目的探讨DLC-1(deleted in liver cancer 1,DLC-1)、编码原钙黏蛋白10(protocadherin-10,PCDH10)表达水平和依赖还原型辅酶Ⅰ/Ⅱ:醌氧化还原酶NAD(P)H:quinone oxidoreductase l,NQO1基因多态性与吸烟诱导胃癌行内镜黏膜下剥离术(ESD)...目的探讨DLC-1(deleted in liver cancer 1,DLC-1)、编码原钙黏蛋白10(protocadherin-10,PCDH10)表达水平和依赖还原型辅酶Ⅰ/Ⅱ:醌氧化还原酶NAD(P)H:quinone oxidoreductase l,NQO1基因多态性与吸烟诱导胃癌行内镜黏膜下剥离术(ESD)术后复发的相关性。方法选取于2015年1月至2018年1月进行ESD术的202例胃癌患者作为研究对象,根据患胃癌前是否吸烟分为吸烟组(n=102)和不吸烟组(n=100),比较2组患者DLC-1、PCDH10表达水平以及NQO1基因多态性。根据患者术后复发情况分为复发组和未复发组,并分析上述基因多态性与患者复发之间的相关性。结果吸烟组DLC-1阳性表达比例显著低于不吸烟组患者(P<0.05)。另外染色结果表明:DLC-1在正常胃组织、癌旁组织和癌组织中表达水平分别呈现高表达、中表达、低表达,免疫反应性逐渐减弱;吸烟组患者PCDH10 mRNA表达量显著高于不吸烟组(P<0.05),且2组患者胃癌组织PCDH10 mRNA表达量显著高于癌旁组织(P<0.05);术后发生胃癌复发患者的DCL-1阴性率、胃癌组织PCDH10 mRNA水平以及NQO1基因CT和TT型比例均显著高于未复发组患者(P<0.05);Logistic回归分析结果发现DCL-1阴性率、胃癌组织PCDH10 mRNA水平以及NQO1基因多态性均与胃癌患者ESD术后复发存在密切相关性(P<0.05)。结论吸烟、NQOI基因多态性、DLC-1阴性和PCDH10高表达会增加胃癌发生风险,DLC-1阴性与胃癌ESD术后复发存在显著负相关,吸烟、PCDH10表达水平以及NQO1基因多态性与胃癌ESD术后复发存在显著正相关。展开更多
AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pedia...AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30. The Sanger sequencing was used to verify the variations detected in NGS. RESULTS: Out of the 13 pediatric patients, ten were diagnosed with Crohn's disease, and three diagnosed with ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and FUT2 polymorphisms, and two patients had IL-10RB and FUT2 polymorphisms. Gene variations were not found in the rest four patients. Children with mutations had lower percentile body weight ( 1.0% vs 27.5%, P = 0.002) and hemoglobin ( 87.4 g/L vs 108.5 g/L, P = 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in the mutation group, there was no significant difference in these factors between groups. CONCLUSION: IL-10RA and IL-10RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer展开更多
基金Supported by National Nature Science Foundation of China,No.81400588
文摘AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30. The Sanger sequencing was used to verify the variations detected in NGS. RESULTS: Out of the 13 pediatric patients, ten were diagnosed with Crohn's disease, and three diagnosed with ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and FUT2 polymorphisms, and two patients had IL-10RB and FUT2 polymorphisms. Gene variations were not found in the rest four patients. Children with mutations had lower percentile body weight ( 1.0% vs 27.5%, P = 0.002) and hemoglobin ( 87.4 g/L vs 108.5 g/L, P = 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in the mutation group, there was no significant difference in these factors between groups. CONCLUSION: IL-10RA and IL-10RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer
