Research Topics
Species | Cyrus ZabetianSummaryAffiliation: University of Washington Country: USA Publications
Research Grants
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Detail Information
Publications
Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's diseaseCyrus P Zabetian
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
Ann Neurol 62:137-44. 2007..We sought to replicate these findings...
A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutationsC P Zabetian
Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA
Neurology 65:741-4. 2005..6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A-->G). These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population...- LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia agoCyrus P Zabetian
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
Am J Hum Genet 79:752-8. 2006..Our data suggest two separate founding events for G2019S in these populations, beginning at a time that coincides with the Jewish Diasporas... - Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson diseaseC P Zabetian
Department of Neurology, University of Washington School of Medicine, Seattle, USA
Neurology 67:697-9. 2006..This suggests that G2019S originated from separate founders in Europe and Japan and is more widely dispersed than previously recognized... - LRRK2 mutations and risk variants in Japanese patients with Parkinson's diseaseCyrus P Zabetian
Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
Mov Disord 24:1034-41. 2009..However, LRRK2 mutations appear to be rare among Japanese patients with PD... - Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern SpainIgnacio F Mata
Geriatric Research Education and Clinical Center S 182, Veterans Affairs Puget Sound Health Care System, 1660 South Columbian Way, Seattle, WA 98108, USA
Neurogenetics 10:347-53. 2009..We hypothesize that R1441G originated in the Basque population and that dispersion of the mutation then occurred through short-range gene flow that was largely limited to nearby regions in Spain... 
LRRK2 mutations in patients with Parkinson's disease from Peru and UruguayIgnacio F Mata
Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98108, USA
Parkinsonism Relat Disord 15:370-3. 2009..Our data add to a growing body of evidence indicating that LRRK2 mutations are widely distributed across South America but might differ by region in prevalence...- Glucocerebrosidase gene mutations: a risk factor for Lewy body disordersIgnacio F Mata
Department of Neurology, University of Washington School of Medicine, Seattle, USA
Arch Neurol 65:379-82. 2008..However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings... - Application of targeted quantitative proteomics analysis in human cerebrospinal fluid using a liquid chromatography matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometer (LC MALDI TOF/TOF) platformSheng Pan
Department of Pathology, University of Washington, Seattle, Washington 98195, USA
J Proteome Res 7:720-30. 2008.... - SNCA variant associated with Parkinson disease and plasma alpha-synuclein levelIgnacio F Mata
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Mailstop S 182, 1660 S Columbian Way, Seattle, WA 98108, USA
Arch Neurol 67:1350-6. 2010..A functional repeat polymorphism in the SNCA promoter (REP1) conveys susceptibility for Parkinson disease (PD). There is also increasing evidence that single-nucleotide polymorphisms (SNPs) elsewhere in the gene are associated with PD risk... - A novel X-linked four-repeat tauopathy with Parkinsonism and spasticityParvoneh Poorkaj
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA
Mov Disord 25:1409-17. 2010..In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3... - The genetics of Parkinson diseaseLynn M Bekris
Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
J Geriatr Psychiatry Neurol 23:228-42. 2010..The function of these genes and their contribution to PD pathogenesis remain to be fully elucidated. The prevalence, incidence, clinical manifestations, and genetic components of PD are discussed in this review... - Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysisMargaret Ragland
Department of Epidemiology, University of Washington, Center for Genomics and Public Health, Box 354921, 6200 NE 74th Street, Building 29, Suite 250, Seattle, WA 98115, USA
Am J Epidemiol 170:1344-57. 2009.... - Lack of evidence for an association between UCHL1 S18Y and Parkinson's diseaseCarolyn M Hutter
Department of Epidemiology, University of Washington, Seattle, WA, USA
Eur J Neurol 15:134-9. 2008..Our results suggest that UCHL1 S18Y is not a major susceptibility factor for PD in white populations although we cannot exclude the possibility that the S18Y variant exerts weak effects on risk, particularly in early-onset disease... - DBH -1021C-->T does not modify risk or age at onset in Parkinson's diseaseLani S Chun
Department of Neurology, University of Washington School of Medicine, Seattle, WA 98108, USA
Ann Neurol 62:99-101. 2007..Furthermore, we found no evidence for an effect of genotype on age at onset among patients. Our findings argue against DBH -1021C-->T as a risk factor or age at onset modifier in PD... - DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's diseaseZhen Hong
Department of Pathology, University of Washington School of Medicine, HMC Box 359635, 325 9th Avenue, Seattle, WA 98104, USA
Brain 133:713-26. 2010..We have demonstrated that total DJ-1 and alpha-synuclein in human cerebrospinal fluid are helpful diagnostic markers for Parkinson's disease, if variables such as blood contamination and age are taken into consideration... - Significance and confounders of peripheral DJ-1 and alpha-synuclein in Parkinson's diseaseMin Shi
Department of Pathology, University of Washington School of Medicine, Seattle, WA 98104, USA
Neurosci Lett 480:78-82. 2010..In conclusion, unlike in cerebrospinal fluid, total DJ-1 or alpha-synuclein in plasma alone is not useful as biomarkers for Parkinson's disease diagnosis or progression/severity... - Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease riskKaren M Powers
Department of Environmental and Occupational Health Sciences, School of Public Health and Community Medicine, University of Washington, Seattle, Washington, USA
Mov Disord 23:88-95. 2008..13, 95% CI = 0.06-0.29). Whether this finding reflects true biologic protection needs to be investigated... - Exploring gene-environment interactions in Parkinson's diseaseColin C McCulloch
Applied Statistics Laboratory, General Electric Global Research Center, Niskayuna, NY, USA
Hum Genet 123:257-65. 2008..The novel findings of this study that warrant replication are the evidence for interaction of coffee with APOE, and of smoking with REP1 on PD risk... - Genetic association between alpha-synuclein and idiopathic Parkinson's diseaseDenise M Kay
New York State Department of Health, Division of Genetic Disorders, Wadsworth Center, Albany, New York 12208, USA
Am J Med Genet B Neuropsychiatr Genet 147:1222-30. 2008..1 for 261/261 to 59.4 +/- 11.5 for 257/257, displaying a trend of decreasing onset age with increasing allele size (P = 0.055). Genetic variation in SNCA and its regulatory regions play an important role in both familial and sporadic PD... - Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyDaniel G Healy
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Lancet Neurol 7:583-90. 2008..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?.. - Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African AmericansYi lang Tang
Department of Psychiatry, Yale University School of Medicine and VA Connecticut Healthcare System, New Haven, CT, USA
Eur J Hum Genet 15:878-83. 2007..0025 and 0.0036, respectively). The data support the validity of prior reported associations and underscore the importance of analyzing multiple SNPs across DBH in future association studies examining disease and biochemical phenotypes... - The structure of linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma dopamine beta-hydroxylase activityCyrus P Zabetian
Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA
Am J Hum Genet 72:1389-400. 2003..These results provide a direct example of the potential value of constructing a haplotype map of the human genome prior to embarking on large-scale association studies... - Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophySonhae Cho
Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, Belmont, Massachusetts 02478, USA
Am J Med Genet A 120:234-6. 2003..In addition, no DBH mutation was found that distinguished autonomic disease patients from controls, suggesting that genetic variants of the DBH gene are not associated with the autonomic diseases OI, PAF, and MSA... - A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-AmericansCyrus P Zabetian
Am J Med Genet A 123:190-2. 2003 - Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutationDenise M Kay
Mov Disord 20:1077-8. 2005 - Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiencyChun Hyung Kim
Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, Belmont, Massachusetts, USA
Am J Med Genet 108:140-7. 2002..Patient 2 carries missense mutations in exons 1 and 6 residing in cis. We propose that NE deficiency is an autosomal recessive disorder resulting from heterogeneous molecular lesions at DBH... - Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinicsDenise M Kay
Genomics Institute, Wadsworth Center, New York State Department of Health, Albany, 12201, USA
Mov Disord 21:519-23. 2006..Age at onset of mutation carriers ranged from 28 to 71 years. Mutation carriers were clinically indistinguishable from idiopathic PD. LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date... - A single nucleotide polymorphism at DBH, possibly associated with attention-deficit/hyperactivity disorder, associates with lower plasma dopamine beta-hydroxylase activity and is in linkage disequilibrium with two putative functional single nucleotide polYilang Tang
Department of Psychiatry, Yale University School of Medicine and VA Connecticut Healthcare System, New Haven, Connecticut, USA
Biol Psychiatry 60:1034-8. 2006..We tested whether 1) SNP2 associates with pDbetaH; and 2) whether linkage disequilibrium (LD) between SNP2 and the other SNPs explains that association... - Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutationsLianna Ishihara
Department of Public Health and Primary Care, University of Cambridge, Cambridge, England
Arch Neurol 63:1250-4. 2006..The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD)... - Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's diseaseDenise M Kay
Wadsworth Center, New York State Department of Health, Albany, NY 12201 2002, USA
Genet Test 10:221-7. 2006..Test results can have psychological, social, and economical ramifications; thus, proper counseling is essential... - Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international studyAlexis Elbaz
INSERM, Unit 708, Paris, France
Lancet Neurol 5:917-23. 2006..INTERPRETATION: Our results do not lend support to the finding that the 13 SNPs reported in the original genome-wide association study are genetic susceptibility factors for Parkinson's disease... - Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patientsDenise M Kay
Wadsworth Center, New York State Department of Health, Albany, NY 12201 2002, USA
Ann Neurol 61:47-54. 2007..We present a comprehensive sequence analysis of parkin in control subjects... - Analysis of the LRRK2 G2019S mutation in Alzheimer DiseaseCyrus P Zabetian
Arch Neurol 63:156-7. 2006 - A genotype-controlled analysis of plasma dopamine beta-hydroxylase in healthy and alcoholic subjects: evidence for alcohol-related differences in noradrenergic functionMichael D Köhnke
University Hospital of Psychiatry and Psychotherapy, Tubingen University Hospital, Tubingen, Germany
Biol Psychiatry 52:1151-8. 2002..A recent study demonstrated a strong association between variance in plasma DbetaH activity and a novel polymorphism (DBH-1021C-->T) at the structural locus (DBH) encoding DbetaH protein... - Genotype-controlled analysis of plasma dopamine beta-hydroxylase activity in psychotic unipolar major depressionJoseph F Cubells
Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06516, USA
Biol Psychiatry 51:358-64. 2002..Plasma DbetaH is under genetic control by the structural locus encoding DbetaH protein, DBH. This study tested the hypothesis that diagnosis-specific allelic variation at DBH accounts for lower plasma DbetaH in UDPF... - Haplotype-controlled analysis of the association of a non-synonymous single nucleotide polymorphism at DBH (+ 1603C --> T) with plasma dopamine beta-hydroxylase activityYilang Tang
Department of Psychiatry, Yale University School of Medicine and VA Connecticut Healthcare System, West Haven, Connecticut
Am J Med Genet B Neuropsychiatr Genet 139:88-90. 2005..These results suggest that altered homospecific activity of the enzyme can contribute to variation in pDbetaH. This conclusion informs how associations between DBH and psychiatric disorders should be approached. (c) 2005 Wiley-Liss, Inc...
Research Grants
- DBH as a Modifying Gene in Neurodegenerative DiseasesCyrus Zabetian; Fiscal Year: 2006The applicant, Dr. Cyrus Zabetian, has spent the past three years as a postdoctoral fellow at Yale University/ VACHS. He will join the neurology faculty at the University of Washington next year where his future mentors, Drs...
- Using Multiplex Families to map Genes that Modify Susceptibility and Age at OnsetCyrus P Zabetian; Fiscal Year: 2010..This work has the potential to discover a new disease gene(s) which could provide important insights into the pathogenesis of PD that ultimately translate into improved strategies for diagnosis, prevention, and treatment. ..