![Valentina Escott-Price](https://profiles-cardiff.imgix.net/attachments/681?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Professor Valentina Escott-Price
Professor, Dementia Research Institute
- EscottPriceV@cardiff.ac.uk
- +44 29206 88429
- Hadyn Ellis Building, Room 1.03 - Office D, Maindy Road, Cardiff, CF24 4HQ
Overview
There is a need to integrate increasingly large amounts of data from increasingly diverse sources where the genetic effects are often so small that there is an insurmountable signal to noise problem with individual tests caused by hidden population admixture and small genotyping error rates. It is therefore important to develop methods which include the identification of weak signals in disease genes and convergent biological pathways and systems on a very noisy background and to develop approaches to combining the effects of multiple genetic loci taking into account the random correlation structure. We develop and apply alternative new solutions to the problems posed by genome-wide analyses to identify novel genes.
In collaboration with the School of Mathematics and department of Computer Science of Cardiff University, we expand this research further in the bioinformatics area, working on the methodology of genetic interactions analyses and on the application of machine learning techniques to genetic data.
Other responsibilities
- Director of Postgraduate Research in the MRC Centre for Neuro-Psychiatric Genetics and Genomics
Publication
2024
- Leonenko, G. et al. 2024. Dementias Platform UK: Bringing genetics into life. Alzheimer's & Dementia: The Journal of the Alzheimer's Association
- Legge, S. et al. 2024. An assessment of the genetic and phenotypic features of Schizophrenia in the UK biobank. JAMA Psychiatry
- Martin Flores, N. et al. 2024. Downregulation of Dickkopf-3, a Wnt antagonist elevated in Alzheimer’s disease, restores synapse integrity and memory in a disease mouse model. eLife 12, article number: RP89453. (10.7554/elife.89453)
2023
- Steventon, J. J. et al. 2023. Menopause age, reproductive span and hormone therapy duration predict the volume of medial temporal lobe brain structures in postmenopausal women. Psychoneuroendocrinology 158, article number: 106393. (10.1016/j.psyneuen.2023.106393)
- Lancaster, T. et al. 2023. Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer’s polygenic risk reveals autobiographical deficits and cingulate cortex correlates. Alzheimer's Research and Therapy 15, article number: 213. (10.1186/s13195-023-01362-y)
- Caseras, X., Legge, S., Bracher-Smith, M., Anney, R., Owen, M., Escott-Price, V. and Kirov, G. 2023. Copy Number Variants increasing risk for schizophrenia: shared and distinct effects on brain morphometry and cognitive performance. Biological Psychiatry: Global Open Science 3(4), pp. 902-911. (10.1016/j.bpsgos.2022.10.006)
- Escott-Price, V. and Schmidt, K. M. 2023. Pitfalls of predicting age related traits by polygenic risk scores. Annals of Human Genetics 87(5), pp. 203-209. (10.1111/ahg.12520)
- Harrison, J. R. et al. 2023. Pathway-specific polygenic scores for Alzheimer's disease are associated with changes in brain structure in younger and older adults. Brain Communications 5(5), article number: fcad229. (10.1093/braincomms/fcad229)
- Le Guen, Y. et al. 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120(36), article number: e2302720120. (10.1073/pnas.2302720120)
- Stevenson-Hoare, J., Schalkamp, A., Sandor, C., Hardy, J. and Escott-Price, V. 2023. New cases of dementia are rising in elderly populations in Wales, UK. Journal of the Neurological Sciences 451, article number: 120715. (10.1016/j.jns.2023.120715)
