Objective: To study the association between single nucleotide polymorphism (SNP) of insulin-like growth factor I receptor (IGF-IR) gene and idiopathic short stature (ISS).
Methods: A total of 804 children with ISS and 575 normal controls were recruited from 2008 to 2011. IGF-IR gene SNP was genotyped using the Snapshot Multiplex System.
Results: The distribution frequency of genotype rs1976667 showed no significant difference between the ISS and the control groups, while that of the allele A of rs1976667 was significantly higher in the ISS group than in the control group (P<0.01).
Conclusions: The allele A at rs1976667 SNP of IGF-IR gene is a risk factor for ISS.