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Title: Family based studies in complex disorders : the use of bioinformatics software for data analysis in studies on osteoporosis
Authors: Vidal, Christopher
Xuereb-Anastasi, Angela
Keywords: Medical informatics
Genetics -- Data processing
Issue Date: 2011
Publisher: InTech
Citation: Selected Works in Bioinformatics. InTech, 2011. p. 17-40. 9789533072814
Abstract: Complex diseases are common within human populations and communities and pose a great burden not only to affected individuals, but also to society and the health system. Disorders such as chronic heart disease, diabetes, Alzheimer’s, epilepsy and many others, are caused by complex interactions of a number of genetic and environmental factors. This makes the identification of the responsible genes difficult if using the same methodologies used for monogenic diseases. For more than fifteen years there has been a collective effort by researchers from around the world to identify genes and genetic variations that increase the risk for osteoporosis and fractures in ageing populations to identify novel therapeutic and prognostic targets, but predominantly most studies have been inconclusive. In this study, two polymorphisms with a population frequency of less than 5.0%were identified by linkage analysis in two extended Maltese families with a highly penetrant form of osteoporosis. In vitro functional studies confirmed that these polymorphisms might increase the individual’s susceptibility to osteoporosis. This study adds to the existent knowledge of the complex pathophysiology involved in disorders such as osteoporosis. This knowledge is useful for the development of more targeted and individualised treatments.
ISBN: 9789533072814
Appears in Collections:Scholarly Works - FacHScABS

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