IGF-1R基因多态性与特发性矮小遗传易感性的关系

发布时间：2018-03-23 12:55

本文选题：特发性矮小　切入点：胰岛素样生长因子-1受体　出处：《南昌大学》2012年硕士论文

【摘要】：目的：探讨人胰岛素样生长因子-1受体（IGF-1R）基因单核苷酸多态性(SNP)位点与特发性矮小(ISS)遗传易感性的关系。方法：采用“病例-对照研究”,应用SNaPshot技术平台检测2008年至2011年在江西省儿童医院、上海瑞金医院、郑州市儿童医院确诊的715例ISS患儿（ISS组）,575名身高正常人（对照组）共1290个样本的IGF-1R基因SNP位点；采用χ2检验或Armitage趋势检验分析病例组和正常对照组IGF-1R基因SNP基因型、等位基因、显隐性模式,采用t检验或秩和检验分析基因型与临床参数的关系，P0.05为结果有统计学差异;统计均在SPSS19.0软件完成。结果：○1初筛阶段，通过对275例ISS组和379例对照组的IGF-1R基因46个标签SNP位点进行统计学分析发现，2个阳性SNP位点rs1976667(P=0.03636)及rs2684788(P=0.01352)与ISS有关。 ○2验证阶段，两个SNP等位基因分布频率、基因型分布频率、显隐性模型中基因型的“病例-对照”关联分析结果无统计学意义。 ③性别分层后，男性rs1976667位点不同基因型与ISS遗传易感性有关（P=0.047），，携带（GG+GA）基因型（P=0.018）与ISS遗传易感性有关，可能是ISS的保护性因素（0OR1）；男性rs2684788位点G等位基因与ISS遗传易感性有关（P=0.016），携带（GG+GA）基因型（P=0.016）与ISS遗传易感性有关，为ISS的保护性因素（0OR1）；女性rs1976667位点不同基因型与ISS的遗传易感性有关（P=0.011）,(GG+GA)基因型与ISS遗传易感性有关（P=0.005），是ISS的中度危险因素（1OR2）。女性rs2684788位点不同基因型（P=0.005）与ISS的遗传易感性有关，G等位基因（P=0.005）与ISS的遗传易感性有关，是ISS的中度危险因素，风险为A等位基因的1.698倍，(GA+AA)基因型（P=0.005）与ISS遗传易感性有关，可能是ISS的中度危险因素（1OR2）。 ○4女性ISS组rs1976667位点（GG+GA）基因型(P=0.006)的IGF-1SDS比较有统计学差异(P0.05)，提示（GG+GA）基因型与IGF-1SDS值有关。结论：人IGF1R基因的rs1976667,rs2684788位点可能与不同性别ISS的遗传易感性有关；ISS不同的临床表型可能和SNP位点多态性有关。
[Abstract]:Objective: To investigate the relationship between the single nucleotide polymorphisms (SNP) loci of the human insulin-like growth factor -1 receptor (IGF-1R) gene and the genetic susceptibility to idiopathic dwarf (ISS).
Methods: a case-control study, the application of SNaPshot technology platform in 2008 to 2011 in the detection of children's Hospital, Jiangxi Shanghai Ruijin Hospital, 715 cases of ISS patients in Zhengzhou city children's hospital diagnosed (ISS group) and 575 normal people (control group) is a total of 1290 samples of IGF-1R SNP gene using chi square test analysis; 2 test or Armitage trend and the normal control group IGF-1R gene SNP genotype in cases, allele, recessive model, relationship with t test or rank sum test and analysis of genotype and clinical parameters, P0.05 results were statistically difference; statistical analysis was completed by SPSS19.0.
Results: in the early stage of screening, 275 IGF-1R and 46 SNP SNP loci of ISS group and 379 control group were statistically analyzed, and 2 positive SNP loci rs1976667 (P=0.03636) and rs2684788 (P=0.01352) were found to be related to ISS.
2. At the validation stage, there were two SNP allele frequencies and genotype frequencies.
The gender stratification, male rs1976667 loci associated with the genetic susceptibility of ISS (P=0.047), carrying (GG+GA) genotype (P=0.018) associated with ISS genetic susceptibility may be a protective factor of ISS (0OR1); male rs2684788 G allele of ISS gene and genetic susceptibility (P=0.016), carrying (GG+GA) genotype (P=0.016) associated with ISS genetic susceptibility, is a protective factor of ISS (0OR1); female rs1976667 loci and the genetic susceptibility to ISS (P=0.011), (GG+GA) genotype associated with genetic susceptibility of ISS (P=0.005), is a moderate risk factor of ISS (1OR2). Female rs2684788 loci (P=0.005) associated with ISS genetic susceptibility, G allele (P=0.005) associated with genetic susceptibility to ISS, is a moderate risk factors of ISS, the risk was 1.698 times of the A allele (GA+AA genotype), ISS (P=0.005) and genetic susceptibility Sensibility related, may be the moderate risk factor of ISS (1OR2).
0. 4 the rs1976667 loci (GG+GA) genotype (P=0.006) of the female ISS group had a statistically significant difference (P0.05), suggesting that the genotype of (GG+GA) was associated with the IGF-1SDS value.
Conclusion: the rs1976667 and rs2684788 loci of human IGF1R gene may be related to the genetic susceptibility of different gender ISS, and the different clinical phenotype of ISS may be related to polymorphism of SNP locus.

【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.8

【参考文献】