Objective To investigate the association between single nucleotide polymorphisms(SNPs) of insulin-like growth factor type 1 receptor (IGF-IR) gene and idiopathic short stature(ISS) in Jiangxi area,and provide new thinking for preventing and treating of ISS.Methods A total of 295 Chinese subjects with clinically diagnosed ISS and 314 normal controls in Jiangxi area were recruited.SNPs were genotyped using the SNaPshot Multiplex System. Results Significant association of SNP rs2684788 with ISS was found in Jiangxi area population among allelic model(G vs.A,OR=1.685,95%CI=1.272,2.233,P<0.001),genotypes(GG v.s GA vs.AA,χ2=13.724,P<0.001),dominant model(GG+GA vs.AA:OR=1.887,95%CI=1.352~2.634,P<0.001).Significant association of SNP rs2684788(GG+GA genotypes) with IGF-1SDS was found (P<0.004).Conclusion Human IGF-1R gene SNP rs2684788 might be associated with ISS genetic susceptibility in Jiangxi area population,and might be associated with ISS clinical phenotype.
Key words
idiopathic short stature /
insulin-like growth factor type 1 receptor /
single nucleotide polymorphisms /
susceptibility
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