江西省特发性矮小症与IGF-1R基因多态性相关性研究

doi:10.11852/zgetbjzz2015-23-07-11

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (7): 710-712.DOI: 10.11852/zgetbjzz2015-23-07-11

江西省特发性矮小症与IGF-1R基因多态性相关性研究

杨玉¹,黄慧¹,余珍¹,王伟²,杨利¹,黄薇³,谢理玲¹

1 江西省儿童医院内分泌遗传代谢科,江西南昌 330006;
2 上海交通大学医学院附属瑞金医院儿科,上海 200030;

3 国家人类基因组南方研究中心,上海 201203

收稿日期:2014-12-02 发布日期:2015-07-10 出版日期:2015-07-10
作者简介:杨玉(1964-),女,主任医师,教授,硕士生导师,主要研究方向为儿科内分泌遗传代谢病。
基金资助:
国家自然科学基金项目(81460501)

Association between polymorphisms of IGF-1R gene and idiopathic short stature in Jiangxi province.

YANG Yu¹,HUANG Hui¹,YU Zhen¹,WANG Wei²,YANG Li¹,HUANG Wei³,XIE Li-ling¹.

1 Department of Endocrinology,Genetics and Metabolism,Jiangxi Provincial Children'
s Hospital,Nanchang,Jiangxi 330006,China;
2 Department of Pediatrics,Ruijin Hospital,Medical School of Shanghai Jiaotong University,Shanghai 200030,China;
3 Key Laboratory of Health and Disease Genomics,Chinese National Human Genome Center at Shanghai,Shanghai 201203,China

Received:2014-12-02 Online:2015-07-10 Published:2015-07-10

摘要/Abstract

摘要： 目的探讨江西省特发性矮小症与人胰岛素样生长因子受体-1(insulin-like growth factor type 1 receptor,IGF-1R)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)位点遗传易感性的关系,为研究ISS的病因提供新的思路。方法选择江西省295例特发性矮小症(idiopathic short stature,ISS)患儿(ISS组),314名身高正常儿童(对照组),用SNaPshot技术平台进行基因分型。结果江西省ISS患者rs2684788位点等位基因(G vs.A,OR=1.685,95%CI=1.272,2.233,P<0.001)、不同基因型(GG vs.GA vs.AA,χ²=13.724,P<0.001)与ISS遗传易感性有关,呈G显性遗传模式(GG+GA vs.AA:OR=1.887,95%CI=1.352~2.634,P<0.001);ISS组rs2684788位点(GG+GA)基因型与IGF-1SDS比较差异有统计学意义,提示(GG+GA)基因型与IGF-1SDS 值有关(P=0.004)。结论人IGF1R基因rs2684788位点可能与江西省ISS的遗传易感性有关;ISS不同的临床表型可能和SNP位点多态性有关。

关键词: 特发性矮小症, 胰岛素样生长因子受体-1, 单核苷酸多态性, 遗传易感性

Abstract: 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

中图分类号:

R725.8

杨玉,黄慧,余珍,王伟,杨利,黄薇,谢理玲. 江西省特发性矮小症与IGF-1R基因多态性相关性研究[J]. 中国儿童保健杂志, 2015, 23(7): 710-712.

YANG Yu,HUANG Hui,YU Zhen,WANG Wei,YANG Li,HUANG Wei,XIE Li-ling.. Association between polymorphisms of IGF-1R gene and idiopathic short stature in Jiangxi province.[J]. journal1, 2015, 23(7): 710-712.

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江西省特发性矮小症与IGF-1R基因多态性相关性研究

Association between polymorphisms of IGF-1R gene and idiopathic short stature in Jiangxi province.

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