Introduction. Although DDH is one of the most common skeletal dysplasias (incidence 1.5 cases per 1000 births), it remains slow and costly to recruit large-scale patient cohorts for powerful genetic association studies. In this work we have successfully used the NJR as a platform to generate a DDH biobank of 907 individuals, upon which we have conducted the first ever genome-wide association study (GWAS) for DDH. Methods. 5411 patients recorded as having a hip replacement for ‘hip dysplasia’ between March 2003 and December 2013 were approached to participate in the study. Following filtering by questionnaire for non-DDH cases and non-European Caucasians, 907 patients returned a completed saliva sample. A randomly selected sample of individuals participating on the UK Household Longitudinal Study that had been previously genotyped using the same platform were used as controls at a case:control ratio of 1:4. A further data set consisting of 332 cases, 1375 controls and 26 variants was used to replicate the top signals. Results. Of 256833 variants that passed QC, 11 variants reached genome-wide significance. All these variants came from the same signal, with rs143384 as the index SNP (allele A, allele frequency 0.60, OR [95% CI] 1.58[1.40–1.77], P=1.1×10. −14. ). Twenty-six independent variants were prioritized to follow up through de novo replication. Variant rs143384 was found to be significantly associated with DDH after meta-analysing discovery and replication datasets (allele A, allele frequency 0.60, OR [95% CI] 1.50[1.36–1.66], P=2.81×10. −16. ). Discussion. Using eHR case-ascertainment and distance recruitment strategies we conducted the first GWAS for DDH and confirmed association of the GDF5 variant rs143384 with DDH (P=2.81×10. −16. ). We establish the first genome-wide significant locus for DDH, discovered through linking EHRs with genomics as a proof of principle in enabling powerful genetic association studies of relatively rare but complex diseases

Aims

The aim of this study was to evaluate the suitability of the tapered cone stem in total hip arthroplasty (THA) in patients with excessive femoral anteversion and after femoral osteotomy.

Aims

Young adults undergoing total hip arthroplasty (THA) largely have different indications for surgery, preoperative function, and postoperative goals compared to a standard patient group. The aim of our study was to describe young adult THA preoperative function and quality of life, and to assess postoperative satisfaction and compare this with functional outcome measures.

The hip joint is commonly involved in multiple epiphyseal dysplasia and patients may require total hip replacement before the age of 30 years.

We retrospectively reviewed nine patients (16 hips) from four families. The diagnosis of multiple epiphyseal dysplasia was based on a family history, genetic counselling, clinical features and radiological findings. The mean age at surgery was 32 years (17 to 63), with a mean follow-up of 15.9 years (5.5 to 24).

Of the 16 hips, ten required revision at a mean of 12.5 years (5 to 15) consisting of complete revision of the acetabular component in three hips and isolated exchange of the liner in seven. No femoral component has loosened or required revision during the period of follow-up.

With revision for any reason, the 15-year survival was only 11.4% (95% confidence interval 1.4 to 21.4). However, when considering revision of the acetabular shell in isolation the survival at ten years was 93.7% (95% confidence interval 87.7 to 99.7), reducing to 76.7% (95% confidence interval 87.7 to 98.7) at 15 and 20 years, respectively.