Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study.
Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study.
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生长分化因子 5 的单核苷酸多态性与先天性髋关节发育不良的关联：病例对照研究。
DOI：
10.1186/ar2540
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发表时间：
2008
影响因子：
4.9
通讯作者：
Ding, Yitao
中科院分区：
文献类型：
--
作者：
Dai, Jin;Shi, Dongquan;Zhu, Pengsheng;Qin, Jianghui;Ni, Haijian;Xu, Yong;Yao, Chen;Zhu, Lunqing;Zhu, Hongtao;Zhao, Baocheng;Wei, Jia;Liu, Baorui;Ikegawa, Shiro;Jiang, Qing;Ding, Yitao
先天性髋关节发育不良是股骨头在髋臼内的异常坐位，主要由髋臼浅和关节囊松弛引起。遗传因素在先天性髋关节发育不良的发病机制中起相当大的作用。基因生长分化因子5 （GDF5）与人类和小鼠的骨骼发育和关节形态发生有关。据报道，GDF5 5'-非翻译区（rs143383）的功能性单核苷酸多态性（SNP）与骨关节炎易感性相关。GDF5作为关节内及周围骨骼构件和软组织形态发生的关键调控因子，可能参与先天性髋关节发育不良的病因和发病机制。我们的目的是评估GDF5 SNP是否与汉族先天性髋关节发育不良有关。对338例先天性髋关节发育不良儿童和622例对照组进行了GDF5 SNP基因分型。SNP与先天性髋关节发育不良显著相关(p = 0.0037，优势比(OR) = 1.40；95%置信区间(CI) = 1.11 ~ 1.75)。按性别分层的女性样本（p = 0.0053; OR = 1.46; 95% CI = 1.21至1.91）和按严重程度分层的髋关节脱位（p = 0.0078; OR = 1.43; 95% CI = 1.11至1.85）存在显著差异。我们的结果表明GDF5在先天性髋关节发育不良的病因学中很重要。据作者所知，这是第一次发现与先天性髋关节发育不良有明确的联系。
Congenital dysplasia of the hip is an abnormal seating of the femoral head in the acetabulum, mainly caused by shallow acetabulum and lax joint capsule. Genetic factors play a considerable role in the pathogenesis of congenital dysplasia of the hip. The gene growth differentiate factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in humans and mice. A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility. As a key regulator in morphogenesis of skeletal components and soft tissues in and around the joints, GDF5 may be involved in the aetiology and pathogenesis of congenital dysplasia of the hip. Our objective is to evaluate if the GDF5 SNP is associated with congenital dysplasia of the hip in people of Han Chinese origin. The GDF5 SNP was genotyped in 338 children with congenital dysplasia of the hip and 622 control subjects. The SNP was significantly associated with congenital dysplasia of the hip (p = 0.0037; odds ration (OR) = 1.40; 95% confidence interval (CI) = 1.11 to 1.75). A significant difference was detected in female samples when stratified by gender (p = 0.0053; OR = 1.46; 95% CI = 1.21 to 1.91), and in hip dislocation when stratified by severity (p = 0.0078; OR = 1.43; 95% CI = 1.11 to 1.85). Our results indicate that GDF5 is important in the aetiology of congenital dysplasia of the hip. To the authors' knowledge this is the first time that a definite association with the congenital dysplasia of the hip susceptibility has been detected.
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DOI：
10.1186/1477-5751-6-7
发表时间：
2007-06-28
期刊：
Journal of negative results in biomedicine
影响因子：
--
作者：
Kapoor B;Dunlop C;Wynn-Jones C;Fryer AA;Strange RC;Maffulli N
通讯作者：
Maffulli N
影响因子：
9.8
作者：
Mabuchi, Akihiko;Nakamura, Shigeru;Ikegawa, Shiro
通讯作者：
Ikegawa, Shiro
DOI：
10.1302/0301-620x.41b2.314
发表时间：
1959-01-01
影响因子：
--
作者：
GEISER, M;BURI, P
通讯作者：
BURI, P
影响因子：
5.5
作者：
Jacobsen, S;Sonne-Holm, S
通讯作者：
Sonne-Holm, S
影响因子：
2.7
作者：
Storm, EE;Kingsley, DM
通讯作者：
Kingsley, DM