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BDNF Val66Met polymorphism is associated with cognitive impairment in Italian patients with Parkinson’s disease
Author(s) -
Guerini F. R.,
Beghi E.,
Riboldazzi G.,
Zangaglia R.,
Pianezzola C.,
Bono G.,
Casali C.,
Di Lorenzo C.,
Agliardi C.,
Nappi G.,
Clerici M.,
Martigi E.
Publication year - 2009
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2009.02706.x
Subject(s) - medicine , genotype , brain derived neurotrophic factor , polymorphism (computer science) , disease , parkinson's disease , univariate analysis , oncology , cohort , cognition , cognitive impairment , multivariate analysis , gastroenterology , neurotrophic factors , psychiatry , genetics , biology , receptor , gene
Background and purpose: A possible association between Parkinson’s disease (PD) and the polymorphism of Brain Derived Neurotrophic Factor (BDNF) G196A (Val66Met) has been suggested by different studies that nevertheless yielded‐contrasting result. The purpose of this study was to analyze such possible association in a cohort of Italian PD patients. Methods: The BDNF polymorphisms were analyzed in 294 Italian patients with PD; results were compared to those obtained in 233 age‐ and sex‐matched healthy controls (HC) enrolled from two tertiary centres in Italy. Polymorphisms were determined by Restriction Fragment Length Polymorphism (RFLP) analysis; correlations between BDNF G196A polymorphism, and cognitive function were established by sub analyzing the results upon dividing PD patients based on their Mini Mental State Examination (MMSE) score. Results: Univariate analysis showed a highly significant correlation between the BDNF(AA) genotype and a MMSE score ≤24. Hence, the distribution of this genotype in PD individuals with a MMSE score ≤24 was significantly increased compared to PD patients with an MMSE score >24 and HC ( P < 0.001 in both cases). Multivariate analyses showed that BDNF (AA) genotype was associated to a sixfold risk of cognitive impairment. Conclusions: The BDNF(AA) homozygote genotype is over‐represented in PD patients compared with normal individuals; this genotype was significantly correlated to cognitive impairment, age and disease severity. These results, although preliminary, could be important in establishing novel diagnostic and therapeutic approaches to PD.