PMID- 23519890
OWN - NLM
STAT- MEDLINE
DCOM- 20140224
LR  - 20211021
IS  - 1573-7365 (Electronic)
IS  - 0885-7490 (Print)
IS  - 0885-7490 (Linking)
VI  - 28
IP  - 3
DP  - 2013 Sep
TI  - Influence of BDNF polymorphisms on Wilson's disease susceptibility and clinical 
      course.
PG  - 447-53
LID - 10.1007/s11011-013-9399-x [doi]
AB  - 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.
FAU - Mirowska-Guzel, Dagmara
AU  - Mirowska-Guzel D
AD  - Department of Experimental and Clinical Pharmacology, Medical University of 
      Warsaw, 00-927, Warsaw, Poland.
FAU - Litwin, Tomasz
AU  - Litwin T
FAU - Gromadzka, Grazyna
AU  - Gromadzka G
FAU - Czlonkowski, Andrzej
AU  - Czlonkowski A
FAU - Czlonkowska, Anna
AU  - Czlonkowska A
LA  - eng
PT  - Journal Article
DEP - 20130322
PL  - United States
TA  - Metab Brain Dis
JT  - Metabolic brain disease
JID - 8610370
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Age Factors
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - DNA/genetics
MH  - Data Interpretation, Statistical
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Hepatolenticular Degeneration/*genetics/physiopathology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Muscle Rigidity/etiology
MH  - Nervous System Diseases/etiology/physiopathology
MH  - Polymorphism, Genetic/*genetics
MH  - Polymorphism, Restriction Fragment Length
MH  - Tremor/etiology
PMC - PMC3734604
EDAT- 2013/03/23 06:00
MHDA- 2014/02/25 06:00
PMCR- 2013/03/22
CRDT- 2013/03/23 06:00
PHST- 2012/12/29 00:00 [received]
PHST- 2013/03/10 00:00 [accepted]
PHST- 2013/03/23 06:00 [entrez]
PHST- 2013/03/23 06:00 [pubmed]
PHST- 2014/02/25 06:00 [medline]
PHST- 2013/03/22 00:00 [pmc-release]
AID - 9399 [pii]
AID - 10.1007/s11011-013-9399-x [doi]
PST - ppublish
SO  - Metab Brain Dis. 2013 Sep;28(3):447-53. doi: 10.1007/s11011-013-9399-x. Epub 2013 
      Mar 22.