Alison Goate

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. pmc Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs
    Elin S Blom
    Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    BMC Med Genet 10:122. 2009
  2. pmc Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease
    Odity Mukherjee
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    BMC Genet 8:3. 2007
  3. pmc In search of causal variants: refining disease association signals using cross-population contrasts
    Nancy L Saccone
    Department of Genetics, Washington University, Campus Box 8232, 4566 Scott Avenue, Saint Louis, Missouri, USA
    BMC Genet 9:58. 2008
  4. ncbi request reprint Interview
    Alison Goate
    Washington University School of Medicine, Department of Psychiatry, 660 S Euclid Ave, St Louis, MO 63110, USA
    Biomark Med 2:541-5. 2008
  5. ncbi request reprint Molecular pathogenesis of sporadic and familial forms of Alzheimer's disease
    W J Ray
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Med Today 4:151-7. 1998
  6. ncbi request reprint Segregation of a missense mutation in the amyloid beta-protein precursor gene with familial Alzheimer's disease
    Alison Goate
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    J Alzheimers Dis 9:341-7. 2006
  7. ncbi request reprint Monogenetic determinants of Alzheimer's disease: APP mutations
    A M Goate
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Cell Mol Life Sci 54:897-901. 1998
  8. ncbi request reprint The genetics of alcoholism
    A M Goate
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Curr Opin Genet Dev 8:282-6. 1998
  9. ncbi request reprint A cholinergic receptor gene (CHRM2) affects event-related oscillations
    Kevin A Jones
    Department of Psychiatry, SUNY Health Science Center, 450 Clarkson Avenue, Box 1203, Brooklyn, NY 11203, USA
    Behav Genet 36:627-39. 2006
  10. ncbi request reprint Using dimensional models of externalizing psychopathology to aid in gene identification
    Danielle M Dick
    Washington University, St Louis, Missouri, USA
    Arch Gen Psychiatry 65:310-8. 2008

Collaborators

Detail Information

Publications94

  1. pmc Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs
    Elin S Blom
    Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    BMC Med Genet 10:122. 2009
    ..Genome-wide linkage studies for Alzheimer's disease have implicated several chromosomal regions as potential loci for susceptibility genes...
  2. pmc Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease
    Odity Mukherjee
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    BMC Genet 8:3. 2007
    ..A recent study showed a significant haplotype association (H1c) with AD. The current study is an attempt to replicate this association in an independently ascertained cohort...
  3. pmc In search of causal variants: refining disease association signals using cross-population contrasts
    Nancy L Saccone
    Department of Genetics, Washington University, Campus Box 8232, 4566 Scott Avenue, Saint Louis, Missouri, USA
    BMC Genet 9:58. 2008
    ..The challenge we address is to distinguish among these correlated loci to highlight potential functional variants and prioritize them for follow-up...
  4. ncbi request reprint Interview
    Alison Goate
    Washington University School of Medicine, Department of Psychiatry, 660 S Euclid Ave, St Louis, MO 63110, USA
    Biomark Med 2:541-5. 2008
    ..Dr Goate has been a member of many scientific Review Boards and currently serves on the Editorial Boards of several journals...
  5. ncbi request reprint Molecular pathogenesis of sporadic and familial forms of Alzheimer's disease
    W J Ray
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Med Today 4:151-7. 1998
    ..Identifying these factors will lead to a better understanding of the etiology of the disease and provide additional targets for therapeutic intervention...
  6. ncbi request reprint Segregation of a missense mutation in the amyloid beta-protein precursor gene with familial Alzheimer's disease
    Alison Goate
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    J Alzheimers Dis 9:341-7. 2006
    ....
  7. ncbi request reprint Monogenetic determinants of Alzheimer's disease: APP mutations
    A M Goate
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Cell Mol Life Sci 54:897-901. 1998
    ..Transgenic mice carrying a mutant human APP gene also show age-dependent beta-amyloid (A beta) deposition in the brain. The rate of deposition in these mice can be modified by apolipoprotein E expression...
  8. ncbi request reprint The genetics of alcoholism
    A M Goate
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Curr Opin Genet Dev 8:282-6. 1998
    ..Genetic studies in animal models of alcohol-related behaviors have also identified candidate chromosomal regions and potential candidate genes that can be tested in human populations...
  9. ncbi request reprint A cholinergic receptor gene (CHRM2) affects event-related oscillations
    Kevin A Jones
    Department of Psychiatry, SUNY Health Science Center, 450 Clarkson Avenue, Box 1203, Brooklyn, NY 11203, USA
    Behav Genet 36:627-39. 2006
    ..These findings underscore the utility of electrophysiology and neurogenetics in the understanding of cognitive function and the study of brain-related disorders...
  10. ncbi request reprint Using dimensional models of externalizing psychopathology to aid in gene identification
    Danielle M Dick
    Washington University, St Louis, Missouri, USA
    Arch Gen Psychiatry 65:310-8. 2008
    ..However, this information has not been widely used in gene identification efforts, which have focused on specific disorders diagnosed using traditional psychiatric classification systems...
  11. ncbi request reprint Association of CHRM2 with IQ: converging evidence for a gene influencing intelligence
    Danielle M Dick
    Department of Psychiatry, Washington University in St Louis, 660 South Euclid Ave, Box 8134, St Louis, MO 63130, USA
    Behav Genet 37:265-72. 2007
    ..These results remain significant after taking into account alcohol dependence and depression diagnoses in the sample...
  12. ncbi request reprint Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP)
    Petra Nowotny
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Med Genet B Neuropsychiatr Genet 144:469-74. 2007
    ..However, we cannot rule out the possibility that multiple rare variants that increase APP expression or Abeta production might influence the risk for LOAD...
  13. pmc A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9
    Danielle M Dick
    Washington University in St Louis, St Louis, Missouri, USA
    Biol Psychiatry 63:1047-53. 2008
    ..To follow up on this linkage region, we systematically screened single nucleotide polymorphisms (SNPs) across a 2 LOD support interval surrounding the alcohol dependence peak...
  14. ncbi request reprint Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1
    Danielle M Dick
    Washington University in St Louis, St Louis, Missouri, USA
    Alcohol Clin Exp Res 31:1645-53. 2007
    ..Recently the genetic polymorphism most widely analyzed in DRD2, Taq1A, has been discovered to reside in a neighboring gene, ankyrin repeat and kinase domain containing 1 (ANKK1), located 10 kb downstream from DRD2...
  15. pmc Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts
    Danielle M Dick
    Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA 23298 0126, USA
    Am J Med Genet B Neuropsychiatr Genet 153:1179-88. 2010
    ..Further, none of the genes were located directly under the primary COGA linkage peak, which has implications for association tests following-up linkage peaks...
  16. ncbi request reprint Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme
    Petra Nowotny
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Med Genet B Neuropsychiatr Genet 136:62-8. 2005
    ..Although our results are not universally negative, we were unable to replicate the results of previous studies and conclude that common variants or haplotypes of these variants in IDE are not major risk factors for LOAD...
  17. ncbi request reprint Association between GABRA1 and drinking behaviors in the collaborative study on the genetics of alcoholism sample
    Danielle M Dick
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Alcohol Clin Exp Res 30:1101-10. 2006
    ....
  18. pmc Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6
    A Joseph Bloom
    Department of Psychiatry, Washington University School of Medicine, 660 South Euclid, Saint Louis, MO 63119, USA
    Hum Mol Genet 21:3050-62. 2012
    ..Lastly, comprehensive genotyping and in vivo metabolism data are used to demonstrate that genome-wide significant associations between CPD and single nucleotide polymorphisms are the result of synthetic associations...
  19. ncbi request reprint Endophenotypes successfully lead to gene identification: results from the collaborative study on the genetics of alcoholism
    Danielle M Dick
    Washington University School of Medicine, St Louis, MO, USA
    Behav Genet 36:112-26. 2006
    ..Our results provide an illustration of the successful use of endophenotypes to identify genes involved in the predisposition to a complex psychiatric phenotype, a strategy originally proposed by Gottesman and Shields in 1972...
  20. pmc Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Arch Neurol 68:581-6. 2011
    ..Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association...
  21. pmc Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease
    Tammie L S Benzinger
    Departments of Radiology, Biostatistics, Neurology, Pathology and Immunology, and Psychiatry, Washington University School of Medicine, St Louis, MO, 63110
    Proc Natl Acad Sci U S A 110:E4502-9. 2013
    ..Additional analyses of individuals in which longitudinal data were available suggested that an accelerated appearance of volumetric declines approximately coincides with the onset of the symptomatic phase of the disease. ..
