Tekcan D, Baş F, Atalar F, Aydin B K, Akan G, Tarhan T, Bundak R, Darendeliler F
Pediatric Endocrinology Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Exp Clin Endocrinol Diabetes. 2012 Jul;120(7):395-400. doi: 10.1055/s-0032-1314810. Epub 2012 Jun 11.
Idiopathic short stature (ISS) refers to pathophysiologically wide and heterogeneous range of disorders, which are considered to involve defects in growth hormone (GH) insulin like growth factor-1 (IGF-1) axis. This study was designed to evaluate GH- IGF-1 axis and investigate IGF-1 gene polymorphisms in ISS.108 patients with a mean age of 11.7±3.6 years constituted the study group, while 108 age and gender matched children with normal stature constituted the control group. Serum IGF-1 and insulin-like growth factor binding protein-3 (IGFBP-3) levels and two polymorphisms in IGF-1 gene (rs35767, rs17032362) were investigated.While mean IGF-1 SDS value was lower in study group (p=0.002), no difference was detected between mean IGFBP-3 SDS values. The IGF-1 gene rs35767 polymorphism genotype distribution did not exhibit a statistical difference between study (7.1% wild type, 29.6% heterozygous, 63.3% homozygous) and control groups (3.8% wild type, 39.6% heterozygous, 56.6% homozygous). IGF-1 gene rs17032362 polymorphism genotype distribution was not significantly different either between study (94.8% wild type, 5.2% heterozygous, 0% homozygous) and control groups (97.2% wild type, 2.8% heterozygous, 0% homozygous). Comparing the cases with wild type, homozygous and heterozygous carriers for both polymorphisms with respect to height, weight, BMI, IGF-1 and IGFBP-3 SDS values, no significant difference was detected.IGF-1 SDS levels of patients with ISS were significantly lower compared to control group. There was no difference between IGFBP-3 SDS levels. No effect of IGF-1 gene rs35767 and rs17032362 polymorphisms on stature, IGF-1 and IGFBP-3 levels could be demonstrated.
特发性矮小（ISS）指的是一系列病理生理范围广泛且异质性的疾病，这些疾病被认为涉及生长激素（GH）-胰岛素样生长因子-1（IGF-1）轴的缺陷。本研究旨在评估GH-IGF-1轴，并调查ISS患者的IGF-1基因多态性。108名平均年龄为11.7±3.6岁的患者组成研究组，108名年龄和性别匹配的正常身高儿童组成对照组。研究了血清IGF-1和胰岛素样生长因子结合蛋白-3（IGFBP-3）水平以及IGF-1基因中的两个多态性（rs35767，rs17032362）。研究组的平均IGF-1 SDS值较低（p=0.002），但IGFBP-3 SDS平均值之间未检测到差异。IGF-1基因rs35767多态性的基因型分布在研究组（7.1%野生型，29.6%杂合子，63.3%纯合子）和对照组（3.8%野生型，39.6%杂合子，56.6%纯合子）之间未表现出统计学差异。IGF-1基因rs17032362多态性的基因型分布在研究组（94.8%野生型，5.2%杂合子，0%纯合子）和对照组（97.2%野生型，2.8%杂合子，0%纯合子）之间也无显著差异。比较两种多态性的野生型、纯合子和杂合子携带者在身高、体重、BMI、IGF-1和IGFBP-3 SDS值方面的情况，未检测到显著差异。与对照组相比，ISS患者的IGF-1 SDS水平显著较低。IGFBP-3 SDS水平之间无差异。未证明IGF-1基因rs35767和rs17032362多态性对身高、IGF-1和IGFBP-3水平有影响。
