Book
Family based studies in complex disorders : the use of bioinformatics software for data analysis in studies on osteoporosis
| Τίτλος: | Family based studies in complex disorders : the use of bioinformatics software for data analysis in studies on osteoporosis |
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| Συγγραφείς: | Vidal, Christopher, Xuereb-Anastasi, Angela |
| Στοιχεία εκδότη: | InTech |
| Έτος έκδοσης: | 2011 |
| Συλλογή: | University of Malta: OAR@UM / L-Università ta' Malta |
| Θεματικοί όροι: | Medical informatics, Bioinformatics, Genetics -- Data processing |
| Περιγραφή: | 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. ; N/A |
| Τύπος εγγράφου: | book part |
| Γλώσσα: | English |
| ISBN: | 978-953-307-281-4 953-307-281-4 |
| Relation: | https://www.um.edu.mt/library/oar//handle/123456789/3938 |
| DOI: | 10.5772/18914 |
| Διαθεσιμότητα: | https://www.um.edu.mt/library/oar//handle/123456789/3938 https://doi.org/10.5772/18914 |
| Rights: | info:eu-repo/semantics/openAccess ; The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. |
| Αριθμός Καταχώρησης: | edsbas.16BDE14A |
| Βάση Δεδομένων: | BASE |
| ISBN: | 9789533072814 9533072814 |
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| DOI: | 10.5772/18914 |