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Exclusion of COL2A1 and VDR as Developmental Dysplasia of the Hip Genes

  • Symposium: Developmental Dysplasia of the Hip
  • Published:
Clinical Orthopaedics and Related Research

Abstract

Developmental dysplasia of the hip (DDH) is a spectrum of disorders affecting the proximal femur and/or acetabulum leading to an abnormal formation of the hip. Genetic factors are involved in the etiology of DDH. Early recognition of DDH affords the best results from treatment and a better knowledge of the genetics of DDH could enhance early diagnosis. Variants in the Type II collagen (COL2A1) and vitamin D receptor (VDR) genes have been associated with patients with osteoarthritis of the hip secondary to DDH, suggesting these genes could contribute to DDH. To see whether there was linkage between the COL2A1/VDR locus and nonsyndromic DDH, we conducted a linkage study on 11 families with multiple cases of DDH. We demonstrated no evidence of linkage between the COL2A1/VDR locus and nonsyndromic DDH (LOD score < −2), suggesting, although variants in these genes could play a role in osteoarthritis in patients with DDH, they do not contribute to nonsyndromic DDH. The search for causal gene variants should proceed with other candidates.

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Acknowledgments

We thank the DDH families for their invaluable contribution to this study.

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Authors and Affiliations

  1. Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Università di Ferrara, Ferrara, Italy

    Michele Rubini PhD, Alessandra Cavallaro PhD & Elisa Calzolari MD

  2. Dipartimento di Scienze Biomediche e Terapie Avanzate, Sezione di Clinica Ortopedica, Università di Ferrara, Corso Giovecca 203, 44100, Ferrara, Italy

    Giulia Bighetti MD & Vincenzo Sollazzo MD

Authors
  1. Michele Rubini PhD
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  2. Alessandra Cavallaro PhD
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  3. Elisa Calzolari MD
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  4. Giulia Bighetti MD
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  5. Vincenzo Sollazzo MD
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Corresponding author

Correspondence to Vincenzo Sollazzo MD.

Additional information

One or more of the authors (MR, EC, VS) have received funding from a local scientific research grant of the University of Ferrara.

Each author certifies that his or her institution has approved the human protocol for this investigation, that all investigations were conducted in conformity with ethical principles of research, and that informed consent was obtained.

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Rubini, M., Cavallaro, A., Calzolari, E. et al. Exclusion of COL2A1 and VDR as Developmental Dysplasia of the Hip Genes. Clin Orthop Relat Res 466, 878–883 (2008). https://doi.org/10.1007/s11999-008-0120-z

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  • DOI: https://doi.org/10.1007/s11999-008-0120-z

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