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Genomes and GenesSpecies | Julie WilliamsSummaryAffiliation: Cardiff University Country: UK Publications
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Publications
The genetics of developmental dyslexiaJulie Williams
Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
Eur J Hum Genet 14:681-9. 2006..In this review, we present the evidence for a genetic contribution to DD and its component processes and review the current status of molecular genetic research aimed at identifying susceptibility genes for this common, complex disorder...- Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's diseaseMarian L Hamshere
Biostatistics and Bioinformatics Unit, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 16:2703-12. 2007..Where samples overlapped, the genotyping consistency was high, estimated to average at 97.3%. Our large-scale linkage analysis consolidates clear evidence for a susceptibility locus for LOAD on 10q21.2... - Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairsElin 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... - Pinpointing key mechanisms in Alzheimer's disease developmentJulie Williams
MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK
Alzheimers Res Ther 2:4. 2010..Further identification and refinement of putative disease mechanisms is likely as the genetic architecture of AD is uncovered through current large-scale association and sequencing studies... - An association study of common variation at the MAPT locus with late-onset Alzheimer's diseaseRichard Abraham
Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, UK
Am J Med Genet B Neuropsychiatr Genet 150:1152-5. 2009..In summary, we find no evidence for allelic or haplotypic association, with SNPs in the MAPT gene and LOAD. SNP rs242557 is nominally significant in the APOE4 positive individuals. None of the SNPs studied modified AAO for LOAD... - Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's diseaseLesley Jones
Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff, United Kingdom
PLoS ONE 5:e13950. 2010..We have now exploited these GWAS datasets to uncover key LOAD pathophysiological processes... - Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's diseasePaul Hollingworth
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
Nat Genet 43:429-35. 2011..0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10))... - No evidence that extended tracts of homozygosity are associated with Alzheimer's diseaseRebecca Sims
MRC Centre for Neuropyschiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University, Heath Park
Am J Med Genet B Neuropsychiatr Genet 156:764-71. 2011..We found no excess of homozygous tracts in Alzheimer's disease cases compared to controls and no individual run of homozygosity showed association to Alzheimer's disease... - The role of variation at A?PP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's diseaseAmy Gerrish
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK
J Alzheimers Dis 28:377-87. 2012..However, the gene-wide effect observed at MAPT indicates a possible contribution to disease risk which requires further study... - Alzheimer's disease genetics: current knowledge and future challengesPaul Hollingworth
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
Int J Geriatr Psychiatry 26:793-802. 2011..Here we discuss progress to date in identifying risk genes for dementia, ways forward and how current findings are refining previous ideas and defining new putative primary disease mechanisms... - Genetic evidence for the involvement of lipid metabolism in Alzheimer's diseaseLesley Jones
MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Heath Park, Cardiff University, CF14 4XN, UK
Biochim Biophys Acta 1801:754-61. 2010..Four new genes for common AD have been revealed in the past year, CLU, CR1, PICALM and BIN1. Their possible involvement in lipid metabolism and how that relates to AD is discussed here... - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's diseaseDenise Harold
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
Nat Genet 41:1088-93. 2009..5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86)... - Four components describe behavioral symptoms in 1,120 individuals with late-onset Alzheimer's diseasePaul Hollingworth
Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff, United Kingdom
J Am Geriatr Soc 54:1348-54. 2006..CONCLUSION: Four behavioral components were identified that were comparable with those observed previously. Future analysis of these components will strengthen understanding of the underlying pathology of behavioral symptoms and AD... - Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's diseasePeter Holmans
Biostatistics and Bioinformatics Unit, Wales College of Medicine, Heath Park, Cardiff, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 135:24-32. 2005..08) and chromosome 9 (max LOD = 3.34). The previously reported genome-wide linkage of AD to chromosome 10 was not influenced by any of the covariates studied... - Memory for new information as a cognitive marker of liability to Alzheimer's disease in a high risk group: a research noteFrances Rice
Department of Psychological Medicine, 4th Floor, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
Int J Geriatr Psychiatry 18:155-60. 2003..The development of Alzheimer's disease (AD) is often insidious and there is evidence that pre-morbid neuropsychological deficits exist... - A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's diseaseDenise Harold
Department of Psychological Medicine, Cardiff University, Cardiff, UK
Pharmacogenet Genomics 16:75-7. 2006..Treatment with acetylcholinesterase (AChE) inhibitors aims to reverse this deficit and does ameliorate the decline in cognition in some AD patients, although response is variable... - Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypesNicholas J Bray
Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
Hum Mol Genet 13:2885-92. 2004..02). Our data indicate that, in human brain, most of the cis-acting variance in APOE expression is accounted for by the epsilon4 haplotype, but there are additional, small, cis-acting influences associated with promoter genotype... - Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexiaNatalie Cope
Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Cardiff, United Kingdom
Am J Hum Genet 76:581-91. 2005..006 in trios; 1-degree-of-freedom tests). Our data strongly implicate KIAA0319 as a susceptibility gene for dyslexia. The gene product is expressed in brain, but its specific function is currently unknown... - Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's diseaseDenise Harold
Department of Psychological Medicine, University of Wales College of Medicine, CF14 4XN, Cardiff, UK
