Genetic studies of disorders of calcium crystal deposition

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Abstract
Disordered calcification of cartilage and ligaments occurs commonly amongst the elderly, yet the reasons for this are very poorly understood. Chondrocalcinosis affects 25% of the population aged over 85 yr and 3% of people aged between 65 and 69 yr show radiological evidence of the disease [1]. Diffuse idiopathic skeletal hyperostosis (DISH, Forestier's disease), which causes ossification of the anterior longitudinal spinous ligament and peripheral entheses, has been reported to be as prevalent as 25% in males and 15% in females over the age of 50 yr [2]. In Asian populations, in particular amongst Japanese, a similar condition, ossification of the posterior longitudinal ligament (OPLL) has a prevalence of 1.9–4.3% [3]. OPLL and DISH commonly occur together: Resnick et al. [4] have reported that 50% of cases of DISH are associated with some degree of OPLL. Although many cases of these conditions are asymptomatic, this is not universally so. Chondrocalcinosis is an important cause of joint damage and may cause acute or chronic inflammatory arthritis. OPLL is a common cause of spinal canal stenosis in Japanese. These common disorders can thus cause significant morbidity, and there is an increasing body of evidence to suggest that they share common aetiopathogenic factors. In this review we will examine the evidence that variation in genes encoding proteins involved in pyrophosphate metabolism plays an important role in articular chondrocalcinosis, and may also be involved in other common conditions of ectopic calcification.

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