ESPE Abstracts (2016) 86 P-P1-606

The Role of IGF-1R Gene Polymorphisms with Regard to Susceptibility to Idiopathic Short Stature Risk in the Chinese Population of Jiangxi Area

Yu Yanga, Hui Huanga, Zhen Yua, Wei Wangb, Li Yanga, Wei Huangc & Liling Xiea


aDepartment of Endocrinology, Genetics and Metabolism, Jiangxi Provincial Children’s Hospital, Nanchang, China; bDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; cKey Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai, Shanghai, China


Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.

Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.

Method: A total of 609 samples (ISS=295, control=314) from Jiangxi area were controls were enrolled in this study. The possible associations between 46 tag SNPs and progression risk among 295 patients were investigated using a two-step case-control study with a discovery cohort (n=100) and a validation cohort(n=195). SNPs (rs2684788) were genotyped using the SNaPshot Multiplex System.

Results: We found that the rs2684788 in the IGF1R gene is associated with ISS in population of Jiangxi area among allelic model (G vs. A, OR=1.685, 95%CI=1.272, 2.233, P<0.001), genotypes (GG vs. 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). Notably, for individuals having the rs2684788 with the GG/GA genotype, the magnitude of increased ISS riks for lower IGF-1SDS was significantly elevated (P<0.004).

Conclusion: The results suggested that the human IGF1R gene SNP rs2684788 might be associated with ISS genetic susceptibility in population of Jiangxi area, and might be associated with ISS clinical phenotype.

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