- Veteleanu, A. et al. 2023. Alzheimer’s disease-associated complement gene variants influence plasma complement protein levels. Journal of Neuroinflammation 20(1), article number: 169. (10.1186/s12974-023-02850-6)
- Allardyce, J. et al. 2023. Specificity of polygenic signatures across symptom dimensions in bipolar disorder: an analysis of UK Bipolar Disorder Research Network data. The Lancet Psychiatry 10(8), pp. 623-631. (10.1016/S2215-0366(23)00186-4)
- Wills, C. et al. 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes Chromosomes and Cancer 62(6), pp. 332-341. (10.1002/gcc.23133)
- Wills, C. et al. 2023. Relationship between 233 colorectal cancer risk loci and survival in 1,926 patients with advanced disease. BJC Reports 1, article number: 2. (10.1038/s44276-023-00003-z)
- Wren, G. et al. 2023. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics 60, pp. 636-643. (10.1136/jmg-2022-108862)
- Donnelly, N. et al. 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14(1), article number: 19. (10.1186/s13229-023-00549-2)
- Stevenson-Hoare, J., Leonenko, G. and Escott-Price, V. 2023. Comparison of long-term effects of metformin on longevity between people with type 2 diabetes and matched non-diabetic controls. BMC Public Health 23, article number: 804. (10.1186/s12889-023-15764-y)
- Simmonds, E. et al. 2023. What does heritability of Alzheimer’s disease represent?. PLoS ONE 18(4), article number: e0281440. (10.1371/journal.pone.0281440)
- Stephens, A. et al. 2023. Developing and validating a prediction model of adolescent major depressive disorder in the offspring of depressed parents. Journal of Child Psychology and Psychiatry 64(3), pp. 367-375. (10.1111/jcpp.13704)
- Graham, N. S. N. et al. 2023. ADVANCE-TBI study protocol: traumatic brain injury outcomes in UK military personnel serving in Afghanistan between 2003 and 2014 – a longitudinal cohort study. BMJ Open 13, article number: e069243. (10.1136/bmjopen-2022-069243)
- Stevenson-Hoare, J. et al. 2023. Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease. Brain 146(2), pp. 690-699. (10.1093/brain/awac128)
- Zhao, Y., Vavouraki, N., Lovering, R., Escott-Price, V., Harvey, K., Lewis, P. and Manzoni, C. 2023. Tissue specific LRRK2 interactomes reveal a distinct striatal functional unit. PLoS Computational Biology 19(1), article number: e1010847. (10.1371/journal.pcbi.1010847)
- Petrican, R., Paine, A. L., Escott-Price, V. and Shelton, K. H. 2023. Overlapping brain correlates of superior cognition among children at genetic risk for Alzheimer’s disease and/or major depressive disorder. Scientific Reports 13(1), pp. 984. (10.1038/s41598-023-28057-6)
- Bellou, E. and Escott-Price, V. 2023. Are Alzheimer's and coronary artery diseases genetically related to longevity?. Frontiers in Psychiatry 13 (10.3389/fpsyt.2022.1102347)
2022
- Crawford, K. et al. 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry (10.1038/s41380-022-01926-8)
- Stevenson-Hoare, J. O. et al. 2022. Blood plasma biomarkers improve prediction accuracy over and above genetic predictors of Alzheimer's disease [Abstract]. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 18(S6), article number: e064192. (10.1002/alz.064192)
- Bracher-Smith, M. et al. 2022. Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer’s disease pathogenesis. Neurobiology of Aging 119, pp. 67-76. (10.1016/j.neurobiolaging.2022.07.009)
- Mirza-Davies, A. et al. 2022. The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults. Frontiers in Neuroscience 16, article number: 987677. (10.3389/fnins.2022.987677)
