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

BMC Musculoskeletal Disorders

Research Article

Shilian Kan¹  Jian Jia¹  Lixi Zhao²  Longfei Cheng²  Zhi Cheng²  Binbin Wang²  Peisu Suo²  Jing Wang²  Xu Ma³  Jianmin Wang⁴  Wei Tian⁵ 

[1] Department of Orthopaedic Trauma, Tianjin hospital, Tianjin, China;Graduate school, Peking Union Medical College, Beijing, China;Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, 100081, Haidian, Beijing, China;Graduate school, Peking Union Medical College, Beijing, China;Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, 100081, Haidian, Beijing, China;World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, China;Huabei oil field hospital, Hebei, China;Tianjing medical University, Tianjing, China;Department of Orthopaedic Trauma, Tianjin hospital, Tianjin, China;

关键词: Developmental dysplasia of the hip (DDH);    HOXD9;    Tag SNP;    Association analysis;   

DOI  :  10.1186/1471-2474-13-59

 received in 2011-12-10, accepted in 2012-04-20,  发布年份 2012

来源: Springer

【 摘 要 】

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 (χ 2 = 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.

【 授权许可】

Unknown   
© Tian et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.