tailieunhanh - Báo cáo y học: "Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap. | Loughlin Arthritis Research Therapy 2011 13 108 http content 13 2 108 EDITORIAL Knee osteoarthritis lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap John Loughlin See related research by Shi etal. http content 13 1 R27 Abstract Genetics highlights relationships between biological systems and as the number of defined osteoarthritis susceptibility alleles increases there is the natural tendency to assess whether the alleles influence other musculoskeletal phenotypes. That has proven to be the case for the GDF5 polymorphism rs143383 a risk factor for knee osteoarthritis and several other common conditions including lumbar-disc degeneration and developmental dysplasia of the hip. Another interesting example has recently emerged in the repeat polymorphism of the asporin gene ASPN which is also associated with these three phenotypes. Such discoveries increase our understanding of shared disease etiology but also emphasize the complexity of common genetic risk. Pleiotropy refers to the capacity of a DNA mutation to have an effect on many biological systems and is a consequence of the fact that during life gene products are typically expressed as so-called spatial and temporal effects in a variety of cell types at a number of different times. Pleiotropy of common alleles is an expected feature of human diseases that have a major genetic component and manifests as an allele associated with several different phenotypes. The musculoskeletal system is no exception and in the previous issue of Arthritis Research Therapy Shi and colleagues 1 brought another example to our attention. In their study of Han Chinese the investigators reported an association of the Correspondence Musculoskeletal Research Group Institute of Cellular Medicine Newcastle University 4th Floor Catherine Cookson Building The Medical School Framlington Place Newcastle upon Tyne NE2 4HH UK 2 .

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