Yang Y, Huang H, Wang W, Yang L, Xie L L, Huang W
Department of Endocrinology, Jiangxi Province Children's Hospital, Nanchang Jiangxi, China
Genet Mol Res. 2013 Oct 18;12(4):4768-79. doi: 10.4238/2013.October.18.14.
The association between single nucleotide polymorphisms (SNPs) in the insulin-like growth factor-1 receptor (IGF-1R) gene and susceptibility to idiopathic short stature (ISS) was investigated. Seven hundred and twelve Chinese children clinically diagnosed with ISS and 575 normal individuals were recruited between 2008 and 2011, and their SNPs were genotyped. Preliminary screening revealed that the rs1976667 and rs2684788 loci were significantly associated with genetic susceptibility to ISS (P = 0.03636 and P = 0.01352, respectively). Stratification by sex revealed that in males, different genotypes at the rs1976667 locus were significantly associated with genetic susceptibility to ISS (P = 0.047), showing G dominant inheritance (P = 0.018). The G allele at the rs2684788 locus was significantly associated with genetic susceptibility to ISS (P = 0.016), showing G dominant inheritance (P < 0.001). In females, different genotypes at the rs1976667 locus were significantly associated with genetic susceptibility to ISS (P = 0.011), showing G dominant inheritance (P = 0.005). Different genotypes at the rs2684788 locus, the G allele, and the G recessive mode of inheritance were all significantly associated with genetic susceptibility to ISS (P < 0.005). The genotypes at the rs1976667 locus in the female ISS group were significantly correlated to IGF-1 standard deviation integral value (SDS) (P = 0.006). The rs1976667 and rs2684788 loci of the human IGF-1R gene are likely associated with different genetic susceptibilities to ISS in males and females. Different clinical phenotypes of ISS may be associated with SNPs of IGF-1R.
研究了胰岛素样生长因子-1受体（IGF-1R）基因单核苷酸多态性（SNP）与特发性矮小症（ISS）易感性之间的关联。2008年至2011年间招募了712例临床诊断为ISS的中国儿童和575例正常个体，并对他们的SNP进行基因分型。初步筛查显示，rs1976667和rs2684788位点与ISS的遗传易感性显著相关（分别为P = 0.03636和P = 0.01352）。按性别分层显示，在男性中，rs1976667位点的不同基因型与ISS的遗传易感性显著相关（P = 0.047），表现为G显性遗传（P = 0.018）。rs2684788位点的G等位基因与ISS的遗传易感性显著相关（P = 0.016），表现为G显性遗传（P < 0.001）。在女性中，rs1976667位点的不同基因型与ISS的遗传易感性显著相关（P = 0.011），表现为G显性遗传（P = 0.005）。rs2684788位点的不同基因型、G等位基因以及G隐性遗传模式均与ISS的遗传易感性显著相关（P < 0.005）。女性ISS组中rs1976667位点的基因型与IGF-1标准差积分值（SDS）显著相关（P = 0.006）。人类IGF-1R基因的rs1976667和rs2684788位点可能与男性和女性对ISS的不同遗传易感性相关。ISS的不同临床表型可能与IGF-1R的SNP相关。
