Abstract for presentation at 11th International Congress of Human Genetics

A case-control association study for analysing the implication of different candidate genes in congenital hip dislocation

  • Karen Rouault, INSERM U 613 "Génétique moléculaire et génétique épidémiologique" , Brest, France
  • Virginie Scotet, INSERM U 613 "Génétique moléculaire et génétique épidémiologique", Brest, France
  • Frédéric Dubrana, Department of orthopaedic surgery, CHU La Cavale Blanche, Brest, France
  • Bertrand Fenoll, Department of paediatric surgery, CHU Morvan, Brest, France
  • François Gaucher, Department of orthopaedic surgery, Hotel Dieu, Pont L’Abbé, France
  • Danielle Tanguy, Department of physical medicine, Centre de Perharidy, Roscoff, France
  • Chaoukki Yaacoub, Department of orthopaedic surgery, CH Cornouaille, Quimper, France
  • Claude Férec, INSERM U 613 "Génétique moléculaire et génétique épidémiologique", Brest, France

    • Congenital dislocation of the hip (CDH), which is one of the most common skeletal congenital anomalies, is a public health matter because of its high frequency, the severe functional handicap induced if it is not treated early and its natural evolution towards hip osteoarthritis. This disease presents a mechanical component linked to the pregnancy and delivery conditions, but the ethnical predispositions and the familial aggregation observed suggest that it also presents a genetic component. We set up an association study in the area of Finistère (western Brittany, France) where CDH is particularly frequent in order to determine the implication of different candidate genes. In a first step, we described the epidemiological characteristics of our cohort of patients. To date, 241 CDH patients have been recruited and the cohort is composed of 91.3% of women (n=220 – sex-ratio: 1:10). The pathology affected the first child of the family in 42.3% of cases. CDH was bilateral in 60.0% of cases and when it was unilateral, it affects as often the left than the right hip (48.9 vs. 51.1%). Hyperlaxity was present in 11.3% of cases and femoral antetorsion in 21.8%. Breech presentation was observed in 12.4% of patients, among whom 55.0% were delivered by caesarean. In this cohort, 15.0% of the patients had a high birthweight (≥4kg) and 5.4% were postmature babies (≥42 weeks of gestation). On clinical aspects, a postural anomaly was observed in 11.3% of patients. The candidate genes which are studied in first intention include genes involved in the mechanisms of development of members (HOXB9) and in the composition of cartilaginous tissue (COL1A1 and COL2A1). This study will report the preliminary results of the first association study made on CDH and will highlight the role of candidate genes in this complex disease.

    This work was supported by a grant from Projet Hospitalier de Recherche Clinique.

    Conference Organiser - ICMS Pty Ltd