- Hardy, J., de Strooper, B. and Escott-Price, V. 2022. Alzheimer’s disease and type 2 diabetes: shared genetic susceptibility?. The Lancet Neurology 21(11), pp. 962-964. (10.1016/S1474-4422(22)00395-7)
- Watts, K. et al. 2022. Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome. International Journal of Cancer 151(6), pp. 957-966. (10.1002/ijc.34046)
- Bracher-Smith, M. et al. 2022. Machine learning for prediction of schizophrenia using genetic and demographic factors in the UK Biobank. Schizophrenia Research 246, pp. 156-164. (10.1016/j.schres.2022.06.006)
- Hou, J. et al. 2022. Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease. Translational Psychiatry 12(1), article number: 296. (10.1038/s41398-022-02055-0)
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Martin-Flores, N., Podpolny, M., McLeod, F., Crawford, K., Ivanov, D., Escott-Price, V. and Salinas, P. 2022. Restoring synapse integrity and memory in Alzheimer’s disease by downregulation of the Wnt antagonist Dickkopf-3. [Online]. bioRxiv: bioRxiv. (10.1101/2022.06.16.495307) Available at: https://www.biorxiv.org/content/10.1101/2022.06.16.495307v1
- Chambers, T. et al. 2022. Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank. Molecular Psychiatry 27, pp. 2282-2290. (10.1038/s41380-022-01443-8)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- Trubetskoy, V. et al. 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604, pp. 502-508. (10.1038/s41586-022-04434-5)
- Karlsson, I. K., Escott-Price, V., Gatz, M., Hardy, J., Pedersen, N. L., Shoai, M. and Reynolds, C. A. 2022. Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications 4(1), article number: fcab308. (10.1093/braincomms/fcab308)
- Escott-Price, V. and Hardy, J. 2022. Genome-wide association studies for Alzheimer’s disease: bigger is not always better. Brain Communications 4(3), article number: fcac125. (10.1093/braincomms/fcac125)
- Wagen, A. Z. et al. 2022. Life course, genetic, and neuropathological associations with brain age in the 1946 British Birth Cohort: a population-based study. The Lancet Healthy Longevity 3(9), pp. e607-e616. (10.1016/S2666-7568(22)00167-2)
2021
- Di Florio, A. et al. 2021. Post-partum psychosis and its association with bipolar disorder in the UK: a case-control study using polygenic risk scores. The Lancet Psychiatry 8(12), pp. 1045-1052. (10.1016/S2215-0366(21)00253-4)
- Wills, C. et al. 2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159, pp. 247-258. (10.1016/j.ejca.2021.09.047)
- Magusali, N. et al. 2021. A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Brain 144(12), pp. 3727–3741. (10.1093/brain/awab337)
- Watts, K. et al. 2021. Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer. International Journal of Cancer 149(9), pp. 1713-1722. (10.1002/ijc.33739)
- Escott-Price, V. and Schmidt, K. M. 2021. Correction to: Probability of Alzheimer's disease based on common and rare genetic variants. Alzheimer's Research and Therapy 13(1), article number: 156. (10.1186/s13195-021-00898-1)
- Escott-Price, V. and Schmidt, K. M. 2021. Probability of Alzheimer’s disease based on common and rare genetic variants. Alzheimer's Research & Therapy 13, article number: 140. (10.1186/s13195-021-00884-7)
- Legge, S. et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions, and cognitive ability in schizophrenia. JAMA Psychiatry 78(10), pp. 1143-1151. (10.1001/jamapsychiatry.2021.1961)
- Leonenko, G. et al. 2021. Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores. Nature Communications 12, article number: 4506.
