本文選題：特發(fā)性矮小　切入點：胰島素樣生長因子-1受體　出處：《南昌大學(xué)》2012年碩士論文

【摘要】：目的：探討人胰島素樣生長因子-1受體（IGF-1R）基因單核苷酸多態(tài)性(SNP)位點與特發(fā)性矮小(ISS)遺傳易感性的關(guān)系。 方法：采用“病例-對照研究”,應(yīng)用SNaPshot技術(shù)平臺檢測2008年至2011年在江西省兒童醫(yī)院、上海瑞金醫(yī)院、鄭州市兒童醫(yī)院確診的715例ISS患兒（ISS組）,575名身高正常人（對照組）共1290個樣本的IGF-1R基因SNP位點；采用χ2檢驗或Armitage趨勢檢驗分析病例組和正常對照組IGF-1R基因SNP基因型、等位基因、顯隱性模式,采用t檢驗或秩和檢驗分析基因型與臨床參數(shù)的關(guān)系，P0.05為結(jié)果有統(tǒng)計學(xué)差異;統(tǒng)計均在SPSS19.0軟件完成。 結(jié)果：○1初篩階段，通過對275例ISS組和379例對照組的IGF-1R基因46個標簽SNP位點進行統(tǒng)計學(xué)分析發(fā)現(xiàn)，2個陽性SNP位點rs1976667(P=0.03636)及rs2684788(P=0.01352)與ISS有關(guān)。 ○2驗證階段，兩個SNP等位基因分布頻率、基因型分布頻率、顯隱性模型中基因型的“病例-對照”關(guān)聯(lián)分析結(jié)果無統(tǒng)計學(xué)意義。 ③性別分層后，男性rs1976667位點不同基因型與ISS遺傳易感性有關(guān)（P=0.047），，攜帶（GG+GA）基因型（P=0.018）與ISS遺傳易感性有關(guān)，可能是ISS的保護性因素（0OR1）；男性rs2684788位點G等位基因與ISS遺傳易感性有關(guān)（P=0.016），攜帶（GG+GA）基因型（P=0.016）與ISS遺傳易感性有關(guān)，為ISS的保護性因素（0OR1）；女性rs1976667位點不同基因型與ISS的遺傳易感性有關(guān)（P=0.011）,(GG+GA)基因型與ISS遺傳易感性有關(guān)（P=0.005），是ISS的中度危險因素（1OR2）。女性rs2684788位點不同基因型（P=0.005）與ISS的遺傳易感性有關(guān)，G等位基因（P=0.005）與ISS的遺傳易感性有關(guān)，是ISS的中度危險因素，風(fēng)險為A等位基因的1.698倍，(GA+AA)基因型（P=0.005）與ISS遺傳易感性有關(guān)，可能是ISS的中度危險因素（1OR2）。 ○4女性ISS組rs1976667位點（GG+GA）基因型(P=0.006)的IGF-1SDS比較有統(tǒng)計學(xué)差異(P0.05)，提示（GG+GA）基因型與IGF-1SDS值有關(guān)。 結(jié)論：人IGF1R基因的rs1976667,rs2684788位點可能與不同性別ISS的遺傳易感性有關(guān)；ISS不同的臨床表型可能和SNP位點多態(tài)性有關(guān)。
[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.

【學(xué)位授予單位】：南昌大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R725.8

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