遵义医科大学学报2023，Vol.46Issue(12)：1176-1184,1189,10.
基于MiniSeq技术分析SOX1O,NRG1,NRG3基因单核苷酸多态性与先天性巨结肠症的相关性
Study on the correlation between single nucleotide polymorphisms of SOX10,NRG1,NRG3 genes and Hirschsprung disease based on MiniSeq technique
摘要
Abstract
Objective Based on MiniSeq gene sequencing technology,multiple loci single nucleotide polymor-phisms of NRG1,NRG3 and SSOX10 genes in patients with Hirschsprung's disease(HD)were detected,and their correlation with the incidence of HD was discussed.Methods 74 children diagnosed with HD from February 2019 to February 2023 in our hospital were selected as the case group,and 83 healthy children were included in the control group during the same period.Single nucleotide polymorphism(SNP)of NRG1,NRG3 and SOX 10 genes in the two groups was detected based on MiniSeq gene sequencing technology to explore the correlation be-tween different genotypes and HD.Independent risk factors for HD were screened by Logistic regression analysis,and a nomogram model for predicting HD was constructed according to the screened factors,and the model was then verified.Results There was no significant difference in the distribution frequency of rs10748842,rs139884,rs16879552,rs10883866 and rs6584400 genotypes between the case and control groups(P＞0.05).The num-ber of patients with CG and GG genotypes at rs2439302 of NRG1 gene in the case group was significantly higher than that in the control group,and the number of patients with GC and CC genotypes at rs7835688 was signifi-cantly higher than that in the control group(P＜0.05).Multivariate analysis showed that gender,maternal ac-tive/passive smoking during pregnancy,maternal exposure to toxic substances,rs2439302-G and rs7835688-C alleles were independent influencing factors for the incidence of HD.A nomogram prediction model was construc-ted based on the selected risk factors.The area under the curve before and after internal verification was 0.837 and 0.841,the sensitivity was 86.5％and 89.2％,the specificity was 77.1％and 78.3％,respectively,and the accuracy was good.Conclusion NRG1 is a susceptibility gene for HD,rs2439302-G and rs7835688-C are risk alleles for HD,while rs16879552,rs139884,rs10748842,rs10883866 and rs6584400 had no significant correlation with HD;The nomogram model based on gender,maternal active/passive smoking during pregnancy,maternal exposure to toxic substances,and rs2439302-G and rs7835688-C had a good predictive effect on the risk of HD.关键词
MiniSeq/SOX10基因/NRG1基因/NRG3基因/先天性巨结肠症/单核苷酸多态性Key words
MiniSeq/SOX10 gene/NRG1 gene/NRG3 gene/hirschsprung's disease/single nucleotide poly-morphism分类
医药卫生引用本文复制引用
王意,刘应松,马达..基于MiniSeq技术分析SOX1O,NRG1,NRG3基因单核苷酸多态性与先天性巨结肠症的相关性[J].遵义医科大学学报,2023,46(12):1176-1184,1189,10.基金项目
东莞市社会科技发展(重点)项目(NO:201950715028167). （重点）
