Osteoporosis (OP) and osteoarthritis (OA), the two most common age-related chronic disorders of articular joints and skeleton, represent a major public health problem in most developed countries. They are influenced by environmental factors and exhibit a strong genetic component. Large population studies clearly show their inverse relationship; therefore, an accurate analysis of the genetic bases of one of these two diseases may provide data of interest for the other disorder. The discovery of risk and protective genes for OP and OA promises to revolutionize strategies for diagnosing and treating these disorders. The primary goal of this symposium was to bring together scientists and clinicians working on OP and OA in order to identify the most promising and collaborative approaches for the coming decade. This meeting put into focus the importance of an adequate genetic approach to several areas of research: the search for the genetic determinants underlying new susceptibilities, the optimization of previously acquired data; the establishment of correlations between genetic polymorphism and functional variants, and gene–gene and gene–environment interactions (particularly those between genes and nutrients). An adequate genetic approach is also essential with regard to determining more selective criteria for phenotypic definition of familial OP, in order to obtain more homogeneous and statistically powerful family-based studies. The symposium concluded with an interesting overview of the future perspectives offered by DNA microarray technologies for identifying novel candidate genes, for developing proteomics and bioinformatics analyses and for designing low-cost clinical trials.

The existence of psoriatic arthritis as a distinct clinical entity remains a topic of debate; some authors propose that it is simply the co-occurrence of psoriasis and inflammatory arthritis. However, a distinct entity is likely to have distinct susceptibility factors in addition to those that contribute to psoriasis and inflammatory arthritis alone. These aetiological factors may be genetic and/or environmental, and in this review, the evidence for distinct psoriatic arthritis genetic susceptibility factors is considered.

The basis of susceptibility to rheumatoid arthritis (RA) is complex, comprising genetic and environmental susceptibility factors. We have reviewed the available approaches to the investigation of the genetic basis of complex diseases and how these are being applied to RA. Affected-sibling-pair methods for nonparametric linkage analysis, linkage-disequilibrium-based approaches, transmission disequilibrium testing, and disease-association studies are discussed. The pros, cons, and limitations of the approaches are considered and are illustrated by examples from the literature about rheumatoid arthritis.

▪ 요추 X-ray 영상에서 L1~L4에 한 개의 질환(Normal, Osteopenia, Osteoporosis)이 라벨링 되어 있는 데이터셋으로 남녀 성비, 질환 분포의 다양성을 확보한 데이터 ▪ 전문의들이 X-Ray 영상과 진단데이터를 활용하여 판독한 골다공증 관련 서비스 활용에 신뢰성 있는 데이터

Studies have established the magnitude of the genetic basis of juvenile idiopathic arthritis (JIA). JIA is a complex genetic condition and the genes that influence susceptibility are actively being sought. A candidate gene approach is being used by several groups. MHC-, cytokine- and T-cell-related genes have all been positively associated with JIA. Here we review some of the latest genetic data, and discuss ways in which JIA genetic research might proceed.

Osteoarthritis is complex in genetics, pathogenesis, monitoring and treatment. Current treatment of osteoarthritis does not influence progression. Much could be gained by more effective 'low-tech-low-cost' treatment. However, many patients have rapidly progressive disease, multiple joint involvement, and severe disease. We need to clarify the genetics of osteoarthritis, identify those at risk for progression and severe disease, and identify molecular processes critical for joint survival and failure. Will saving the cartilage improve patient pain and function? Effective outcome measures are needed to accelerate testing of new treatments. Further improvement is needed in joint implant technology to decrease costs, wear and loosening.

Systemic lupus erythematosus is the prototype multisystem autoimmune disease. A strong genetic component of susceptibility to the disease is well established. Studies of murine models of systemic lupus erythematosus have shown complex genetic interactions that influence both susceptibility and phenotypic expression. These models strongly suggest that several defects in similar pathways, e.g. clearance of immune complexes and/or apoptotic cell debris, can all result in disease expression. Studies in humans have found linkage to several overlapping regions on chromosome 1q, although the precise susceptibility gene or genes in these regions have yet to be identified. Recent studies of candidate genes, including Fcγ receptors, IL-6, and tumour necrosis factor-α, suggest that in human disease, genetic factors do play a role in disease susceptibility and clinical phenotype. The precise gene or genes involved and the strength of their influence do, however, appear to differ considerably in different populations.

Several recent papers have shown that both familial primary pulmonary hypertension (FPPH) and sporadic primary pulmonary hypertension (PPH) may have a common etiology that is associated with the inheritance and/or spontaneous development of germline mutations in the bone morphogenetic protein receptor (BMPR) type II gene. Because BMPR-II is a ubiquitously expressed receptor for a family of secreted growth factors known as the bone morphogenetic proteins (BMPs), these findings suggest that BMPs play an important role in the maintenance of normal pulmonary vascular physiology. In the present commentary we discuss the implications of these findings in the context of BMP receptor biology, and relate these data to the genetics and pulmonary pathophysiology of patients with PPH.