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: Genetic studies in osteoporosis - the end of the beginning. | Available online http content 10 5 214 Review Genetic studies in osteoporosis - the end of the beginning Emma L Duncan1 and Matthew A Brown1 2 1The University of Queensland Diamantina Institute for Cancer Immunology and Metabolic Medicine Princess Alexandra Hospital Woolloongabba Qld 4102 Australia 2University of Oxford Institute of Musculoskeletal Sciences Botnar Research Centre University of Oxford Headington OX3 7LD UK Corresponding author Emma Duncan Published 12 September 2008 This article is online at http content 10 5 214 2008 BioMed Central Ltd Arthritis Research Therapy 2008 10 214 doi ar2479 Abstract Osteoporosis and disorders of bone fragility are highly heritable but despite much effort the identities of few of the genes involved has been established. Recent developments in genetics such as genome-wide association studies are revolutionizing research in this field and it is likely that further contributions will be made through application of next-generation sequencing technologies analysis of copy number variation polymorphisms and high-throughput mouse mutagenesis programs. This article outlines what we know about osteoporosis genetics to date and the probable future directions of research in this field. Introduction Ninety years ago a major debate took place between the Mendelians and the Biometricians. Mendel s laws of inheritance with their clear phenotype-genotype correlation were inadequate to explain heritable and normally distributed quantitative traits such as height bone mineral density BMD and weight. The elegant solution to this problem was that both parties were right single genes cannot underlie inheritance of complex quantitative traits but such traits arise due to the action of multiple genes each inherited in Mendelian fashion and each exerting their individual effect upon the ultimate phenotype. Over the past century many monogenic diseases with classical .
