GENETIC ASPECTS OF IDIOPATHIC ESCOLIOSIS - A LITERATURE REVIEW

ABSTRACT The idiopathic scoliosis (IS) is the most common form of spinal deformity. The pathogenesis of IS is still poorly understood. Several studies show evidence that the genetic component is determinant to the development of IS. In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. This review highlights the genes and genetic polymorphisms currently studied, identified as influential in the genesis of IS, such as MMP-3, IL-6, type I collagen, and vitamin D and estrogen receptors. We concluded that IS remains a complex disease with a polygenic background and that genetic polymorphisms are intrinsically related to this condition. Level of evidence III; Narrative Review.

摘要：特发性脊柱侧凸（idiopathic scoliosis, IS）是最为常见的脊柱畸形类型。目前其发病机制仍未得到充分阐明。多项研究证实，遗传因素在特发性脊柱侧凸的发生发展中发挥决定性作用。在此背景下，学界日益将研究重心转向相关致病基因、遗传多态性以及多个易感基因座的识别与解析。本综述重点梳理了当前研究中被证实对特发性脊柱侧凸发病具有影响的基因与遗传多态性，例如基质金属蛋白酶3（MMP-3）、白细胞介素6（IL-6）、I型胶原、维生素D受体以及雌激素受体。本综述最终得出结论：特发性脊柱侧凸仍是一种具有多基因遗传背景的复杂疾病，且遗传多态性与该病症存在内在关联。证据等级：III级；叙述性综述。