Hum Genet 113:258-67. 2003..Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium... - Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's diseaseYonghong Li
Celera, 1401 Harbor Bay Parkway, Alameda, CA 94502, USA
Hum Mol Genet 17:759-67. 2008..These data implicate NEDD9 as a novel susceptibility gene for LOAD and possibly PD... - Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further studyLynnette J Cook
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2XY, UK
Am J Med Genet B Neuropsychiatr Genet 132:5-8. 2005..Replication analyses of these two loci failed to detect any significant association for disease in our case-control samples... - Complement factor H Y402H polymorphism is not associated with late-onset Alzheimer's diseaseGillian Hamilton
MRC Centre for Neurodegeneration, Institute for Psychiatry, Kings College London, Denmark Hill, London SE5 8AF, UK
Neuromolecular Med 9:331-4. 2007..However, it remains possible that another variant in this gene may modify susceptibility for late-onset Alzheimer's disease... - Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer diseaseHao Li
GlaxoSmithKline, Research Triangle Park, North Carolina, USA
Arch Neurol 65:45-53. 2008..To identify single-nucleotide polymorphisms (SNPs) associated with risk and age at onset of Alzheimer disease (AD) in a genomewide association study of 469 438 SNPs... - SORL1 variants and risk of late-onset Alzheimer's diseaseYonghong Li
Celera, 1401 Harbor Bay Parkway, Alameda, CA, USA
Neurobiol Dis 29:293-6. 2008..035); however, this result does not remain significant when accounting for multiple comparisons. Further validation in other sample sets will be required to assess the true effects of SORL1 variants in LOAD... - Candidate gene association study of insulin signaling genes and Alzheimer's disease: evidence for SOS2, PCK1, and PPARgamma as susceptibility lociGillian Hamilton
MRC Centre for Neurodegeneration Research, Department of Neuroscience, Institute of Psychiatry, Kings College London, Denmark Hill, London, UK
Am J Med Genet B Neuropsychiatr Genet 144:508-16. 2007..In particular, our data suggest that the effect of variants within these genes might be influenced by gender... - Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene familyYonghong Li
Celera Diagnostics, Alameda, CA 94502, USA
Proc Natl Acad Sci U S A 101:15688-93. 2004..Our observations raise the possibility that GAPD genes are AD risk factors, a hypothesis that is consistent with the role of GAPD in neuronal apoptosis... - Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's diseaseVictoria Busby
Department of Neuroscience, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, United Kingdom
Neuromolecular Med 5:133-46. 2004..None of these SNPs was associated with disease. Although an excellent candidate, we conclude that CTNNA3 is unlikely to account for the AD susceptibility locus on chromosome 10... - Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer diseaseYonghong Li
Celera Diagnostics, Alameda, California 94502, USA
Hum Mutat 25:270-7. 2005..43 [95% CI: 1.61-3.67]; OR(het)=2.15 [95% CI: 1.46-3.17]; P=0.00006) in the combined sample set. Our data raise the possibility that genetic variations in APBB2 may affect LOAD susceptibility... - Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzymePetra 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... - Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset ADAmanda 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... - DAPK1 variants are associated with Alzheimer's disease and allele-specific expressionYonghong Li
Celera Diagnostics, Alameda, CA 94502, USA
Hum Mol Genet 15:2560-8. 2006..015 to <0.0001). These data suggest that genetic variation in DAPK1 modulates susceptibility to LOAD... - Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variantsAndrew Grupe
Celera Diagnostics, 1401 Harbor Bay Parkway, Alameda, CA 94502, USA
Hum Mol Genet 16:865-73. 2007..This is a missense mutation in the galanin-like peptide precursor gene (P = 0.00005, OR = 1.2, false positive rate = 0.87)... - Full genome screen for Alzheimer disease: stage II analysisAmanda 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)... - New generation pharmacogenomic tools: a SNP linkage disequilibrium Map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studiesFrancisco M De La Vega
Applied Biosystems, Foster City, CA 94404, USA
Biotechniques . 2002..We provide the new SNP map and validation information, validated SNP assays and reagents, and instrumentation systems as a novel resource for genetic discoveries... - Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's diseaseScott 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... - Association of ABCA1 with late-onset Alzheimer's disease is not observed in a case-control studyYonghong Li
Celera Diagnostics, Alameda, CA, USA
Neurosci Lett 366:268-71. 2004..Further, we did not observe significant and replicated association of other ABCA1 SNPs we examined with the disease, thus these ABCA1 variants do not appear to influence the risk of LOAD in this study... - Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's diseaseLynnette J Cook
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY, UK
Neurosci Lett 358:142-6. 2004..70, 95% confidence interval=0.52-0.95, P=0.019). These data suggest that this variant warrants further examination in large case-control series... - A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer diseaseAndrew Grupe
Celera Diagnostics, Alameda, CA, USA
Am J Hum Genet 78:78-88. 2006..0165). These results indicate that variants in the RPS3A homologue are associated with LOAD and implicate this gene, adjacent genes, or other functional variants (e.g., noncoding RNAs) in the pathogenesis of this disorder... - Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's diseaseGillian Hamilton
MRC Centre for Neurodegeneration Research, Department of Neuroscience, Institute of Psychiatry, Kings College London, Denmark Hill, London SE5 8AF, UK
Neurosci Lett 401:77-80. 2006..Our results suggest that it is unlikely that genetic variation within the PTEN gene contributes to risk of LOAD... - Premorbid personality and behavioral and psychological symptoms in probable Alzheimer diseaseNicola Archer
King s College London, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London, UK
Am J Geriatr Psychiatry 15:202-13. 2007.... - Alzheimer's disease and vascular dementia in developing countries: prevalence, management, and risk factorsRaj N Kalaria
Institute for Ageing and Health, Newcastle General Hospital, Newcastle upon Tyne, UK
Lancet Neurol 7:812-26. 2008..Dementia costs in developing countries are estimated to be US$73 billion yearly, but care demands social protection, which seems scarce in these regions...