  22. pmc A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks
    Manav Kapoor
    Department of Psychiatry, B8134, Washington University School of Medicine, 660 S Euclid Ave, St Louis, MO, 63110, USA
    Hum Genet 132:1141-51. 2013
    ....
  23. doi request reprint Effects upon in-vivo nicotine metabolism reveal functional variation in FMO3 associated with cigarette consumption
    A Joseph Bloom
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63119, USA
    Pharmacogenet Genomics 23:62-8. 2013
    ....
  24. ncbi request reprint Alcohol dependence with comorbid drug dependence: genetic and phenotypic associations suggest a more severe form of the disorder with stronger genetic contribution to risk
    Danielle M Dick
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Addiction 102:1131-9. 2007
    ....
  25. ncbi request reprint A genomic scan for habitual smoking in families of alcoholics: common and specific genetic factors in substance dependence
    Laura Jean Bierut
    School of Medicine, Washington University School of Medicine, 4940 Children s Place, St Louis, MO 63110, USA
    Am J Med Genet A 124:19-27. 2004
    ..Finally, there is also evidence of an area on chromosome 2 that may reflect a common genetic vulnerability locus to both habitual smoking and alcohol dependence...
  26. ncbi request reprint Conserved residues in juxtamembrane region of the extracellular domain of nicastrin are essential for gamma-secretase complex formation
    Emily S Walker
    Departments of Psychiatry, Neurology and Genetics, Washington University School of Medicine, St Louis, Missouri, USA
    J Neurochem 98:300-9. 2006
    ..Since NCT and APH-1 must first bind in order for presenilin and PEN-2 to stably join the complex, we propose that S632 and W648 are essential for a stable interaction with APH-1...
  27. doi request reprint A compensatory effect upon splicing results in normal function of the CYP2A6*14 allele
    A Joseph Bloom
    Department of Psychiatry bTissue Procurement Core, Laboratory for Translational Pathology, Washington University School of Medicine, St Louis, Missouri 63119, USA
    Pharmacogenet Genomics 23:107-16. 2013
    ..These results show the importance of common genetic variants that effect exonic splicing suppressor and ESEs to explain human variation regarding clinically-relevant phenotypes...
  28. ncbi request reprint Linkage analyses of IQ in the collaborative study on the genetics of alcoholism (COGA) sample
    Danielle M Dick
    Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA
    Behav Genet 36:77-86. 2006
    ..Our findings provide further support that chromosome 6p contains gene(s) affecting intelligence...
  29. pmc Role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring
    Danielle M Dick
    Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Department of Psychiatry, PO Box 980126, Richmond, VA 23298 0126, USA
    Arch Gen Psychiatry 66:649-57. 2009
    ....
  30. ncbi request reprint Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease
    Scott Smemo
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Street, St Louis, MO 63110, USA
    Ann Neurol 59:21-6. 2006
    ..We did not find any evidence that this single nucleotide polymorphism, or any of six others tested in UBQLN1, increases risk for LOAD...
  31. pmc Dosage transmission disequilibrium test (dTDT) for linkage and association detection
    Zhehao Zhang
    Washington University School of Medicine, Department of Psychiatry, St Louis, Missouri, USA
    PLoS ONE 8:e63526. 2013
    ....
  32. ncbi request reprint The search for genetic risk factors associated with suicidal behavior
    Victor Hesselbrock
    Department of Psychiatry, University of Connecticut School of Medicine, Farmington, Connecticut, USA
    Alcohol Clin Exp Res 28:70S-76S. 2004
    ....
  33. pmc Pathogenic cysteine mutations affect progranulin function and production of mature granulins
    Jun Wang
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    J Neurochem 112:1305-15. 2010
    ..Our data suggest that these mutations affect the function of full-length PGRN as well as elastase cleavage of PGRN into GRNs, leading to neurodegeneration...
  34. pmc Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease
    Petra Nowotny
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurosci Lett 419:15-7. 2007
    ..A meta-analysis of two promoter SNPs, which combined the data from this study with two previous ones, did not show any association either suggesting that common SNPs in Pin1 do not increase the risk for LOAD...
  35. ncbi request reprint Conserved "PAL" sequence in presenilins is essential for gamma-secretase activity, but not required for formation or stabilization of gamma-secretase complexes
    Jun Wang
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurobiol Dis 15:654-66. 2004
    ..Other non-conservative mutations in the invariant P(433)A(434)L(435) sequence also result in a phenotype that is indistinguishable from the aspartate mutants, suggesting a direct involvement of this sequence in gamma-secretase activity...
  36. doi request reprint Pharmacotherapy effects on smoking cessation vary with nicotine metabolism gene (CYP2A6)
    Li Shiun Chen
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    Addiction 109:128-37. 2014
    ..We examine the effect of CYP2A6 genotype on smoking cessation success and response to cessation pharmacotherapy, and combine these effects with those of CHRNA5 genotypes...
  37. doi request reprint DSM-5 cannabis use disorder: A phenotypic and genomic perspective
    Arpana Agrawal
    Washington University School of Medicine, Department of Psychiatry, St Louis, MO, USA Electronic address
    Drug Alcohol Depend 134:362-9. 2014
    ..We also estimate the heritability of DSM-5 cannabis use disorders explained by these common SNPs...
  38. pmc Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis
    Bruno A Benítez
    Department of Psychiatry, Washington University, St Louis, Missouri, United States of America
    PLoS ONE 6:e26741. 2011
    ....
  39. ncbi request reprint Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios
    Emily S Walker
    Department of Psychiatry and Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurochem 92:294-301. 2005
    ..PS2 M239V, its PS1 homolog M233V, and other FAD mutations within transmembrane (TM) 5 of PS1 differentially affect CTFgamma and NICD production suggesting that TM5 of PS are important for gamma-secretase cleavage of APP but not Notch...
  40. pmc The contribution of common CYP2A6 alleles to variation in nicotine metabolism among European-Americans
    Joseph Bloom
    Department of Psychiatry, Washington University School of Medicine, Saint Louis, Missouri, USA
    Pharmacogenet Genomics 21:403-16. 2011
    ..To study the association between cytochrome P450 2A6 (CYP2A6) genotype and metabolism of nicotine to cotinine, identify functional polymorphisms, and develop a predictive genetic model of nicotine metabolism...
  41. ncbi request reprint C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation
    Jun Wang
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurochem 96:218-27. 2006
    ..Together, these observations strongly support the hypothesis that the PAL motif contributes to the active site conformation of gamma-secretase and of SPP...
  42. ncbi request reprint Defining alcohol-related phenotypes in humans. The Collaborative Study on the Genetics of Alcoholism
    Laura Jean Bierut
    Washington University School of Medicine, St Louis, Missouri, USA
    Alcohol Res Health 26:208-13. 2002
    ..Genetic analyses have identified regions on several chromosomes that are associated with these phenotypes and need to be studied further...
  43. ncbi request reprint Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition
    Kevin A Jones
    Department of Psychiatry, Neurodynamics Laboratory, SUNY Health Science Center, 450 Clarkson Avenue, Box 1203, Brooklyn, NY 11203, USA
    Int J Psychophysiol 53:75-90. 2004
    ..001). These findings were not observed for the equivalent non-target case data, suggesting a role for the CHRM2 gene in higher cognitive processing in humans...
  44. pmc Common polymorphisms in FMO1 are associated with nicotine dependence
    Anthony L Hinrichs
    Departments of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63119, USA
    Pharmacogenet Genomics 21:397-402. 2011
    ..A better understanding of the etiology of nicotine addiction may help to increase the success rate of cessation and to decrease the massive morbidity and mortality associated with smoking...
  45. pmc Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus
    Bernice Porjesz
    Department of Psychiatry, State University of New York, Health Science Center, Brooklyn, NY 11203, USA
    Proc Natl Acad Sci U S A 99:3729-33. 2002
    ..Uncovering the genes influencing brain oscillations provides a better understanding of the neural function involved in information processing...
  46. doi request reprint The contribution of common UGT2B10 and CYP2A6 alleles to variation in nicotine glucuronidation among European Americans
    A Joseph Bloom
    aDepartment of Psychiatry, Washington University School of Medicine, St Louis, Missouri bDepartment of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA
    Pharmacogenet Genomics 23:706-16. 2013
    ..To develop a predictive genetic model of nicotine metabolism. UDP-glucuronosyltransferase-2B10 (UGT2B10) is the primary catalyst of nicotine glucuronidation...
  47. pmc Parkinson disease is not associated with C9ORF72 repeat expansions
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
    Neurobiol Aging 34:1519.e1-2. 2013
    ..Three control subjects were found to be expansion carriers, and no expansions were found among patients, suggesting that C9ORF72 expansions are not a common cause of PD...
  48. ncbi request reprint Linkage mapping of beta 2 EEG waves via non-parametric regression
    Saurabh Ghosh
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid, Campus Box 8134, St Louis, MO 63110 1093, USA
    Am J Med Genet B Neuropsychiatr Genet 118:66-71. 2003
    ..While regressing out the effect of alcoholism does not affect the linkage findings, the epistatic interactions become statistically insignificant...
  49. pmc Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia
    Odity Mukherjee
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Hum Mutat 29:512-21. 2008
    ....
  50. pmc A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis
    Eric H Schroeter
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 100:13075-80. 2003
    ..We propose that gamma-secretase contains a PS dimer in its catalytic core, that binding of substrate is at a site separate from the active site, and that substrate is cleaved at the interface of two PS molecules...
  51. pmc Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Neurobiol Aging 34:2234.e13-9. 2013
    ..Finally we also show evidence of somatic instability of the expansion size by Southern blot, with the largest expansions occurring in brain tissue...
  52. pmc CYP2B6 non-coding variation associated with smoking cessation is also associated with differences in allelic expression, splicing, and nicotine metabolism independent of common amino-acid changes
    A Joseph Bloom
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, United States of America
    PLoS ONE 8:e79700. 2013
    ..These results indicate differences in mRNA expression and splicing as potential molecular mechanisms by which non-coding variation in CYP2B6 may affect enzymatic activity leading to differences in metabolism and smoking cessation. ..
  53. pmc Clinical and biomarker changes in dominantly inherited Alzheimer's disease
    Randall J Bateman
    Washington University School of Medicine, Department of Neurology, 660 S Euclid Ave, Box 8111, St Louis, MO 63110, USA
    N Engl J Med 367:795-804. 2012
    ..Autosomal dominant Alzheimer's disease has a predictable age at onset and provides an opportunity to determine the sequence and magnitude of pathologic changes that culminate in symptomatic disease...
  54. pmc APOE4 allele disrupts resting state fMRI connectivity in the absence of amyloid plaques or decreased CSF Aβ42
    Yvette I Sheline
    Department of Psychiatry, The Knight Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 30:17035-40. 2010
    ....
  55. ncbi request reprint Full genome screen for Alzheimer disease: stage II analysis
    Amanda Myers
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Med Genet 114:235-44. 2002
    ..Of the seven markers we tested in family-based and case control samples, the only nominally positive association we found was with the 167 bp allele of marker D10S1217 (chi-square=7.11, P=0.045, df=1)...
  56. ncbi request reprint Linkage for platelet monoamine oxidase (MAO) activity: results from a replication sample
    Nancy L Saccone
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Alcohol Clin Exp Res 26:603-9. 2002
    ..These families were recruited as part of the Collaborative Study on the Genetics of Alcoholism (COGA)...
  57. pmc Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms
    A Joseph Bloom
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    Hum Mol Genet 23:555-61. 2014
    ..These results indicate a previously unappreciated novel mechanism behind genome-wide significant associations with cigarette consumption and disease risk unrelated to nicotine metabolism. ..
  58. pmc Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
    Sheng Chih Jin
    Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St, Louis, MO 63110, USA
    Alzheimers Res Ther 4:34. 2012
    ..We utilized NGS to identify rare and pathogenic variants in APP, PSEN1, PSEN2, GRN, and MAPT in an Ibero-American cohort...
  59. pmc Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges
    Arpana Agrawal
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Clin Nutr 95:539-47. 2012
    ..In this review, we discuss the challenges associated with harmonizing alcohol-consumption data from studies with widely different assessment instruments, with a particular focus on large-scale genetic studies...