- Amare, A. T. et al. 2021. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry 26, pp. 2457-2470. (10.1038/s41380-020-0689-5)
- Mullins, N. et al. 2021. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics 53, pp. 817-829. (10.1038/s41588-021-00857-4)
- de Rojas, I. et al. 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12(1), article number: 3417. (10.1038/s41467-021-22491-8)
- Harwood, J., Leonenko, G., Sims, R., Escott-Price, V., Williams, J. and Holmans, P. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3(2), article number: fcab083. (10.1093/braincomms/fcab083)
- Chen, Z. et al. 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12(1), article number: 2076. (10.1038/s41467-021-22262-5)
- Escott-Price, V. and Schmidt, K. M. 2021. Challenges of adjusting Single-Nucleotide Polymorphism effect sizes for linkage disequilibrium. Human Heredity 85(1), pp. 24-34. (10.1159/000513303)
- Dennison, C. A. et al. 2021. Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank. PLoS ONE 16(3), article number: e0249189. (10.1371/journal.pone.0249189)
- Caseras, X. et al. 2021. Effects of genomic copy number variants penetrant for schizophrenia on cortical thickness and surface area in healthy individuals: analysis of the UK Biobank. British Journal of Psychiatry 218(2), pp. 104-111. (10.1192/bjp.2020.139)
- Bracher-Smith, M., Crawford, K. and Escott-Price, V. 2021. Machine learning for genetic prediction of psychiatric disorders: a systematic review. Molecular Psychiatry 26, pp. 70-79. (10.1038/s41380-020-0825-2)
- Vergallo, A. et al. 2021. MiRNA-15b and miRNA-125b are associated with regional Aβ-PET and FDG-PET uptake in cognitively normal individuals with subjective memory complaints. Translational Psychiatry 11(1), article number: 78. (10.1038/s41398-020-01184-8)
- Lubbe, S. J. et al. 2021. Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk. Human Molecular Genetics 30(1), pp. 78-86. (10.1093/hmg/ddaa273)
- Katzourou, I. et al. 2021. Cognitive decline in Alzheimer’s disease is not associated with APOE. Journal of Alzheimer's Disease 84(1), pp. 141-149. (10.3233/jad-210685)
- Rowe, T., Katzourou, I., Stevenson-Hoare, J., Bracher-Smith, M., Ivanov, D. and Escott-Price, V. 2021. Machine learning for the life-time risk prediction of Alzheimer’s disease: a systematic review. Brain Communications 3(4), article number: fcab246. (10.1093/braincomms/fcab246)
2020
- Costa, B. et al. 2020. C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology 95(24), pp. e3288-e3302. (10.1212/WNL.0000000000010914)
- Ward, J. et al. 2020. The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function. Molecular Psychiatry 25, pp. 3091-3099. (10.1038/s41380-019-0439-8)
- Ivanov, D., Bostelmann, G., Lan-Leung, B., Williams, J., Partridge, L., Escott-Price, V. and Thornton, J. 2020. A novel computational approach for predicting complex phenotypes in Drosophila (starvation-sensitive and sterile) by deriving their gene expression signatures from public data. PLoS ONE 15(10), article number: e0240824. (10.1371/journal.pone.0240824)
- Sierksma, A., Escott-Price, V. and De Strooper, B. 2020. Translating genetic risk of Alzheimer’s disease into mechanistic insight and drug targets. Science 370(6512), pp. 61-66. (10.1126/science.abb8575)
- Bellou, E. et al. 2020. Age-dependent effect of APOE and polygenic component on Alzheimer's disease. Neurobiology of Aging 93, pp. 69-77., article number: Neurobiology of Aging Volume 93, September 2020, Pages 69-77. (10.1016/j.neurobiolaging.2020.04.024)
- Cooksey, R., Kennedy, J., Dennis, M., Escott-Price, V., Lyons, R. and Seaborne, M. 2020. Proton pump inhibitors and dementia risk: evidence from a cohort study using linked routinely collected national health data in Wales, UK.. PLoS ONE 15(9), article number: e0237676. (10.1371/journal.pone.0237676)
- Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10, article number: 309. (10.1038/s41398-020-00940-0)
- Bellou, E., Stevenson-Hoare, J. and Escott-Price, V. 2020. Polygenic risk and pleiotropy in neurodegenerative diseases. Neurobiology of Disease 142, article number: 104953. (10.1016/j.nbd.2020.104953)
- Baker, E. and Escott-Price, V. 2020. Polygenic risk scores in Alzheimer’s disease: current applications and future directions. Frontiers in Digital Health: Personalized Medicine 2(14) (10.3389/fdgth.2020.00014)
