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组十对照组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.