Association analysis between HOXD9 genes and the development of developmental dysplasia of the hip in Chinese female Han population

Wei Tian,Zhi Cheng,Longfei Cheng,Jian Jia,Binbin Wang,Lixi Zhao,Jing Wang,Jianmin Wang,Xu Ma,Peisu Suo,Shilian Kan

doi:10.1186/1471-2474-13-59

Abstract

BackgroundDevelopmental 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.MethodsTwo 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.ResultsOne 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).ConclusionIn 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.

Highlights

Developmental dysplasia of the hip (DDH) is a congenital or acquired deformation or misalignment of the hip joint which affects mainly females
There were no significant differences between the distributions of allele or genotype frequencies of rs711822 which located at the intronic region of HOXD9 gene
The association to DDH developing reached significance (P = 0.045, odds ratios (OR) =1.79, 95% CI: 1.01-3.17 by dominant mode)

Summary

Introduction

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. Developmental dysplasia of the hip (DDH) or congenital dislocation of the hip (CDH) (MIM number: 142700) is a congenital or acquired deformation or misalignment of the hip joint; include subluxation, dysplasia and dislocation [1] which affect approximately between 1 and 5 per 1000 in China [2]. HOXD gene cluster is involved in skeletal morphogenesis, especially 5′ HOXD gene (paralogous groups 9–13) play a crucial role in limb development [10]. Targeted mutagenesis and misexpression of individual and multiple HoxD genes in the animal model (mouse and chick) showed that the perturbation of Hox gene expression alters instead the size, shape of specific skeletal elements [11,12]

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Discussion

Conclusion