Associations Of IGF-1R Gene Polymorphisms With Susceptibility To Idiopathic Short Stature

Objective:To investigate the association between single nucleotidepolymorphisms(SNPs) in IGF-I receptor(IGF-IR) gene and idiopathic short stature(ISS).Methods:715Chinese subjects with clinically diagnosed ISS and575normalcontrols were recruited from2008to2011.SNPs were genotyped using the SNaPshotMultiplex System.Results:①A fter Screening，we found two positive loci rs1976667(P=0.03636) and rs2684788(P=0.01352) SNP are associated with ISS;②Found toexpand the sample validation, the two SNP allele frequency and genotype frequencydistribution of significant recessive genotype model “case–control” correlationanalysis showed no statistically significant;③After gender stratification，in male,the rs1976667locus in different genotypes is associated with ISS geneticsusceptibility (P=0.047), carry (GG+GA) genotype (P=0.018) is associated withISS genetic susceptibility, may be protective factors in the ISS(0<OR <1); in male,the rs2684788G allele is associated with ISS genetic susceptibility (P=0.016), tocarry (the GG+GA) genotype (P=0.016) is related to genetic predisposition and maybe protective factors in the ISS(0<OR <1); In female, the different genotypes ofrs1976667locus is associated with the ISS genetic susceptibility (P=0.011), the(GG+GA) genotype is associated with the ISS genetic susceptibility (P=0.005), is themoderate risk factors (1<OR <2) of ISS. In female,the different genotypes ofrs2684788(P=0.005) is associated with ISS genetic susceptibility, the G allele (P=0.005) is related to the genetic susceptibility in the ISS, is the moderate risk factors ofISS. The (GA+AA) genotype (P=0.005) is associated with ISS geneticsusceptibility,might be the moderate risk factors (1<OR <2) of ISS.④In femaleISS,in the (GG+GA) genotype (P=0.006) of rs1976667locus was significantdifference (P <0.05) for IGF-1SDS.Conclusion:Human IGF1R gene rs1976667, rs2684788locus may be a differentgender ISS genetic susceptibility; ISS different clinical phenotypes and SNP polymorphism may be relevant.