Association of a Single Nucleotide Polymorphism in HOXB9 with Developmental Dysplasia of the Hip: A Case-Control Study
Association of a Single Nucleotide Polymorphism in HOXB9 with Developmental Dysplasia of the Hip: A Case-Control Study
复制标题
HOXB9 单核苷酸多态性与髋关节发育不良的关联：病例对照研究
DOI：
10.1002/jor.22507
复制
发表时间：
2014-02-01
影响因子：
2.8
通讯作者：
Jiang, Qing
中科院分区：
文献类型：
--
作者：
Hao, Zheng;Dai, Jin;Jiang, Qing
发育性髋关节发育不良(DDH)是最常见的骨骼疾病之一。它包括一系列的异常，包括髋臼浅和股骨头覆盖率降低。遗传成分在DDH的病因中起着相当大的作用。HOXB9在肢体发育中起重要作用，可能参与了DDH的病因和发病机制。我们的目的是评估HOXB9(rs2303486和rs8844)单核苷酸多态(SNPs)是否与中国人群DDH相关。采用Taqman法对460例DDH患者和562例正常对照的HOXB9 Tag SNPs进行基因分型，并分析其关联性。Rs8844与DDH无关。在显性遗传模型中，rs2303486与DDH相关(p=0.037；优势比(OR)=1.32；95%可信区间(CI)=1.02~1.71)。按性别分层后，显性遗传模式在女性受试者中仍存在显著关联(P=0.015；OR=1.46；95%CI=1.0 8~1.98)，而在男性受试者中已不存在。按严重程度分层后，我们发现在优势模式中与髋关节脱位有关(P=0.042；OR=1.35；95%CI=1.01-1.8)，但与半脱位或不稳定无关。在汉语中，HOXB9与DDH有关。(C)2013年骨科研究会。由Wiley期刊公司出版，J Orthop Res 32：179-182,2014。
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.