Association Of A Single Nucleotide Polymorphism In HOXB9 With Developmental Dysplasia Of The Hip: A Case-control Study

Purpose: Developmental dysplasia of the hip (DDH) is one of the most common skeletal disorders. It comprises a spectrum of abnormalities, including shallow acetabulum and decreased coverage of the femoral head. Genetic components played a considerable role in the aetiology of DDH. As an important role in the development of the limbs, HOXB9 may be involved in the aetiology and pathogenesis of DDH. Our objective was to evaluate whether the single nucleotide polymorphisms (SNPs) of HOXB9 (rs2303486 and rs8844) were associated with DDH in Chinese population.Method:The HOXB9 SNPs were genotyped in 460 DDH cases and 562 control subjects by Taqman assay.Results:rs8844 was not associated with DDH. Rs2303486 was associated with DDH in the dominant genetic model (P=0.0369; odds ratio (OR)=1.319; 95% confidence interval (CI)=1.017-1.711). After stratification by gender, significant association of the dominant genetic model still existed in female subjects (P=0.0150; OR= 1.460; 95% CI=1.076-1.983), but not in male subjects. After stratification by severity, we discovered an association with hip dislocation in the dominant model (P=0.0417; OR=1.347; 95% CI=1.011-1.796), but not with subluxation or instability.Conclusions:HOXB9 tends to play an important role in the aetiology of DDH.