The genetic epidemiology of joint shape and the development of osteoarthritis

Congruent, low-friction relative movement between the articulating elements of a synovial joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint formation or maintenance exist, mechanical overloading and osteoarthritis (OA) follow. The heritable component of OA accounts for ~ 50% of susceptible risk. Although almost 100 genetic risk loci for OA have now been identified, and the epidemiological relationship between joint development, joint shape and osteoarthritis is well established, we still have only a limited understanding of the contribution that genetic variation makes to joint shape and how this modulates OA risk. In this article, a brief overview of synovial joint development and its genetic regulation is followed by a review of current knowledge on the genetic epidemiology of established joint shape disorders and common shape variation. A summary of current genetic epidemiology of OA is also given, together with current evidence on the genetic overlap between shape variation and OA. Finally, the established genetic risk loci for both joint shape and osteoarthritis are discussed

Implementation of Functional Genomics for Bench-to-Bedside Transition in Osteoarthritis

Molecular Epidemiolog

Obesity and metabolic disturbances in adamantinomatous craniopharyngioma patients

An adamantinous craniopharyngioma (CP) is rare benign pituitary tumour often growing invasively and thereby affecting the hypothalamus. The recurrence rate in CP is high and therapy of choice is surgery, followed by cranial radiotherapy (CRT) in about half of the patients. Patients with CP have a 3-19 fold higher cardiovascular mortality in comparison to the general population. The majority of patients have an extended hypopituitarism that needs balanced hormone supplementation. About half of the patient population suffer from hypothalamic damage due to the tumour or operation. These patients suffer from hypothalamic obesity together with increased vascular morbidity and compromised bone health, thirst disorders as well as somnolence and sleep apnea. Cardiovascular risk factors need up front therapy. There is a need for centralising this rare aggressive and difficult tumour to only a few centres and that it will be managed by a multidisciplinary team with experienced neurosurgeons, endocrinologists, neurooncologists, neuroradiologists, and neuroopthamologists for a better prognosis