Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study
Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study
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Tbx4 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：
10.1016/j.joca.2010.09.008
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发表时间：
2010-12-01
影响因子：
7
通讯作者：
Jiang, Q.
中科院分区：
文献类型：
--
作者：
Wang, K.;Shi, D.;Jiang, Q.
目的：发育性髋关节发育不良（DDH），以前称为先天性髋关节脱位，包括一系列异常，包括胚胎、胎儿和婴儿生长期间髋臼形状异常（发育不良）和股骨头位置异常。遗传因素在DDH的发病机制中起着重要的作用。作为后肢发育和鉴定的关键调控因子，Tbx4可能参与DDH的病因和发病机制。我们的目的是评估Tbx4 （rs3744438和rs3744448）单核苷酸多态性（snp）是否与中国人的DDH相关。方法：对505例DDH患儿和551例对照进行Tbx4 snp基因分型，并进行相关性分析。结果：Rs3744438与DDH无相关性。在男性显性遗传模型中，Rs3744448与DDH显著相关(P = 0.039，优势比(OR) = 0.56；95%可信区间(CI) = 0.32-0.97)，患者中等位基因G与C相比显著低于对照组（P = 0.02; OR = 0.59; 95% CI = 0.37-0.92）。在对性别进行校正后，我们发现，在显性遗传模型中，按严重程度分层时，与髋关节脱位有显著关联（P = 0.03; OR = 0.73; 95% CI = 0.55-0.97），但与半脱位和不稳定无关。结论：Tbx4可能在DDH的病因学中起重要作用。(C) 2010年由Elsevier Ltd代表国际骨关节炎研究学会出版。
Objective: Developmental dysplasia of the hip (DDH), formerly known as congenital dislocation of the hip, comprises a spectrum of abnormalities, including abnormal acetabular shape (dysplasia) and malposition of the femoral head during embryonic, fetal and infantile growth periods. Genetic factors play a considerable role in the pathogenesis of DDH. As a key regulator for the hindlimb outgrowth and identification, Tbx4 may be involved in the aetiology and pathogenesis of DDH. Our objective is to evaluate whether the Tbx4 (rs3744438 and rs3744448) single nucleotide polymorphisms (SNPs) are associated with DDH in Chinese.Method: The Tbx4 SNPs were genotyped in 505 children with DDH and 551 control subjects and their association was evaluated statistically.Results: Rs3744438 was not associated with DDH. Rs3744448 was significantly associated with DDH in the dominant genetic model of males (P = 0.039; odds ratio (OR) = 0.56; 95% confidence interval (CI) = 0.32-0.97) and allele G was significantly lower in patients than controls compared with allele C (P = 0.02; OR = 0.59; 95% CI = 0.37-0.92). After adjusted for gender, we discovered a significant association with hip dislocation in the dominant genetic model when stratified by severity (P = 0.03; OR = 0.73; 95% CI = 0.55-0.97), but not with subluxation and instability.Conclusions: Tbx4 tends to play an important role in the aetiology of DDH. (C) 2010 Published by Elsevier Ltd on behalf of Osteoarthritis Research Society International.