Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population.

ABSTRACT:

Objectives

Developmental dysplasia of the hip (DDH) is a common skeletal disorder. This study was conducted to demonstrate the association between DDH and a polymorphism rs9277935 of COL11A2 gene.

Results

A significant difference in genotype distribution in a recessive model (TT+GT vs. GG) between two groups (P=0.017) was demonstrated. Analysis in female patients showed significantly greater frequency of minor allele G(0.49 vs. 0.43, p=0.024) and significantly higher distribution of GG genotype (p=0.006). DDH patients were found to have significantly lower COL11A2 expression than controls. Moreover, DDH patients with rs9277935 genotype TT have a significantly increased expression of COL11A2 than those with genotype GG. COL11A2 demonstrated chondrogenic properties i

SUBMITTER: Xu R 

PROVIDER: S-EPMC7244083 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature