Izzo, Valentina (2013) New strategies for the study of celiac disease genetics. [Tesi di dottorato]
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| Tipologia del documento: | Tesi di dottorato |
|---|---|
| Lingua: | English |
| Titolo: | New strategies for the study of celiac disease genetics |
| Autori: | Autore Email Izzo, Valentina valent.izzo@gmail.com |
| Data: | 31 Marzo 2013 |
| Numero di pagine: | 108 |
| Istituzione: | Università degli Studi di Napoli Federico II |
| Dipartimento: | Pediatria |
| Scuola di dottorato: | Medicina clinica e sperimentale |
| Dottorato: | Riproduzione, sviluppo e accrescimento dell'uomo |
| Ciclo di dottorato: | 25 |
| Coordinatore del Corso di dottorato: | nome email Pignata, Claudio claudio.pignata@unina.it |
| Tutor: | nome email Greco, Luigi ydongre@unina.it |
| Data: | 31 Marzo 2013 |
| Numero di pagine: | 108 |
| Parole chiave: | Celiachia, genetica |
| Settori scientifico-disciplinari del MIUR: | Area 06 - Scienze mediche > MED/03 - Genetica medica Area 06 - Scienze mediche > MED/12 - Gastroenterologia |
| Aree tematiche (7° programma Quadro): | SALUTE e TUTELA DEL CONSUMATORE > Ottimizzazione per la prestazione delle cure sanitarie per i cittadini in Europa |
| Depositato il: | 11 Apr 2013 11:38 |
| Ultima modifica: | 31 Dic 2016 02:00 |
| URI: | http://www.fedoa.unina.it/id/eprint/9099 |
Abstract
Celiac Disease (CD) is a chronic enterophaty affecting the small intestine and triggered by gluten proteins contained in wheat, barley and rye. It is characterized by an autoimmune response in genetically susceptible individuals, and only the 40% of the genetics is explained by HLA predisposition. Recently, several susceptibility loci not HLA related have been identified by genome-wide association studies (GWAs). Our aim is to extract as many information as we can from the large amount of data emerged from these studies. The critic analysis of the large panorama of CD candidate genes leads to consider several mechanisms of action that may have gone unnoticed if we persist in considering all the genes together. Whereas, analyzing a small set of genes from different points of view it is possible to really understand why this more than the other gene resulted to be associated with the disease. GWAs made the history of complex diseases, but represent only the starting point from which postulate hypothesis, mechanisms of action, interactions, in order to untangle the skein represented by the complex pathogenesis of celiac disease.
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