乳腺癌易感基因1相关环结构域蛋白1基因多态性与肾母细胞瘤的相关性  

Association between breast cancer susceptibility gene 1-associated RING domain protein 1 gene polymorphism and risk of nephroblastoma

作　　者：吴强[1] 黄河[1] 陈兴和[1] 林良烽[2] Wu Qiang;Huang He;Chen Xinghe;Lin Liangfeng(Department of Pediatric Surgery,the First Affiliated Hospital of Fujian Medical University,Fuzhou 350004,China;Department of Pediatrics,Fujian Medical University 2nd Affiliated Hospital,Quanzhou 362000,China)

机构地区：[1]福建医科大学附属第一医院小儿外科,福州350004 [2]福建医科大学附属第二医院儿科,泉州362000

出　　处：《中华实验外科杂志》2020年第7期1277-1279,共3页Chinese Journal of Experimental Surgery

摘　　要：目的探讨乳腺癌易感基因1(BRCA1)相关的环结构域蛋白1(BARD1)基因多态性与肾母细胞瘤易感性的关系。方法选取确诊为肾母细胞瘤的患者108例作为观察组,选取同期体检中心健康儿童300例为对照组。两组性别和年龄比较差异无统计学意义(P>0.05)。测定两组BARD1基因上rs7585356、rs6435862和rs3768716位点的基因多态性,并分析其与儿童肾母细胞瘤易感性的相关性。采用χ2检验比较病例和对照之间人口统计学变量和基因型分布的差异。采用非条件Logistic回归计算比值比(OR)及其95%置信区间(CI)。结果调整性别和年龄后,在rs7585356位点上,与野生纯合子基因型GG比较,突变纯合子AA显著增加肾母细胞瘤的发生风险[OR(95%CI):2.04(1.09~2.93)]。遗传风险评分(GRS)1~3分组人群发生肾母细胞瘤的风险是0分组的1.94倍(95%CI:1.11~3.34),4~6组人群发生肾母细胞瘤的风险是0分组的2.64倍(95%CI:1.23~5.62)。结论 BARD1基因多态性可增加儿童肾母细胞瘤的发生风险。Objective:To investigate the association between breast cancer susceptibility gene 1(BRCA1)-related ring domain protein 1(BARD1)gene polymorphism and risk of nephroblastoma.Methods:One hundred and eight newly diagnosed nephroblastoma patients in our hospital from July 2014 to July 2019 were included as observation group,and 300 healthy children who received health examination in our hospital physical examination center at the same time were included as control group.There was no significant difference in gender and age between the two groups(P>0.05).The genetic polymorphisms of rs7585356 GNA,rs6435862 TNG and rs3768716 ANG loci in BARD1 gene of the two groups were determined and their correlation with susceptibility to nephroblastoma in children was analyzed.Results:After adjusting for sex and age,homozygote AA mutation significantly increased the risk of nephroblastoma at rs7585356 locus[odds ratio(OR)(95%CI):2.04(1.09-2.93)]compared with wild homozygote genotype GG.The risk of nephroblastoma in Genetic risk score(GRS)of 1-3 group was 1.94 times higher than that in o score of group(95%CI:1.11-3.34).The risk of nephroblastoma in group scored 4-6 was 2.64 times higher than that in group scored 1-3(95%CI:1.23-5.62).Conclusion:BARD1 gene polymorphism may increase the risk of nephroblastoma in children.

关 键 词：乳腺癌易感基因1相关的环结构域蛋白1 多态性 肾母细胞瘤 易感性 

分 类 号：R737.11[医药卫生—肿瘤]