Dai Jin, Shi Dongquan, Zhu Pengsheng, Qin Jianghui, Ni Haijian, Xu Yong, Yao Chen, Zhu Lunqing, Zhu Hongtao, Zhao Baocheng, Wei Jia, Liu Baorui, Ikegawa Shiro, Jiang Qing, Ding Yitao
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing 210008, Jiangsu, PR China.
Arthritis Res Ther. 2008;10(5):R126. doi: 10.1186/ar2540. Epub 2008 Oct 24.
Congenital dysplasia of the hip is an abnormal seating of the femoral head in the acetabulum, mainly caused by shallow acetabulum and lax joint capsule. Genetic factors play a considerable role in the pathogenesis of congenital dysplasia of the hip. The gene growth differentiate factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in humans and mice. A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility. As a key regulator in morphogenesis of skeletal components and soft tissues in and around the joints, GDF5 may be involved in the aetiology and pathogenesis of congenital dysplasia of the hip. Our objective is to evaluate if the GDF5 SNP is associated with congenital dysplasia of the hip in people of Han Chinese origin.
The GDF5 SNP was genotyped in 338 children with congenital dysplasia of the hip and 622 control subjects.
The SNP was significantly associated with congenital dysplasia of the hip (p = 0.0037; odds ration (OR) = 1.40; 95% confidence interval (CI) = 1.11 to 1.75). A significant difference was detected in female samples when stratified by gender (p = 0.0053; OR = 1.46; 95% CI = 1.21 to 1.91), and in hip dislocation when stratified by severity (p = 0.0078; OR = 1.43; 95% CI = 1.11 to 1.85).
Our results indicate that GDF5 is important in the aetiology of congenital dysplasia of the hip. To the authors' knowledge this is the first time that a definite association with the congenital dysplasia of the hip susceptibility has been detected.
先天性髋关节发育不良是股骨头在髋臼中的异常位置，主要由髋臼浅和关节囊松弛引起。遗传因素在先天性髋关节发育不良的发病机制中起重要作用。生长分化因子5（GDF5）基因已被证明与人类和小鼠的骨骼发育及关节形态发生有关。据报道，GDF5基因5'-非翻译区的一个功能性单核苷酸多态性（SNP，rs143383）与骨关节炎易感性相关。作为关节及其周围骨骼成分和软组织形态发生的关键调节因子，GDF5可能参与先天性髋关节发育不良的病因和发病机制。我们的目的是评估GDF5 SNP是否与汉族人群的先天性髋关节发育不良相关。
对338例先天性髋关节发育不良儿童和622例对照受试者进行GDF5 SNP基因分型。
该SNP与先天性髋关节发育不良显著相关（p = 0.0037；优势比（OR）= 1.40；95%置信区间（CI）= 1.11至1.75）。按性别分层时，女性样本中检测到显著差异（p = 0.0053；OR = 1.46；95% CI = 1.21至1.91）；按严重程度分层时，髋关节脱位中检测到显著差异（p = 0.0078；OR = 1.43；95% CI = 1.11至1.85）。
我们的结果表明，GDF5在先天性髋关节发育不良的病因中起重要作用。据作者所知，这是首次检测到与先天性髋关节发育不良易感性有明确关联。
