CAJ | 학술논문

目的探讨人胰岛素样生长因子-1受体(IGF-1R)基因单核苷酸多态性(SNPs)与特发性矮小(ISS)男童遗传易感性的关系.方法选择523例ISS男童(病例组),286名身高正常男童(正常对照组),用SNaPshot技术平台进行基因分型.结果男童中,IGF-1R基因rs1976667位点不同基因型与ISS遗传易感性有关(P =0.047),呈G显性遗传(P =0.020),在G显性遗传模式下与遗传靶身高标准差积分值(THSDS)相关；IGF-1R基因rs2684788位点G等位基因与ISS遗传易感性有关(P =0.021),呈G显性遗传(P＜0.001),在G显性遗传模式下与THSDS及体重指数(BMI)相关.结论人IGF-1R基因的rs1976667、rs2684788位点可能与ISS男童的遗传易感性有关.
목적 탐토인이도소양생장인자-1수체(IGF-1R)기인단핵감산다태성(SNPs)여특발성왜소(ISS)남동유전역감성적관계.방법 선택523례ISS남동(병례조),286명신고정상남동(정상대조조),용SNaPshot기술평태진행기인분형.결과 남동중,IGF-1R기인rs1976667위점불동기인형여ISS유전역감성유관(P =0.047),정G현성유전(P =0.020),재G현성유전모식하여유전파신고표준차적분치(THSDS)상관；IGF-1R기인rs2684788위점G등위기인여ISS유전역감성유관(P =0.021),정G현성유전(P＜0.001),재G현성유전모식하여THSDS급체중지수(BMI)상관.결론 인IGF-1R기인적rs1976667、rs2684788위점가능여ISS남동적유전역감성유관.
Objective To investigate the association between single nucleotide polymorphisms (SNPs) in insulin-like growth factor(IGF)-1 receptor(IGF-1R) gene and idiopathic short stature(ISS) boys.Methods 523 Boys with ISS and 286 normal boys were recruited.SNPs were genotyped using the SNaPshot Multiplex System.Results In boys different genotypes of IGF-1R gene rs1976667 locus were associated with genetic susceptibility of the ISS (P =0.047),showing dominant inheritance G (P =0.020).In this mode,genotype was related to the genetic target height SDS;G allele locus of IGF-1R gene rs2684788was associate with genetic susceptibility of ISS (P =0.021),showing dominant inheritance G (P ＜ 0.001).In this mode,genotype was related to the genetic target height SDS and body mass index(BMI).Conclusion Human IGF-1R gene rs1976667,rs2684788 locus may be related with genetic susceptibility of boys with ISS.