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. 2008;10(5):R126.
doi: 10.1186/ar2540. Epub 2008 Oct 24.

Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

Jin Dai  1 , Dongquan Shi, Pengsheng Zhu, Jianghui Qin, Haijian Ni, Yong Xu, Chen Yao, Lunqing Zhu, Hongtao Zhu, Baocheng Zhao, Jia Wei, Baorui Liu, Shiro Ikegawa, Qing Jiang, Yitao Ding
Affiliations

Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

Jin Dai et al. Arthritis Res Ther. 2008.

Abstract

Introduction: 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.

Methods: The GDF5 SNP was genotyped in 338 children with congenital dysplasia of the hip and 622 control subjects.

Results: 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).

Conclusions: 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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References

    1. Sollazzo V, Bertolani G, Calzolari E, Atti G, Scapoli C. A two-locus model for non-syndromic congenital dysplasia of the hip (CDH) Ann Hum Genet. 2000;64:51–59. doi: 10.1046/j.1469-1809.2000.6410051.x. - DOI - PubMed
    1. Jacobsen S, Sonne-Holm S. Hip dysplasia: a significant risk factor for the development of hip osteoarthritis. A cross-sectional survey. Rheumatology (Oxford) 2005;44:211–218. doi: 10.1093/rheumtology/keh436. - DOI - PubMed
    1. Lane NE, Lin P, Christiansen L, Gore LR, Williams EN, Hochberg MC, Nevitt MC. Association of mild acetabular dysplasia with an increased risk of incident hip osteoarthritis in elderly white women: the study of osteoporotic fractures. Arthritis Rheum. 2000;43:400–404. doi: 10.1002/1529-0131(200002)43:2<400::AID-ANR21>3.0.CO;2-D. - DOI - PubMed
    1. Reijman M, Hazes JM, Pols HA, Koes BW, Bierma-Zeinstra SM. Acetabular dysplasia predicts incident osteoarthritis of the hip: the Rotterdam study. Arthritis Rheum. 2005;52:787–793. doi: 10.1002/art.20886. - DOI - PubMed
    1. Wilkinson J, Carter C. Congenital dislocation of the hip: the results of conservative treatment. J Bone Joint Surg Br. 1960;42:669–688.

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