J Orthop Res. 2014 Feb;32(2):179-82. doi: 10.1002/jor.22507. Epub 2013 Nov 6.
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.
发育性髋关节发育不良（DDH）是最常见的骨骼疾病之一。它包括一系列异常，包括髋臼浅和股骨头覆盖减少。遗传因素在 DDH 的发病机制中起着相当大的作用。HOXB9 可能参与 DDH 的发病机制和发病机制，因为它在肢体发育中起着重要作用。我们的目的是评估 HOXB9（rs2303486 和 rs8844）的单核苷酸多态性（SNP）是否与中国人群中的 DDH 相关。通过 Taqman 检测法对 460 例 DDH 病例和 562 例对照进行 HOXB9 标签 SNP 基因分型，并检测其相关性。rs8844 与 DDH 无关。rs2303486 与显性遗传模型中的 DDH 相关（p=0.037；优势比（OR）=1.32；95%置信区间（CI）=1.02-1.71）。按性别分层后，女性受试者的显性遗传模型仍存在显著相关性（p=0.015；OR=1.46；95%CI=1.08-1.98），但男性受试者无相关性。按严重程度分层后，我们发现显性模型与髋关节脱位存在关联（p=0.042；OR=1.35；95%CI=1.01-1.80），但与半脱位或不稳定无关。HOXB9 与中国人群的 DDH 相关。
