[1]汪瑞芳,伍宗辉,冯国维,等.陕西地区下颌前突患儿相关基因筛选及 GHR基因多态性相关分析研究[J].现代检验医学杂志,2022,37(01):56-60.[doi:10.3969/j.issn.1671-7414.2022.01.012]
　WANG Rui-fang,WU Zong-hui,FENG Guo-wei,et al.Screening of Related Genes and Correlation Analysis of GHR Gene Polymorphism in Children with Mandibular Protrusion inShaanxi Area[J].Journal of Modern Laboratory Medicine,2022,37(01):56-60.[doi:10.3969/j.issn.1671-7414.2022.01.012]
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陕西地区下颌前突患儿相关基因筛选及 GHR基因多态性相关分析研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第37卷
期数:
2022年01期
页码:
56-60
栏目:
论　著
出版日期:
2022-01-15

文章信息/Info

Title:
Screening of Related Genes and Correlation Analysis of GHR Gene Polymorphism in Children with Mandibular Protrusion inShaanxi Area
文章编号:
1671-7414（2022）01-056-05
作者:
汪瑞芳; 伍宗辉; 冯国维; 李亚奇; 宋佳凝; 杨相笛
( 西安市儿童医院口腔科，西安 710002)
Author(s):
WANG Rui-fang;  WU Zong-hui;  FENG Guo-wei;  LI Ya-qi;  SONG Jia-ning;  YANG Xiang-di
（Department of Stomatology, Xi’an Children’s Hospital, Xi’an 710002, China）
关键词:
下颌前突; 生长激素受体基因; 差异基因; 基因多态性
分类号:
R782.2；Q786
DOI:
10.3969/j.issn.1671-7414.2022.01.012
文献标志码:
A
摘要:
目的　分析陕西地区下颌前突患儿的相关基因及生长激素受体 (growth hormone receptor, GHR)基因多态性的相关分析。方法　选取 2018年 5月 ~2020年 5月西安市儿童医院口腔科收治的 112例陕西地区下颌前突患儿为观察组，另选取同期 112例健康儿童为对照组。在基因表达数据库 (gene expression omnibus, GEO)下载下颌前突基因患儿相关基因，再以 R软件和 Bioconductor筛选差异表达基因，采用 STRING 10.0软件对差异表达基因进行蛋白 -蛋白互作分析 (protein-protein interaction, PPI)和基因本体论 (gene ontology, GO)富集分析，筛选核心基因，分析核心基因的基因多态性和血清 GH水平。结果　通过 GSE38494数据集共获得 328个差异基因，其中上调 102个，下调 226个。差异表达基因中最大团中心性 (maximal clique centrality, MCC)评分前 10位的基因依次为 GHR，JAK3，STAT3，INS，IRS1， IGF1R，PRL，PTPN11，GH1和 SOCS3且均为上调。 PPI分析显示 GHR是下颌前突患儿致病的关键核心基因。 GO富集和 KEGG分析显示差异表达基因参与信号通路、内分泌失调、炎性反应、免疫反应及细胞因子活性。两组 GHR单核苷酸多态性 (single nucleotide polymorphisms, SNP)位点 rs1673的基因型频率和等位基因频率比较，差异具有统计学意义 (χ2=11.185，14.674，均 P<0.05)。观察组 SNP位点 rs1673等位基因 C频率较对照组显著增加，下颌前突发病风险显著增加 (95%CI=1.394~3.084，OR=1.726，P<0.05)。两组 GHR基因 SNPrs4130113，SNPrs4410646，SNPrs4866949， SNPrs61150458及 SNPrs6898743位点基因型和等位基因分布比较，差异均无统计学意义 (χ2=0.574~4.098，均 P>0.05)。观察组患儿血清 GH水平为 7.18±2.26 ng/ml，显著高于对照组 4.50±1.17 ng/ml，差异具有统计学意义 (t=11.145， P<0.001)。结论　陕西地区下颌前突患儿发病与多个基因差异表达有关，其中以 GHR基因为核心基因， GHR基因 SNP位点 rs1673突变与患儿下颌前突发病关系密切。
Abstract:
Objective　To analyze the correlation analysis of related genes and growth hormone receptor (GHR) genepolymorphisms in children with mandibular protrusion in Shaanxi area. Methods　A total of 112 children with mandibularprotrusion in Shaanxi region admitted to the Department of Stomatology, Xi’an Children’s Hospital from May 2018 to May 2020were selected as the observation group, and another 112 healthy children in the same period were selected as the control group.The related genes of children with mandibular protrusion gene were downloaded from Gene Expression Omnibus (GEO)database, and then the differentially expressed genes were screened by R software and Bioconductor. String 10.0 software wasused for protein-protein interaction (PPI) and gene ontology (GO) enrichment analysis of differentially expressed genes to screenthe core genes. The gene polymorphism of core genes and serum GH level were analyzed. Results　A total of 328 differentialgenes were obtained by GSE38494 dataset, among which 102 were up-regulated and 226 were down-regulated. Among thedifferentially expressed genes, the top 10 genes in maximal clique centrality (MCC) score were GHR, JAK3, STAT3, INS, IRS1,IGF1R, PRL, PTPN11, GH1 and SOCS3, and all of them were up-regulated. PPI analysis showed that GHR was a key core genein the pathogenesis of children with mandibular protrusion. GO enrichment and KEGG analysis showed that differentiallyexpressed genes were involved in signaling pathways, endocrine dysregulation, inflammatory response, immune response andcytokine activity. There were significant differences in the genotype and allele frequencies of single nucleotide polymorphisms(SNP) rs1673 between the two groups (χ2=11.185,14.674, all P<0.05). The SNP locus rs1673 allele C frequencyin the observation group was significantly higher than that in the control group, and the risk of mandibular premandibular suddendisease was significantly increased (95%CI=1.394~3.084, OR=1.726, P<0.05). The genotype and allele distribution ofSNPRS4130113, SNPRS4410646, SNPRS4866949, SNPRS61150458 and SNPRS6898743 of GHR genes between the twogroups were not statistically significant (χ2=0.574~4.098, P>0.05). The serum GH level in the observation group was 7.18±2.26ng/ml significantly higher than that in the control group 4.50±1.17 ng/ml, the difference was statistically significant (t=11.145,P<0.001). Conclusion　The incidence of mandibular protrusion in children in Shaanxi was related to the differential expressionof multiple genes, among which GHR gene was the most important. The rs1673 mutation of GHR gene SNP site was closelyrelated to the incidence of mandibular protrusion.

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备注/Memo

备注/Memo:
作者简介：汪瑞芳（1983-），女， 硕士，主治医师，研究方向：唇腭裂及颌面部脉管畸形，E-mail: 380175384@qq.com。
通讯作者：伍宗辉（1986-），男，硕士，主治医师，研究方向：唇腭裂及颌面部脉管畸形，E-mail: wooth12@163.com。
更新日期/Last Update: 1900-01-01