  60. ncbi request reprint Linkage and linkage disequilibrium mapping of ERP and EEG phenotypes
    Bernice Porjesz
    Department of Psychiatry, State University of New York, Health Science Center at Brooklyn, Box 1203, HSCB, 450 Clarkson Avenue, Brooklyn, NY 11203 2098, USA
    Biol Psychol 61:229-48. 2002
    ..The advent of genomics and proteomics and a fuller understanding of gene regulation, will open new horizons on the critical electrical events so essential for human brain function...
  61. pmc Characterization of N-terminal processing of group VIA phospholipase A2 and of potential cleavage sites of amyloid precursor protein constructs by automated identification of signature peptides in LC/MS/MS analyses of proteolytic digests
    Haowei Song
    Washington University School of Medicine, St Louis, MO 63110, USA
    J Am Soc Mass Spectrom 15:1780-93. 2004
    ..The program has been applied to the identification of variants of proteins of biological interest, including APP cleavage products and iPLA(2)beta, and such applications demonstrate the utility of this approach...
  62. ncbi request reprint Presenilin-1 protects against neuronal apoptosis caused by its interacting protein PAG
    Yan Zhou
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neurobiol Dis 9:126-38. 2002
    ....
  63. pmc Increased in vivo amyloid-β42 production, exchange, and loss in presenilin mutation carriers
    Rachel Potter
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Sci Transl Med 5:189ra77. 2013
    ....
  64. doi request reprint Mapping the road forward in Alzheimer's disease
    David M Holtzman
    Department of Neurology, Washington University, St Louis, MO 63110, USA
    Sci Transl Med 3:114ps48. 2011
    ..We hope these recommendations will boost research progress in AD and increase the likelihood of developing effective therapies in the near future...
  65. doi request reprint Twenty years of Alzheimer's disease-causing mutations
    Alison Goate
    Departments of Psychiatry, Neurology and Genetics, Washington University School of Medicine, St Louis, Missouri, USA
    J Neurochem 120:3-8. 2012
    ..We also briefly discuss the effects finding APP mutations has had on our own careers and those of our colleagues from 1991...
  66. ncbi request reprint Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization
    Raphael Kopan
    Department of Pharmacology and Molecular Biology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuron 33:321-4. 2002
    ..The transmembrane protein Nicastrin has been found to associate with Presenilin, Notch, and APP. Recent biochemical and genetic studies have focused on elucidating the function of this protein...
  67. pmc Assessment and familial aggregation of psychosis in Alzheimer's disease from the National Institute on Aging Late Onset Alzheimer's Disease Family Study
    Robert A Sweet
    Department of Psychiatry, University of Pittsburgh, Biomedical Science Tower, Rm W 1645, 3811 O Hara Street, Pittsburgh, PA 15213 2593, USA
    Brain 133:1155-62. 2010
    ..Future studies should examine the linkage and association of psychosis with genetic variation within these families...
  68. ncbi request reprint Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD
    Amanda J Myers
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet B Neuropsychiatr Genet 124:29-37. 2004
    ..Eight polymorphisms spanning the entire gene were examined using case control (CC) and family-based association methods. No association was observed by any method making it unlikely that variation in PLAU explains our linkage data...
  69. ncbi request reprint Genome-wide scan and conditional analysis in bipolar disorder: evidence for genomic interaction in the National Institute of Mental Health genetics initiative bipolar pedigrees
    Melvin G McInnis
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21287 7463, USA
    Biol Psychiatry 54:1265-73. 2003
    ..The first 97 pedigrees showed evidence of linkage to chromosomes 1, 6, 7, 10, 16, and 22 (Nurnberger et al 1997). An additional 56 bipolar families have been genotyped, and the combined sample of 153 pedigrees studied...
  70. ncbi request reprint Novel haplotypes in 17q21 are associated with progressive supranuclear palsy
    Pau Pastor
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 56:249-58. 2004
    ..The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the hypothesis that a pathogenic allele exists in a subgroup of PSP patients...
  71. ncbi request reprint Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred
    Pau Pastor
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    Ann Neurol 54:163-9. 2003
    ..This study is the first to our knowledge to demonstrate that genetic and environmental factors influence age of onset in a kindred with a familial AD mutation...
  72. pmc Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples
    Scott F Saccone
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 80:856-66. 2007
    ..Fine mapping of this linkage region may reveal variants contributing to heaviness of smoking, which will lead to a better understanding of the genetic mechanisms underlying nicotine dependence...
  73. ncbi request reprint Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation
    John S K Kauwe
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    Ann Neurol 61:446-53. 2007
    ..Mutations in presenilin 1 (PSEN1) are known to cause AD and change Abeta levels. In this study, we have investigated DNA sequence variation in the presenilin (PSEN1) gene using CSF Abeta levels as an endophenotype for AD...
  74. ncbi request reprint Functional variants in TAS2R38 and TAS2R16 influence alcohol consumption in high-risk families of African-American origin
    Jen C Wang
    Washington University in St Louis, MO 63110, USA
    Alcohol Clin Exp Res 31:209-15. 2007
    ..The perceived bitterness of PROP has also been associated with oral sensation and drinking behaviors...
  75. ncbi request reprint Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation
    Maria I Behrens
    Alzheimer s Disease Research Center, Department of Pathology and Immunology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Alzheimer Dis Assoc Disord 21:1-7. 2007
    ..5913 A>G (IVS6-2 A>G) segregating with FTLD-U in this kindred. In conclusion, HDDD1 is an FTLD-U caused by a PGRN mutation and is neuropathologically heterogeneous with Alzheimer disease as a common comorbidity...
  76. pmc Novel genes identified in a high-density genome wide association study for nicotine dependence
    Laura Jean Bierut
    Department of Psychiatry, Washington University School of Medicine, 660 South Euclid, Box 8134, St Louis, MO 63110, USA
    Hum Mol Genet 16:24-35. 2007
    ..This work anticipates the future directions of large-scale genome wide association studies with state-of-the-art methodological approaches and sharing of data with the scientific community...
  77. pmc Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs
    Scott F Saccone
    Department of Psychiatry, Box 8134, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Hum Mol Genet 16:36-49. 2007
    ..Other genes among the top signals were KCNJ6 and GABRA4. This study represents one of the most powerful and extensive studies of nicotine dependence to date and has found novel risk loci that require confirmation by replication studies...
  78. pmc HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
    Odity Mukherjee
    Washington University Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 60:314-22. 2006
    ....
  79. ncbi request reprint Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life
    B Joy Snider
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO, USA
    Arch Neurol 62:1821-30. 2005
    ..We describe herein a kindred with very early-onset FAD (age, <40 years) with unusual pathological features and a novel mutation in the presenilin 1 (PSEN1) gene (S170F) and review the existing literature on very early-onset FAD...
  80. pmc TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
    Nigel J Cairns
    MRCPath, Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, St Louis, MO 63110, USA
    Am J Pathol 171:227-40. 2007
    ....
  81. ncbi request reprint Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome
    Jen C Wang
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 13:1903-11. 2004
    ..These findings provide strong evidence that variants within or close to the CHRM2 locus influence risk for two common psychiatric disorders...
  82. ncbi request reprint Molecular genetics of Alzheimer's disease
    Pau Pastor
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Curr Psychiatry Rep 6:125-33. 2004
    ..In this article, the authors will review the progress in understanding the pathogenic implications of the genes mutated in familial early onset AD and the mapping studies to identify additional genes involved in late-onset AD...
  83. doi request reprint Gamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study
    Arpana Agrawal
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Addiction 103:1027-38. 2008
    ....
  84. pmc Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence
    Scott F Saccone
    Department of Psychiatry, Washington University School of Medicine, Saint Louis, Missouri 63110, USA
    Bioinformatics 24:1805-11. 2008
    ..A challenging problem after a genome-wide association study (GWAS) is to balance the statistical evidence of genotype-phenotype correlation with a priori evidence of biological relevance...
  85. pmc Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition
    John S K Kauwe
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 105:8050-4. 2008
    ....
  86. doi request reprint An autosomal linkage scan for cannabis use disorders in the nicotine addiction genetics project
    Arpana Agrawal
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Ave, Campus Box 8134, St Louis, MO 63110, USA
    Arch Gen Psychiatry 65:713-21. 2008
    ..Despite accumulating evidence that there is a genetic basis for cannabis use disorders (ie, abuse and dependence), few studies have identified genomic regions that may harbor biological risk and protective factors...