- Coleman, J. R. I. et al. 2020. Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. Molecular Psychiatry 25, pp. 1430-1446. (10.1038/s41380-019-0546-6)
- Akingbuwa, W. A. et al. 2020. Genetic associations between childhood psychopathology and adult depression and associated traits in 42 998 individuals. JAMA Psychiatry 77(7), pp. 715-728. (10.1001/jamapsychiatry.2020.0527)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- Lewis, K. J. et al. 2020. Comparison of genetic liability for sleep traits among individuals with Bipolar Disorder I or II and control participants. JAMA Psychiatry 77(3), pp. 303-310. (10.1001/jamapsychiatry.2019.4079)
- Harrison, J. R., Mistry, S., Muskett, N. and Escott-Price, V. 2020. From polygenic scores to precision medicine in Alzheimer’s Disease: A systematic review. Journal of Alzheimer's Disease 74(4), pp. 1271-1283. (10.3233/JAD-191233)
- Glanville, K. P. et al. 2020. Classical human leukocyte antigen alleles and C4 haplotypes are not significantly associated with depression. Biological Psychiatry 87(5), pp. 419-430. (10.1016/j.biopsych.2019.06.031)
- Rees, E. et al. 2020. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nature Neuroscience 23(2), pp. 179-184. (10.1038/s41593-019-0565-2)
- Orme, T. et al. 2020. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications 8(1), article number: 5. (10.1186/s40478-020-0879-z)
- Summers, M. G., Maughan, T. S., Kaplan, R., Law, P. J., Houlston, R. S., Escott-Price, V. and Cheadle, J. P. 2020. Comprehensive analysis of colorectal cancer-risk loci and survival outcome: a prognostic role for CDH1 variants.. European Journal Of Cancer 124, pp. 56-63. (10.1016/j.ejca.2019.09.024)
- Hall, L. S. et al. 2020. A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. Human Molecular Genetics 29(1), pp. 159-167. (10.1093/hmg/ddz253)
2019
- Legge, S. E. et al. 2019. Association of genetic liability to psychotic experiences with neuropsychotic disorders and traits. JAMA Psychiatry 76(12), pp. 1256-1265. (10.1001/jamapsychiatry.2019.2508)
- Mistry, S., Escott-Price, V., Di Florio, A., Smith, D. and Zammit, S. 2019. Investigating associations between genetic risk for bipolar disorder and cognitive functioning in childhood. Journal of Affective Disorders 259, pp. 112-120. (10.1016/j.jad.2019.08.040)
- Escott-Price, V. et al. 2019. Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort. Psychological Medicine 49(15), pp. 2499-2504. (10.1017/S0033291718000454)
- Hardy, J. and Escott-Price, V. 2019. Genes, pathways and risk prediction in Alzheimer's disease. Human Molecular Genetics 28(R2), pp. R235-R240. (10.1093/hmg/ddz163)
- Salih, D. A. et al. 2019. Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 1(1), pp. -., article number: fcz022. (10.1093/braincomms/fcz022)
- Leonenko, G. et al. 2019. Genetic risk for Alzheimer's disease is distinct from genetic risk for amyloid deposition. Annals of Neurology 86(3), pp. 427-435. (10.1002/ana.25530)
- Gray, V. et al. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute 111(8), pp. 828-836. (10.1093/jnci/djy215)
- Escott-Price, V., Pardinas, A. F., Santiago, E., Walters, J., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2019. The relationship between common variant schizophrenia liability and number of offspring in the UK Biobank. American Journal of Psychiatry 176(8), pp. 661-666. (10.1176/appi.ajp.2018.18020140)
- Baker, E. et al. 2019. Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease. PLoS ONE 14(7), article number: e0218111. (10.1371/journal.pone.0218111)
- Guerreiro, R. et al. 2019. Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease 127, pp. 492-501. (10.1016/j.nbd.2019.04.004)
- Czamara, D. et al. 2019. Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. Nature Communications 10, article number: 2548. (10.1038/s41467-019-10461-0)
- Stahl, E. A. et al. 2019. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics 51, pp. 793-803. (10.1038/s41588-019-0397-8)
- Escott-Price, V., Baker, E., Shoai, M., Leonenko, G., Myers, A. J., Huentelman, M. and Hardy, J. 2019. Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls. Neurobiology of Aging 77, pp. 178-182. (10.1016/j.neurobiolaging.2018.12.002)
- Kendall, K. M. et al. 2019. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. British Journal of Psychiatry 214(5), pp. 297-304. (10.1192/bjp.2018.301)
- Rees, E. et al. 2019. Targeted sequencing of 10,198 samples confirms abnormalities in neuronal activity and implicates voltage-gated sodium channels in schizophrenia pathogenesis. Biological Psychiatry 85(7), pp. 554-562. (10.1016/j.biopsych.2018.08.022)
