Association of a Single Nucleotide Polymorphism in HOXB9 with Developmental Dysplasia of the Hip: A Case-Control Study

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 component plays a considerable role in the aetiology of DDH. HOXB9 may be involved in the aetiology and pathogenesis of DDH, as it plays an important role in the development of the limbs. Our objective was to evaluate whether single nucleotide polymorphisms (SNPs) of HOXB9 (rs2303486 and rs8844) were associated with DDH in Chinese population. The HOXB9 tag SNPs were genotyped in 460 DDH cases and 562 control subjects by Taqman assay, and their association was examined. rs8844 was not associated with DDH. rs2303486 was associated with DDH in the dominant genetic model (p=0.037; odds ratio (OR)=1.32; 95% confidence interval (CI)=1.02-1.71). After stratification by sex, significant association of the dominant genetic model still existed in the female subjects (p=0.015; OR=1.46; 95% CI=1.08-1.98), but not in the male subjects. After stratification by severity, we discovered an association with hip dislocation in the dominant model (p=0.042; OR=1.35; 95% CI=1.01-1.80), but not with subluxation or instability. HOXB9 is associated with DDH in Chinese. (c) 2013 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 32:179-182, 2014.