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| Content Provider | Springer Nature Link |
|---|---|
| Author | Mirowska Guzel, Dagmara Litwin, Tomasz Gromadzka, Grazyna Czlonkowski, Andrzej Czlonkowska, Anna |
| Copyright Year | 2013 |
| Abstract | Susceptibility to Wilson’s disease (WD) and its clinical manifestations are thought to be affected by genetic factors, including polymorphisms. The role of brain-derived neurotrophic factor (BDNF) in the pathogenesis of neurodegenerative diseases is now widely discussed. The aim of the present study was to evaluate the frequency of the BDNF Val66Met (G-196A) and C-270T polymorphisms in WD patients and in healthy controls, and to determine the role of these polymorphisms in the clinical characteristics of WD. We found that the BDNF Val/Val (−196 G/G) and −270 C/T genotypes occurred more frequently in WD patients than in healthy controls (66 % versus 45.5 %, p = 0.0001, and 14 % versus 6 %, p = 0.018, respectively). Similarly, symptomatic patients carried the BDNF Val/Val genotype more often than presymptomatic patients (75 % versus 53 %, p = 0.0097). No association was detected between any of the determined polymorphisms and the dominant form of the disease or the age of onset for WD. |
| Starting Page | 447 |
| Ending Page | 453 |
| Page Count | 7 |
| File Format | |
| ISSN | 08857490 |
| Journal | Metabolic Brain Disease |
| Volume Number | 28 |
| Issue Number | 3 |
| e-ISSN | 15737365 |
| Language | English |
| Publisher | Springer US |
| Publisher Date | 2013-03-22 |
| Publisher Place | Boston |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Brain-derived neurotrophic factor (BDNF) Polymorphism Wilson’s disease Disease susceptibility Neurosciences Neurology Metabolic Diseases Biochemistry Oncology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry Neurology (clinical) Cellular and Molecular Neuroscience |
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