云南德宏州傣族人群CaSR基因SNP与含钙肾结石和高钙尿的关联性

Association of Single Nucleotide Polymorphisms of Calcium Sensitive Receptor Gene with Calcium Nephrolithiasis and Hypercalciuria in Chinese Dai Population

目的研究云南德宏州傣族人群CaSR基因多态性与含钙肾结石和高钙尿的相关性。方法云南德宏州的傣族含钙肾结石患者为实验组,云南德宏州的体检健康傣族人群为对照组,抽静脉血进行CaSR基因3个SNP位点rs7652589、rs1801725、rs1042636测定,结石组研究对象行24 h尿钙值测定,进行基因相关对比分析。结果rs7652589位点纯合AA型基因者与AA+GG基因者在含钙肾结石的发生对比分析,差异具有统计学意义(P<0.05)。rs1042636位点的GG型基因者的24 h尿钙值与AA和AG基因型者对比,差异具有统计学意义(P<0.05)。rs7652589位点GG型基因者24 h尿钙与AA和AG型基因者对比,差异具有统计学意义(P<0.05)。结论云南德宏州傣族人群中CaSR基因上的rs7652589位点多态性与含钙肾结石和高钙尿的发生有关,rs1042636位点的GG型基因与傣族高钙尿发生相关,rs7652589位点GG型基因可能是该民族发生高钙尿和含钙肾结石的候选基因。

Objective To study the association of CaSR gene polymorphism with calcium nephrolithiasis and hypercalciuria in Chinese Dai population.Methods The Dai patients with calcium containing renal calculi in Dehong Prefecture,Yunnan Province,China were selected as the experimental group,and the healthy Dai people in Dehong Prefecture,Yunnan Province were taken as the control group.The venous blood was drawn for the determination of the three SNP loci rs7652589,rs1801725,and rs1042636 of the CaSR gene.The subjects in the stone group were tested for 24-hour urine calcium value,and the gene correlation was analyzed.Results There was a statistical difference between the homozygous AA gene and AA+GG gene at rs7652589 locus in the occurrence of calcium nephrolithiasis(P<0.05).The 24 h urine calcium value of the GG genotype with rs1042636 locus was significantly different from that of the AA based and AG genotype(P<0.05).There was a significant difference in 24 h urine calcium between those with GG genotype at rs7652589 locus and those with AA and AG genotype(P<0.05)Conclusion The rs7652589 polymorphism on the CaSR gene in the Dai population in China is related to the occurrence of calcium nephrolithiasis and hypercalciuria.The GG gene at rs1042636 is related to the occurrence of hypercalciuria in the Dai population.The GG gene at rs7652589 may be a candidate gene for the occurrence of hypercalciuria leading to calcium nephrolithiasis in this ethnic group.