发育性髋节发育不良相关基因的系统研究

A Systematic Study of Genes Associated with Developmental Dysplasia of the Hip

发育性髋关节发育不良(Developmental Dysplasia of the Hip,简称DDH)是是一种涉及髋关节结构异常和功能障碍的疾病,然而其具体发病机制及原因仍不清楚。其发病特征在于以髋关节发育不良为基础,导致关节囊松弛,股骨近端继发畸形,在髋臼对股骨头覆盖不良的情况下,逐渐出现股骨头脱位或半脱位于髋臼之外的下肢畸形。髋臼变浅以至于对股骨头覆盖降低是DDH引发髋关节不稳定进而引发青少年和青年期骨关节炎的重要原因。遗传和环境因素在DDH的发病机制中起重要作用。其发病机制和易感性相关基因尚未阐明。我们评估了PubMed数据库中索引的各种遗传学研究。我们分析了纳入研究的基本信息,并总结了DDH相关的突变位点,动物模型实验,与DDH相关的表观遗传学变化。

Developmental Dysplasia of the Hip (DDH) is a disease that involves structural abnormalities and functional impairments of the hip joint. However, its specific pathogenesis and causes are still unclear. The characteristic of its onset is based on developmental dysplasia of the hip joint, leading to laxity of the joint capsule and secondary deformities of the proximal femur. In the case of poor coverage of the femoral head by the acetabulum, lower limb deformities gradually appear with dislocation or semi dislocation of the femoral head outside the acetabulum. The shallowness of the acetabulum to the extent of reduced coverage of the femoral head is an important cause of hip instability caused by DDH, leading to osteoarthritis in adolescents and youth. Genetic and environmental factors play important roles in the pathogenesis of DDH. The pathogenesis and susceptibility related genes have not yet been elucidated. We evaluated various genetic studies indexed in the PubMed database. We analyzed the basic information included in the study and summarized the mutation sites related to DDH, animal model experiments, and epigenetic changes related to DDH.