title: 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.
authors.affiliation: Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, 00-927, Warsaw, Poland.
authors.forename: Dagmara
authors.initials: D
authors.lastname: Mirowska-Guzel
authors.forename: Tomasz
authors.initials: T
authors.lastname: Litwin
authors.forename: Grazyna
authors.initials: G
authors.lastname: Gromadzka
authors.forename: Andrzej
authors.initials: A
authors.lastname: Czlonkowski
authors.forename: Anna
authors.initials: A
authors.lastname: Czlonkowska
mesh_terms: D000328:Adult; D000367:Age Factors; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D004247:DNA / Q000235:genetics; D003627:Data Interpretation, Statistical; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009127:Muscle Rigidity / Q000209:etiology; D009422:Nervous System Diseases / Q000209:etiology / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014202:Tremor / Q000209:etiology
chemical_list: D019208:Brain-Derived Neurotrophic Factor; D004247:DNA