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Cytochrome P450 2E1 gene polymorphisms/haplotypes and Parkinson's disease in a Swedish population.

Journal article
Authors H Niazi Shahabi
Lars Westberg
Jonas Melke
Anna Håkansson
A Carmine Belin
O Sydow
L Olson
Björn Holmberg
Hans Nissbrandt
Published in Journal of neural transmission (Vienna, Austria : 1996)
Volume 116
Issue 5
Pages 567-73
ISSN 1435-1463
Publication year 2009
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 567-73
Language en
Keywords Age of Onset, Aged, Chromosome Mapping, Cohort Studies, Cytochrome P-450 CYP2E1, genetics, DNA Mutational Analysis, Female, Gene Frequency, genetics, Genetic Markers, genetics, Genetic Predisposition to Disease, genetics, Genetic Testing, Genotype, Haplotypes, genetics, Humans, Linkage Disequilibrium, genetics, Male, Middle Aged, Parkinson Disease, enzymology, genetics, physiopathology, Polymorphism, Genetic, genetics, Polymorphism, Single Nucleotide, genetics, Sweden
Subject categories Pharmacology


Cytochrome P450 2E1 (CYP2E1), which inter alia is located in dopamine containing neurons in the substantia nigra, has been hypothesized to be of importance for the pathophysiology of Parkinson's disease (PD), either by its production of reactive oxygen species (ROS) or by its capability to detoxify putative neurotoxins. Numerous polymorphisms in the coding and non-coding regions of the gene for this enzyme have been reported. Different variants may account for inter-individual differences in the activity of the enzyme or production of ROS. In this study, the CYP2E1 gene was examined in a control population (n = 272) and a population with PD (n = 347), using a tag-single nucleotide polymorphism (tSNP) approach founded on HapMap Data. Six tSNPs were used in the analysis and haplotype block data were obtained. In case of significance, the SNP was further examined regarding early/late age of disease onset and presence of relatives with PD. We found an association between allele and genotype frequencies of the C/G polymorphism at intron 7 (rs2070676) of this gene and PD (P value of 0.026 and 0.027, respectively). Furthermore, analysis of the rs2070676 polymorphism in subgroups of patients with age of disease onset higher than 50 years and those not having a relative with PD also demonstrated a significant difference with controls. This was seen in both genotype (corresponding to P value = 0.039 and 0.032) and allele (P = 0.027 and 0.017 respectively) frequency. As a representative of many polymorphisms or in possible linkage disequilibrium with other functional variants, it is possible that rs2070676 could influence the regulation of the enzyme. In conclusion, our results display an association between the rs2070676 polymorphism and PD. Additional investigations are needed to elucidate the importance of this polymorphism for the activity of CYP2E1 and PD susceptibility.

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