Influence of BDNF polymorphisms on Wilson's disease susceptibility and clinical course.

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.

journal_name

Metab Brain Dis

journal_title

Metabolic brain disease

authors

Mirowska-Guzel D,Litwin T,Gromadzka G,Czlonkowski A,Czlonkowska A

doi

10.1007/s11011-013-9399-x

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

447-53

issue

3

eissn

0885-7490

issn

1573-7365

journal_volume

28

pub_type

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