- Kunkle, B. W. et al. 2019. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics 51(3), pp. 414-430. (10.1038/s41588-019-0358-2)
- Leonenko, G. et al. 2019. Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical and Translational Neurology 6(3), pp. 456-465. (10.1002/acn3.716)
- Kun-Rodrigues, C. et al. 2019. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging 75 (10.1016/j.neurobiolaging.2018.10.019)
- Mistry, S., Escott-Price, V., Di Florio, A., Smith, D. J. and Zammit, S. 2019. Genetic risk for bipolar disorder and psychopathology from childhood to early adulthood. Journal of Affective Disorders 246, pp. 633-639. (10.1016/j.jad.2018.12.091)
- Crawford, K. et al. 2019. Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank. Journal of Medical Genetics 56, pp. 131-138. (10.1136/jmedgenet-2018-105477)
- Escott-Price, V., Bracher-Smith, M., Menzies, G., Walters, J., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2019. Genetic liability to schizophrenia is negatively associated with educational attainment in UK Biobank. Journal of Molecular Psychiatry, pp. -. (10.1038/s41380-018-0328-6)
- Vivian-Griffiths, T. et al. 2019. Predictive modeling of schizophrenia from genomic data: Comparison of polygenic risk score with kernel support vector machines approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180(1), pp. 80-85. (10.1002/ajmg.b.32705)
2018
- Arnau-Soler, A. et al. 2018. Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder. PLoS ONE 13(12), article number: e0209160. (10.1371/journal.pone.0209160)
- Owen, D. et al. 2018. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 19(1), article number: 867. (10.1186/s12864-018-5292-7)
- Strawbridge, R. J. et al. 2018. Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression. Translational Psychiatry 8(1), article number: 178. (10.1038/s41398-018-0236-1)
- Ahmad, S. et al. 2018. Disentangling the biological pathways involved in early features of Alzheimer's disease in the Rotterdam Study. Alzheimer's and Dementia 14(7), pp. 848-857. (10.1016/j.jalz.2018.01.005)
- Mistry, S., Harrison, J., Smith, D. J., Escott-Price, V. and Zammit, S. 2018. The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: systematic review. Schizophrenia Research 197, pp. 2-8. (10.1016/j.schres.2017.10.037)
- Mistry, S., Harrison, J. R., Smith, D. J., Escott-Price, V. and Zammit, S. 2018. The use of polygenic risk scores to identify phenotypes associated with genetic risk of bipolar disorder and depression: A systematic review. Journal of Affective Disorders 234, pp. 148-155. (10.1016/j.jad.2018.02.005)
- Baker, E., Schmidt, K. M., Sims, R., O'Donovan, M. C., Williams, J., Holmans, P. and Escott-Price, V. 2018. POLARIS: polygenic LD-adjusted risk score approach for set-based analysis of GWAS data. Genetic Epidemiology 42(4), pp. 366-377. (10.1002/gepi.22117)
- Anttila, V. et al. 2018. Analysis of shared heritability in common disorders of the brain. Science 360(6395), article number: eaap8757. (10.1126/science.aap8757)
- Ruderfer, D. M. et al. 2018. Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes. Cell 173(7), pp. 1705-1715.e16. (10.1016/j.cell.2018.05.046)
- Leonenko, G. et al. 2018. A data-driven investigation of relationships between bipolar psychotic symptoms and schizophrenia genome-wide significant genetic loci. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177(4), pp. 468-475. (10.1002/ajmg.b.32635)
- Wray, N. R. et al. 2018. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics 50(5), pp. 668-681. (10.1038/s41588-018-0090-3)
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2015
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2014
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2013
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2012
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2011
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2010
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2009
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2008
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2007
- Glaser, B., Nikolov, I., Chubb, D., Hamshere, M. L., Segurado, R., Escott-Price, V. and Holmans, P. A. 2007. Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests [Conference Proceedings]. BMC Proceedings 1(S1), pp. S54-S54.
