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Disease Markers
Volume 28 (2010), Issue 2, Pages 87-93
http://dx.doi.org/10.3233/DMA-2010-0688

Association of Polymorphism in Cytochrome P450 2D6 and N-Acetyltransferase-2 with Parkinson’s Disease

Madhu Singh,1 Vinay K. Khanna,1 Rakesh Shukla,2 and Devendra Parmar1

1Developmental Toxicology Division, Indian Institute of Toxicology Research (Formerly: Industrial Toxicology Research Centre), CSIR, P.O. Box 80, M.G. Marg, Lucknow 226 001, India
2Department of Neurology, Chhatrapati Shahuji Maharaj Medical University, Shahmina Road, Lucknow 226 001, India

Received 25 March 2010; Accepted 25 March 2010

Copyright © 2010 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The present case-control study was carried out to investigate the association of polymorphism in cytochrome P450 2D6 (CYP2D6) and N-acteyltransferase-2 (NAT2), that are involved in the metabolism and detoxification of chemicals causing Parkinson disease (PD) like symptoms, with PD. Our data demonstrated increased frequency of CYP2D6*2 (1749G/C and 2938C/T), CYP2D6*4 (1934G/A) and CYP2D6*10A (188C/T) polymorphisms in PD cases when compared to the controls. Statistical analysis revealed the significant association of CYP2D6*4 (1934G/A) and CYP2D6*10A (188C/T) polymorphism with PD. Likewise, increased frequency of NAT2*7 polymorphism that leads to the slow acetylator phenotype was observed in PD patients with more than fivefold increased risk (OR: 5.55; 95%CI: 0.56–54). No change was observed in the frequency of NAT*5 or NAT*6 alleles in the cases. Further, cases carrying combination of heterozygous genotypes of CYP2D6*4 or CYP2D6*10A(188C > T) and NAT2*5 were found to be at significantly higher risk for PD demonstrating the importance of gene-gene interactions in determining susceptibility to PD.