Association of single nucleotide polymorphism of insulin-like growth factor-1 receptor with genetic susceptibility in different gender children with idiopathic short stature
10.3760/cma.j.issn.2095-428X.2013.08.014
- VernacularTitle:不同性别特发性矮小患儿胰岛素样生长因子-1受体基因多态性与遗传易感性的相关性
- Author:
Yu YANG
1
;
Hui HUANG
;
Wei WANG
;
Li YANG
;
Li-Ling XIE
;
Wei HUANG
;
Xian WU
Author Information
1. 江西省儿童医院内分泌科
- Keywords:
Idiopathic short stature;
Insulin-like growth factor-1 receptor;
Single nucleotide polymorphisms;
Genetic susceptibility
- From:
Chinese Journal of Applied Clinical Pediatrics
2013;28(8):606-609
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the association between single nucleotide polymorphisms (SNP) in insulinlike growth factor-1 receptor gene(IGF-1R gene) and susceptibility to idiopathic short stature (ISS).Methods Casecontrol 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 genotyped 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 associated with genetic susceptibility to ISS(P =0.012),showing the G dominant inheritance(P =0.003).Different genotypes at rs2684788 locus genotypes (P =0.005),G allele (P =0.006) and G recessive mode (P ＜ 0.001) were all statistically 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.
