【目的】 研究糖尿病肾病（diabetic kidney disease，DKD）痰瘀证病性病位与葡萄糖转运蛋白 1（Glut1）和血管内皮生长因 子（VEGF）基因的单核苷酸多态性的关系。【方法】 运用多重聚合酶链式反应（PCR）技术和高通量测序技术，进行目标区域重 测序，使用生物学信息方法，获得所需位点的突变信息，对 2017年 8月至 2021年 4月期间在宁波市中医院内分泌科接受住 院治疗的224例DKD患者进行Glut1 rs710218、VEGF rs833061基因分型。并按照四诊信息，进行中医证素提取，分离出痰证 组78例和血瘀证组82例，并从剩余的病例中随机抽取非痰证组79例和非血瘀证组89例，运用统计学方法分析两者的关系。 【结果】（1）痰证组患者的Glut1基因rs710218位点上，AT基因型的出现频率显著高于非痰证组患者群体，组间比较，差异有 统计学意义（P < 0.05）；在痰证组病位证素表现为肾病位的病例中，Glut1 rs710218位点上的AT基因型出现频率显著高于非 肾病位群体，组间比较，差异有统计学意义（P < 0.05）。（2）血瘀证组患者的 VEGF基因 rs833061位点上，TT基因型的出现 频率显著升高，与非血瘀证组比较，差异有统计学意义（P < 0.05）；在血瘀证组病位证素表现为肝、肾病位的病例中， VEGF rs833061 位点上的 TT 基因型出现频率显著高于非肝、非肾病位组群体，组间比较，差异均有统计学意义（P < 0.05 或 P < 0.01）。【结论】 Glut基因 rs710218位点上的 AT基因型与 DKD痰证具有相关性，可能是 DKD痰证患者影响肾的遗传学 基础之一；VEGF基因rs833061位点上的TT基因型与DKD血瘀证具有相关性，TT基因型的病位大多表现于肝、肾。

Objective To explore the correlation between the diseases-location and disease-nature elements of phlegm and blood stasis syndrome in diabetic kidney disease（DKD）and single nucleotide polymorphism（SNP）of glucose transporter 1（Glut1）and vascular endothelial growth factor（VEGF）genes. Methods The SNP genotyping for Glut1 rs710218 and VEGF rs833061 of 224 patients with DKD were performed firstly by the resequencing of target region with multiplex polymerase chain reaction（PCR）and high-throughput sequencing technology，and then by revealing the mutation information of the targeted site with biological information methods. Moreover，the syndrome elements of traditional Chinese medicine （TCM）in 224 patients with DKD who received inpatient treatment at the Department of Endocrinology of Ningbo Municipal Hospital of Traditional Chinese Medicine between August 2017 and April 2021 were extracted after analyzing the information obtained by four diagnostic methods. Of the 224 patients，78 cases had phlegm syndrome（serving as phlegm syndrome group），and 82 cases had blood stasis syndrome（serving as the blood stasis syndrome group）. For the requirement of comparative analysis， 79 cases were sampled from the left 146 cases of non-phlegm syndrome at random and served as the non-phlegm syndrome group，and 89 cases were sampled from the left 142 cases of non-blood stasis syndrome at random and served as the non-blood stasis syndrome group. The correlation between them was analyzed by using statistical methods. Results（1）In the rs710218 site of Glut1 gene，the AT genotype frequency in the phlegm syndrome group was significantly higher than that in the non-phlegm syndrome group，and the comparison between the two groups showed that the difference was statistically significant（P < 0.05）. In the phlegm syndrome group， the patients with disease-location element of kidney had a higher AT genotype frequency in the rs710218 site of Glut1 gene than those with other disease-location elements，and the difference was statistically significant（P < 0.05）.（2）The TT genotype frequency in the rs833061 site of VEGF gene in the blood stasis syndrome group was significantly higher than that in the non-blood stasis syndrome group，and the difference was statistically significant between the two groups（P < 0.05）. In the blood stasis syndrome group，the patients with disease-location element of liver or kidney had a higher TT genotype frequency in the rs833061 site of VEGF gene than those with other disease-location elements，and the difference was statistically significant（P < 0.05 or P < 0.01）. Conclusion The AT genotype on the rs710218 site of Glut1 gene is correlated with phlegm syndrome in DKD，which may contribute to the genetic evidences for the affection of kidney in the phlegm syndrome in DKD patients；the TT genotype on the rs833061 site of VEGF gene is correlated with DKD of blood stasis syndrome，and the TT genotype are usually expressed in the DKD patients of blood stasis syndrome with disease-location element of liver or kidney.

R256.5

国家中医药管理局国家中医优势专科（内分泌科）专项基金项目；宁波市社会发展重大科技计划项目（编号：2017C510013）