.2020.02.001

钙敏感受体基因多态性与江西赣南地区含钙肾结石的相关性研究

- 1. 赣南医学院第一附属医院泌尿外科江西省泌尿系统疾病临床医学研究中心江西省结石防治工程技术研究中心(江西赣州, 341000);
- 2. 江西省赣州市赣县区人民医院泌尿外科
基金项目:
国家自然科学基金资助项目(No:81260113,81160089)

江西省科技厅科技计划项目(No:20132BBG70089)

江西省卫生厅科技计划项目(No:20155440)

详细信息

通讯作者: 张国玺,E-mail:gyfyurology@yeah.com

中图分类号: R692

收稿日期: 2019-03-21

The association between the gene polymorphisms in the calcium-sensing receptor and calcium nephrolithiasis in Jiangxi Gannan area

- 1. Department of Urology, First Affiliated Hospital of Gannan Medical University, Institute of Urology, Gannan Medical University, Ganzhou, Jiangxi, 341000, China;
- 2. Department of Urology, People's Hospital of Ganxian District

More Information

Corresponding author: ZHANG Guoxi, E-mail: gyfyurology@yeah.com

Received Date: 21 March 2019

摘要

摘要: 目的:探讨钙敏感受体(calcium-sensing receptor,CaSR)基因多态性与江西赣南地区含钙肾结石(calcium nephrolithiasis,CN)的相关性。方法:采用实时荧光定量聚合酶链式反应(real-time polymerase chain reaction,Real-time PCR)TaqMan-MGB探针法检测赣南地区220例含钙肾结石患者(CN组)和250例健康人群(对照组)CaSR基因rs9740、rs1501899、rs3749207、rs4678174、rs6776158、rs7652589、rs1042636、rs1801725、rs1801726、rs7632399和rs9883981位点单核苷酸多态性(single nucleotide polymorphism,SNP),同时检测两组人群血钙和尿钙,应用R语言中SNPassoc 1.9-2和Haplo.stats 2.17.0软件分析CaSR基因型和单体型与含钙肾结石的相关性。结果:CN组中rs1501899位点的A等位基因频率高于对照组(P<0.001);与对照组相比,CN组中rs1501899位点GG基因型频率显著增高(P<0.001);CN组+对照组CaSR基因rs1501899 SNP位点GG型组尿钙(9.509±2.493)mg/dL显著高于AA型组(8.719±2.460)mg/dL(P=0.012)及AG型组(8.813±2.483)mg/dL(P=0.016)。基因单体型分析显示,AATCAGAGCAA、AGCTGAGGCGG单体型与CN的形成呈正相关(OR=1.57,95%CI=1.46~1.69;OR=1.55,95%CI=1.46~1.64),AGCTAGGGCAA与CN的形成呈负相关(OR=0.87,95%CI=0.79~0.96)。结论:CaSR基因多态性与江西赣南地区含钙肾结石的形成显著相关。
- 钙敏感受体 /
- 基因多态性 /
- 单体型 /
- 含钙肾结石
Abstract: Objective: To explore the association between the CaSR gene polymorphisms and calcium nephrolithiasis in Gannan Area of Jiangxi Province. Method: In all, 220 cases of patients with calcium nephrolithiasis(CN group) and 250 cases of normal people(control group) in Gannan Area of Jiangxi Province were recruited in this study. Rs9740, rs1501899, rs3749207, rs4678174, rs6776158, rs7652589, rs1042636, rs1801725, rs1801726, rs7632399 and rs9883981 single nucleotide polymorphisms(SNP) in CaSR gene were all detected by real-time fluorescent quantitative polymerase chain reaction TaqMan-MGB 5'-nuclease assay. And serum calcium and uric calcium in both groups were detected. The analysis of association between genotype or polymorphisms and calcium nephrolithiasis was performed with SNPassoc 1.9-2 and Haplo. stats 2.17.0 in R statistics program. Result: The frequency of the A allele of rs1501899 was higher than that in the control group(P<0.001), and the frequency of the GG genotype of rs1501899 was higher than that in the control group(P<0.001). Furthermore, the participants(CN group and control group) with GG genotype at rs1501899 had significantly higher urinary calcium concentrations(9.509±2.493 mg/dL) than that of participants carrying the AA genotype(8.719±2.460) mg/dL(P=0.012) and that of participants carrying the AG genotype(8.813±2.483) mg/dL(P=0.016). CaSR gene haplotype analysis showed that haplotype AATCAGAGCAA, AGCTGAGGCGG was positively correlated with the formation of calcium nephrolithiasis(OR=1.57, 95%CI=1.46-1.69; OR=1.55, 95%CI=1.46-1.64, respectively), but haplotype AGCTAGGGCAA was negatively correlated with the formation of calcium nephrolithiasis(OR=0.87, 95%CI=0.79-0.96).Conclusion: CaSR gene polymorphisms were significantly associated with the formation of calcium nephrolithiasis in Gannan Area of Jiangxi Province.
- calcium-sensing receptor /
- gene polymorphisms /
- haplotype /
- calcium nephrolithiasis

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