  87. pmc Variants in nicotinic receptors and risk for nicotine dependence
    Laura Jean Bierut
    Department of Psychiatry, Washington University School of Medicine, Box 8134, 660 South Euclid Ave, St Louis, MO 63110, USA
    Am J Psychiatry 165:1163-71. 2008
    ....
  88. pmc Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life
    John S K Kauwe
    Department of Psychiatry, Washington University School of Medicine, United States
    Neurosci Lett 438:257-9. 2008
    ..The P117A variant is a novel mutation in PSEN1, which causes early-onset AD in an autosomal dominant manner...
  89. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
    ..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration...
  90. pmc Linkage scan for quantitative traits identifies new regions of interest for substance dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) sample
    Arpana Agrawal
    Washington University School of Medicine, St Louis, MO 63110, USA
    Drug Alcohol Depend 93:12-20. 2008
    ..0 on chromosome 2 (3.2, 234 cM), 10 (2.4 and 2.6 at 60 cM and 116 cM) and 13 (2.1 at 64 cM). These regions may harbor genes that contribute to the biological basis of alcohol and drug dependence...
  91. pmc Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence
    Anthony L Hinrichs
    Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 78:103-11. 2006
    ..6%), whereas 45% of African Americans carry the allele (MAF 26%), which makes it a much more significant risk factor in the African American population...
  92. ncbi request reprint Presenilin endoproteolysis is an intramolecular cleavage
    Anne L Brunkan
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Cell Neurosci 29:65-73. 2005
    ..Lack of transcleavage by wtPS1 suggests that PS1 endoproteolysis occurs via intramolecular cleavage and does not require dimerization...
  93. ncbi request reprint Mutations in APP have independent effects on Abeta and CTFgamma generation
    Silva Hecimovic
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurobiol Dis 17:205-18. 2004
    ..These results suggest that cleavage at the gamma40/42- and the S3-like sites can be dissociated, and that APP signaling and Abeta production are not tightly linked...
  94. pmc Risk factors for neurocognitive dysfunction after cardiac surgery in postmenopausal women
    Charles W Hogue
    Department of Anesthesiology and Critical Care Medicine, The Johns Hopkins Bloomberg School of Public Health, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA
    Ann Thorac Surg 86:511-6. 2008
    ..Women are at higher risk than men for neurologic complications from cardiac operations. This study identified risk factors for neurocognitive dysfunction after cardiac operations in elderly women...

Research Grants20

  1. Genomic Search for Susceptibility to Alzheimer Diseae
    Alison Goate; Fiscal Year: 2003
    ..Putative risk alleles/haplotypes will be tested for a functional effect on A-Beta levels in an in vitro model. Risk alleles will be characterized in several populations to determine their importance. ..
  2. Genomic Search for Susceptibility to Alzheimer Disease
    Alison Goate; Fiscal Year: 2007
    ..Putative risk alleles/haplotypes will be tested for a functional effect on Abeta levels in an in vitro model. Risk alleles will be characterized in several populations to determine their importance. ..
  3. Genomic Search for Susceptibility to Alzheimer Disease
    Alison M Goate; Fiscal Year: 2010
    ..The use of case-control and endophenotype measures in CSF provides a powerful and novel approach to the genetics of LOAD. ..
  4. GENOMIC SEARCH FOR SUSCEPTIBILITY--ALZHEIMER DISEASE
    Alison Goate; Fiscal Year: 2002
    ..Finally, we will complete a 20cM genome screen in the replication sample increasing the effective sample size to 600 sib pairs, enabling us to look for genes of smaller effect size. ..
  5. ROLE OF PRESENILIN IN NOTCH AND APP MATURATION
    Alison Goate; Fiscal Year: 2003
    ..We also anticipate that these studies will increase our understanding of the Notch signaling, a process that is important not only for many developmental decisions but for cancer as well. ..
  6. Use of Endophenotypes in the Search for Alzheimer's Disease Risk Genes
    Alison M Goate; Fiscal Year: 2010
    ..The goal of the present study is to identify genetic risk factors for Alzheimer's disease, which in the longer term may lead to novel drug targets and improved treatment/prevention of the disease. ..