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Absence of effect of seven functional mutations in the cyp2d6 gene in Parkinson's disease

1999; Wiley; Volume: 14; Issue: 4 Linguagem: Inglês

10.1002/1531-8257(199907)14

1531-8257

Oscar Joost, Catherine A. Taylor, Cathi A. Thomas, L. Adrienne Cupples, Marie Saint‐Hilaire, Robert G. Feldman, Clinton T. Baldwin, Richard H. Myers,

Pharmaceutical studies and practices

Movement DisordersVolume 14, Issue 4 p. 590-595 Article Absence of effect of seven functional mutations in the cyp2d6 gene in Parkinson's disease Oscar Joost PhD, Oscar Joost PhD Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorCatherine A. Taylor MSW, MPH, Catherine A. Taylor MSW, MPH Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorCatherine A. Thomas RN, MS, Catherine A. Thomas RN, MS Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorL. Adrienne Cupples PhD, L. Adrienne Cupples PhD Department of Epidemiology and Biostatistics, Boston University School of Public Health, Boston, MA, U.S.A.Search for more papers by this authorMarie H. Saint-Hilaire MD, Marie H. Saint-Hilaire MD Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorRobert G. Feldman MD, Robert G. Feldman MD Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorClinton T. Baldwin PhD, Clinton T. Baldwin PhD Department of Center for Human Genetics, Boston University School of Medicine, Boston, MASearch for more papers by this authorRichard H. Myers PhD, Corresponding Author Richard H. Myers PhD Department of Neurology, Boston University School of Medicine, Boston, MADepartment of Neurology, Boston University School of Medicine, 80 East Concord St. B603D, Boston, MA 02118, U.S.A.Search for more papers by this author Oscar Joost PhD, Oscar Joost PhD Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorCatherine A. Taylor MSW, MPH, Catherine A. Taylor MSW, MPH Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorCatherine A. Thomas RN, MS, Catherine A. Thomas RN, MS Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorL. Adrienne Cupples PhD, L. Adrienne Cupples PhD Department of Epidemiology and Biostatistics, Boston University School of Public Health, Boston, MA, U.S.A.Search for more papers by this authorMarie H. Saint-Hilaire MD, Marie H. Saint-Hilaire MD Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorRobert G. Feldman MD, Robert G. Feldman MD Department of Neurology, Boston University School of Medicine, Boston, MASearch for more papers by this authorClinton T. Baldwin PhD, Clinton T. Baldwin PhD Department of Center for Human Genetics, Boston University School of Medicine, Boston, MASearch for more papers by this authorRichard H. Myers PhD, Corresponding Author Richard H. Myers PhD Department of Neurology, Boston University School of Medicine, Boston, MADepartment of Neurology, Boston University School of Medicine, 80 East Concord St. B603D, Boston, MA 02118, U.S.A.Search for more papers by this author First published: 24 January 2001 https://doi.org/10.1002/1531-8257(199907)14:4 3.0.CO;2-2Citations: 12AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Abstract The reduction or loss of cytochrome P450 enzyme activity as a result of mutations in the CYP2D6 gene has been suggested as a risk factor for Parkinson's disease (PD). Conflicting results among reported studies of the prevalence of mutations among patients with PD suggested a more comprehensive genotyping and an analysis of the interactions with other suspected risk factors and family history. We determined the frequency of seven CYP2D6 mutations among 109 patients with PD and 110 control subjects. Family history of PD, age of onset, exposure to pesticides or herbicides, and well-water consumption were obtained for all cases. There was no significant difference in frequency between patients with PD and control subjects for any mutant allele and no significant association with family history, onset age, or environmental exposures. We sought to increase the power of our study by combining reports from the literature, choosing allele frequencies as the most informative measure. Although we found variability in reported allele frequencies for control subjects that made a meta-analysis problematic, summing all reports demonstrated no difference in CYP2D6 mutation frequency between patients with PD and control subjects. This comprehensive study of CYP2D6 mutations demonstrates that other genes or shared environmental exposures account for the familial risk of PD. REFERENCES 1Bonifati V, Fabrizio E, Vanacore N, De Mari M, Meco G. Familial Parkinson's disease: a clinical genetic analysis. Can J Neurol Sci 1995; 22: 272–279. 10.1017/S0317167100039469 CASPubMedWeb of Science®Google Scholar 2Payami H, Larsen K, Bernard S, Nutt J. Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol 1994; 36: 659–661. 10.1002/ana.410360417 CASPubMedWeb of Science®Google Scholar 3Martilla RJ. 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CASPubMedWeb of Science®Google Scholar Citing Literature Volume14, Issue4July 1999Pages 590-595 ReferencesRelatedInformation