Idiopathic short stature

Relationship between vitamin D receptor (VDR) polymorphisms and the efficacy of recombinant human growth hormone (rhGH) treatment in children with idiopathic short stature

W. Wang, Luo, X. P., Cai, L. X., Cui, Z. R., Luo, X. Y., and Luo, R. K., Relationship between vitamin D receptor (VDR) polymorphisms and the efficacy of recombinant human growth hormone (rhGH) treatment in children with idiopathic short stature, vol. 14, pp. 10507-10514, 2015.

Polymorphisms in the vitamin D receptor (VDR) gene are associated with idiopathic short stature (ISS) in several countries. This study aimed to identify a possible correlation between polymorphisms in the VDR promoter in Chinese children with ISS and the efficacy of the recombinant human growth hormone (rhGH) treatment. Pre-pubertal children with ISS and healthy age- and gender-matched children (N = 95 each) were enrolled in this study.

Association of insulin growth factor-1 receptor gene polymorphisms with genetic susceptibility to idiopathic short stature

Y. Yang, Huang, H., Wang, W., Yang, L., Xie, L. L., and Huang, W., Association of insulin growth factor-1 receptor gene polymorphisms with genetic susceptibility to idiopathic short stature, vol. 12, pp. 4768-4779, 2013.

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).

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