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- Escott-Price, V. et al. 2007. Interrelationship of childhood trauma, neuroticism, and depressive phenotype. Depression and Anxiety 24(3), pp. 163-168. (10.1002/da.20216)
2006
- Harold, D. et al. 2006. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Molecular Psychiatry 11(12), pp. 1085-91. (10.1038/sj.mp.4001904)
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- Escott-Price, V., Broadley, A., Korszun, A., Abdelaal, E., Deanfield, J. and Frenneaux, M. 2006. Metyrapone improves endothelial dysfunction in patients with treated depression. Journal of the American College of Cardiology 48(1), pp. 170-175.
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- Escott-Price, V., Craddock, N. J., Holmans, P. A., Owen, M. J. and O'Donovan, M. C. 2006. Effects of differential genotyping error rate on the Type 1 error probability of case-control studies. Human heredity 61(1), pp. 55-64. (10.1159/000092553)
- Kirov, G., Nikolov, I., Georgieva, L., Escott-Price, V., Owen, M. J. and O'Donovan, M. C. 2006. Pooled DNA genotyping on Affymetrix SNP genotyping arrays. BMC Genomics 7(1), pp. 27-37. (10.1186/1471-2164-7-27)
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- Escott-Price, V. and Schmidt, K. M. 2006. Individual SNP Allele Reconstruction from Informative Markers Selected by a Non-Linear Gauss-Type Algorithm. Human Heredity 62(2), pp. 97-106. (10.1159/000096097)
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2005
- Hamshere, M. L., MacGregor, S., Escott-Price, V., Nikolov, I. N. and Holmans, P. A. 2005. Covariate linkage analysis of GAW14 simulated data incorporating subclinical phenotype, sex, population, parent-of-origin, and interaction. BMC Genetics 6(1), pp. S45. (10.1186/1471-2156-6-S1-S45)
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- Turic, D. et al. 2005. A family based study implicates solute carrier family 1-member 3 (SLC1A3) gene in attention-deficit/hyperactivity disorder. Biological psychiatry 57(11), pp. 1461-1466. (10.1016/j.biopsych.2005.03.025)
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- Escott-Price, V., Norton, N., Williams, N. M., Holmans, P. A., Owen, M. J. and O'Donovan, M. C. 2005. Streamlined analysis of pooled genotype data in SNP-based association studies. Genetic Epidemiology 28(3), pp. 273-282. (10.1002/gepi.20062)
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2004
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2003
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Articles
- Leonenko, G. et al. 2024. Dementias Platform UK: Bringing genetics into life. Alzheimer's & Dementia: The Journal of the Alzheimer's Association
- Legge, S. et al. 2024. An assessment of the genetic and phenotypic features of Schizophrenia in the UK biobank. JAMA Psychiatry
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- Stevenson-Hoare, J., Schalkamp, A., Sandor, C., Hardy, J. and Escott-Price, V. 2023. New cases of dementia are rising in elderly populations in Wales, UK. Journal of the Neurological Sciences 451, article number: 120715. (10.1016/j.jns.2023.120715)
- Veteleanu, A. et al. 2023. Alzheimer’s disease-associated complement gene variants influence plasma complement protein levels. Journal of Neuroinflammation 20(1), article number: 169. (10.1186/s12974-023-02850-6)
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- Stevenson-Hoare, J., Leonenko, G. and Escott-Price, V. 2023. Comparison of long-term effects of metformin on longevity between people with type 2 diabetes and matched non-diabetic controls. BMC Public Health 23, article number: 804. (10.1186/s12889-023-15764-y)
