Qiu Xu S, Tang Nelson L S, Yeung Hiu-Yan, Qiu Yong, Cheng Jack C Y
Department of Orthopaedics and Traumatology, The Chinese University of Hong Kong, Hong Kong.
Clin Orthop Relat Res. 2007 Sep;462:53-8. doi: 10.1097/BLO.0b013e3180986dc2.
Although the etiology of scoliosis is multifactorial, genetic factors play an important role. Recent linkage studies on familial idiopathic scoliosis revealed multiple putative predisposition loci. A genetic association study is complementary to linkage studies in defining the genetic basis of complex traits of diseases like idiopathic scoliosis. The onset and progression of adolescent idiopathic scoliosis is a manifestation of aberrant growth in the spine. Meanwhile, a high proportion of patients with adolescent idiopathic scoliosis have additional phenotypes, which suggest systemic growth dys-regulation during puberty. The growth hormone-insulin-like growth factor axis plays the principle role in skeletal growth regulation. Because growth hormone receptor alleles were associated with body stature and response to growth hormone treatment, we hypothesized the growth hormone receptor is a candidate predisposing and disease modifier gene for adolescent idiopathic scoliosis. Five hundred ten girls with adolescent idiopathic scoliosis and 363 normal subjects were recruited. Curve severity, arm span, and bone mineral densities were recorded. Five polymorphisms were studied by polymerase chain reaction-restriction fragment length polymorphism. All the genotype and allele frequencies were comparable between groups. The Cobb angles among patients of different genotypes were similar. The growth hormone receptor did not appear to be a predisposing gene or disease modifier gene of adolescent idiopathic scoliosis.
尽管脊柱侧弯的病因是多因素的，但遗传因素起着重要作用。最近对家族性特发性脊柱侧弯的连锁研究揭示了多个假定的易感基因座。基因关联研究在确定特发性脊柱侧弯等疾病复杂性状的遗传基础方面是对连锁研究的补充。青少年特发性脊柱侧弯的发病和进展是脊柱异常生长的一种表现。同时，很大比例的青少年特发性脊柱侧弯患者有其他表型，这表明青春期存在全身性生长调节异常。生长激素 - 胰岛素样生长因子轴在骨骼生长调节中起主要作用。由于生长激素受体等位基因与身高及对生长激素治疗的反应有关，我们推测生长激素受体是青少年特发性脊柱侧弯的一个候选易感和疾病修饰基因。招募了510名青少年特发性脊柱侧弯女孩和363名正常受试者。记录了侧弯严重程度、臂展和骨密度。通过聚合酶链反应 - 限制性片段长度多态性研究了五个多态性。各组间所有基因型和等位基因频率均具有可比性。不同基因型患者的Cobb角相似。生长激素受体似乎不是青少年特发性脊柱侧弯的易感基因或疾病修饰基因。
