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Nuclear factor erythroid 2-like 2 encodes a transcription factor regulating mechanisms of cellular protection and is activated by oxidative stress. has therefore been hypothesized to confer protection against Parkinson's disease and so far an haplotype has been reported to decrease the risk of developing disease and delay disease onset. Also adopts a nuclear localization in Parkinson's disease, which is indicative of increased activity. We have investigated the association between and Parkinson's disease in a Swedish case-control material and whether expression levels correlate with genetic variants, disease, or disease onset. Using pyrosequencing, we genotyped one intronic and three promoter variants in 504 patients and 509 control subjects from Stockholm. Further, we quantified mRNA expression in EBV transfected human lymphocytes from patients and controls using quantitative real-time reverse transcription PCR. We found that one of the promoter variants, rs35652124, was associated with age of disease onset (Χ = 14.19, value = 0.0067). mRNA expression levels however did not correlate with the rs35652124 genotype, Parkinson's disease, or age of onset in our material. More detailed studies on are needed in order to elucidate how this gene affects pathophysiology of Parkinson's disease.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433415 | PMC |
| http://dx.doi.org/10.1155/2017/4020198 | DOI Listing |
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