摘要
目的探讨人胰岛素样生长因子-1受体基因（IGF-1R基因）单核苷酸多态性（SNP）位点与特发性矮小（ISS）不同性别遗传易感性的关系。方法采用病例一对照研究方法，应用SNaPshot技术平台检测788例ISS患儿（ISS组，男523例、女265例）和572例身高正常儿童（健康对照组，男286例、女286例）的IGF-1R基因SNP位点。结果1.在男童中，rs1976667位点不同基因型与ISS遗传易感性有关（P=0．047），呈G显性遗传（P=0．020），与遗传靶身高SDS相关；rs2684788位点G等位基因与ISS遗传易感性有关（P=0．021），呈G显性遗传（P〈0．001），在G显性遗传模式下与遗传靶身高及体质量指数相关。2．在女童中，rs1976667位点不同基因型与ISS的遗传易感性有关（P=0．012），呈G显性遗传（P=0．003）。rs2684788位点不同基因型（P=0．005）、G等位基因（P=0．006）、G隐性模式（P〈0．001）与ISS遗传易感性有关。结论人IGF-1R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。
Objective To explore the association between single nucleotide polymorphisms（SNP） in insulin- like growth factor-1 receptor gene（IGF-1R gene） and susceptibility to idiopathic short stature （ISS）. Methods Case- control method was employed, an experimental group included 788 children with clinically diagnosed ISS （523 male and 265 female）and a healthy control group included 572 healthy children （286 male and 286 female）. SNPs were geno- typed by using the SNaPshot Multiplex System. Results 1. In male subjects, different genotypes at rs1976667 locus were statistically associated with genetic susceptibility to ISS （ P = 0.047 ）, showing the G dominant inheritance （ P = 0. 020） and being related to the genetic target height. G allele gene at rs2684788 locus was statistically associated with genetic susceptibility to ISS （ P = 0. 021 ）, showing G dominant inheritance （ P 〈 0. 001 ）, and being related to the genetic target height and body mass index. 2. In female subjects,different genotypes at rs1976667 locus were statistically asso- ciated with genetic susceptibility to ISS （ P = 0.012）, showing the G dominant inheritance （ P = 0.003 ）. Different geno- types at rs2684788 locus genotypes （ P = 0.005 ）, G allele （ P = 0.006） and G recessive mode （ P 〈 0.001 ） were all sta- tistically associated with genetic susceptibility to ISS. Conclusions The rs1976667 and rs2684788 locus of human IGF-1R gene were probably associated with genetic susceptibility to ISS of different gender. Different clinical phenotypes of ISS may be relevant to SNP polymorphism.
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2013年第8期606-609,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
特发性矮小
胰岛素样生长因子受体-1
单核苷酸多态性
遗传易感性
Idiopathic short stature
Insulin-like growth factor-I receptor
Single nucleotide polymorphisms
Genetic susceptibility
