1Tianjing medical University, Tianjing, China.
BMC Musculoskelet Disord. 2012 Apr 20;13:59. doi: 10.1186/1471-2474-13-59.
Developmental dysplasia of the hip (DDH) is a congenital or acquired deformation or misalignment of the hip joint which affects mainly females. We hypothesized that HOXD9 gene could be regulated in acetabular size or shape and related in DDH developing.
Two hundred and nine Chinese Han female DDH patients and 173 ethnic, age matched healthy female controls were genotyped for HOXD9 two tag SNPs using sequenom method.
One of the two tag SNPs, rs711822, was not shown significantly differences in genotypic or allelic distribution between case and control group. Comparing the genotypic distribution of rs711819, there was significant differences between DDH patients group and control group (χ² = 7.54, df =2, P =0.023), and the association to DDH developing reached significance (P =0.045, OR =1.79, 95 % CI: 1.01-3.17 by dominant mode).
In conclusion, the association between one tag SNP of HOXD9 gene and the development of DDH reach significant in our study population, this result indicate the positive correlation between HOXD9 gene and DDH developing. Further study in larger sample size and different population as well as functional studies will help to understand the pathogenesis of DDH.
发育性髋关节发育不良(DDH)是一种髋关节先天性或获得性变形或错位的疾病,主要影响女性。我们假设 HOXD9 基因可能在髋臼大小或形状方面受到调节,并与 DDH 的发生有关。
使用Sequenom 方法对 209 名汉族女性 DDH 患者和 173 名种族和年龄匹配的健康女性对照者的 HOXD9 两个标签 SNP 进行基因分型。
两个标签 SNP 之一 rs711822 在病例组和对照组之间的基因型或等位基因分布没有显著差异。比较 rs711819 的基因型分布,DDH 患者组与对照组之间存在显著差异(χ²=7.54,df=2,P=0.023),并且与 DDH 发生的关联具有统计学意义(P=0.045,OR=1.79,95%CI:1.01-3.17,显性模式)。
总之,我们的研究人群中 HOXD9 基因的一个标签 SNP 与 DDH 的发生之间存在关联,这一结果表明 HOXD9 基因与 DDH 的发生之间存在正相关。进一步在更大的样本量和不同人群中进行研究以及功能研究将有助于了解 DDH 的发病机制。