Background

Several previous studies have examined the genetic basis of osteoporosis, by analysing associations between bone mineral density (BMD) as measured by DXA and genetic markers, including GWA studies in which several markers have been identified that appear to replicate across a range of cohorts 1. These studies have generally focussed on lumbar spine and hip BMD, which sites are the most widely used in terms of clinical tests for osteoporosis. Moreover, hip BMD is related to future risk of hip fracture, arguably the most important consequence of osteoporosis.

Hip structural analysis has been developed as a means of extracting information from hip DXA scans related to overall geometry and strength, and may provide further information beyond BMD with respect to future risk of fracture. Moreover, genetic factors which influence hip geometry may be different to those that affect BMD. Having previously used this approach to evaluate the influence of puberty on hip structure in ALSPAC children 2, we are now keen to apply it to identify possible genetic determinants thereof. Given that hip structural data will be available in both ALSPAC mothers and children, we will have an opportunity to compare and contrast genetic influences at the time hip development is approaching completion, with those in older adults, when hip structure is starting to be affected by age-related deterioration.

Aims

We aim to perform GWA studies (with replication) intended to identify genetic influences on hip structure in (i) adolescents approaching skeletal maturity (ALSPAC YP age 17) and (ii) older adults (ALSPAC mothers).