- Simmonds, E. et al. 2023. What does heritability of Alzheimer’s disease represent?. PLoS ONE 18(4), article number: e0281440. (10.1371/journal.pone.0281440)
- Stephens, A. et al. 2023. Developing and validating a prediction model of adolescent major depressive disorder in the offspring of depressed parents. Journal of Child Psychology and Psychiatry 64(3), pp. 367-375. (10.1111/jcpp.13704)
- Graham, N. S. N. et al. 2023. ADVANCE-TBI study protocol: traumatic brain injury outcomes in UK military personnel serving in Afghanistan between 2003 and 2014 – a longitudinal cohort study. BMJ Open 13, article number: e069243. (10.1136/bmjopen-2022-069243)
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- Zhao, Y., Vavouraki, N., Lovering, R., Escott-Price, V., Harvey, K., Lewis, P. and Manzoni, C. 2023. Tissue specific LRRK2 interactomes reveal a distinct striatal functional unit. PLoS Computational Biology 19(1), article number: e1010847. (10.1371/journal.pcbi.1010847)
- Petrican, R., Paine, A. L., Escott-Price, V. and Shelton, K. H. 2023. Overlapping brain correlates of superior cognition among children at genetic risk for Alzheimer’s disease and/or major depressive disorder. Scientific Reports 13(1), pp. 984. (10.1038/s41598-023-28057-6)
- Bellou, E. and Escott-Price, V. 2023. Are Alzheimer's and coronary artery diseases genetically related to longevity?. Frontiers in Psychiatry 13 (10.3389/fpsyt.2022.1102347)
- Crawford, K. et al. 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry (10.1038/s41380-022-01926-8)
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- Hardy, J., de Strooper, B. and Escott-Price, V. 2022. Alzheimer’s disease and type 2 diabetes: shared genetic susceptibility?. The Lancet Neurology 21(11), pp. 962-964. (10.1016/S1474-4422(22)00395-7)
- Watts, K. et al. 2022. Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome. International Journal of Cancer 151(6), pp. 957-966. (10.1002/ijc.34046)
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- Karlsson, I. K., Escott-Price, V., Gatz, M., Hardy, J., Pedersen, N. L., Shoai, M. and Reynolds, C. A. 2022. Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications 4(1), article number: fcab308. (10.1093/braincomms/fcab308)
- Escott-Price, V. and Hardy, J. 2022. Genome-wide association studies for Alzheimer’s disease: bigger is not always better. Brain Communications 4(3), article number: fcac125. (10.1093/braincomms/fcac125)
- Wagen, A. Z. et al. 2022. Life course, genetic, and neuropathological associations with brain age in the 1946 British Birth Cohort: a population-based study. The Lancet Healthy Longevity 3(9), pp. e607-e616. (10.1016/S2666-7568(22)00167-2)
- Di Florio, A. et al. 2021. Post-partum psychosis and its association with bipolar disorder in the UK: a case-control study using polygenic risk scores. The Lancet Psychiatry 8(12), pp. 1045-1052. (10.1016/S2215-0366(21)00253-4)
- Wills, C. et al. 2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159, pp. 247-258. (10.1016/j.ejca.2021.09.047)
- Magusali, N. et al. 2021. A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Brain 144(12), pp. 3727–3741. (10.1093/brain/awab337)
- Watts, K. et al. 2021. Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer. International Journal of Cancer 149(9), pp. 1713-1722. (10.1002/ijc.33739)
- Escott-Price, V. and Schmidt, K. M. 2021. Correction to: Probability of Alzheimer's disease based on common and rare genetic variants. Alzheimer's Research and Therapy 13(1), article number: 156. (10.1186/s13195-021-00898-1)
- Escott-Price, V. and Schmidt, K. M. 2021. Probability of Alzheimer’s disease based on common and rare genetic variants. Alzheimer's Research & Therapy 13, article number: 140. (10.1186/s13195-021-00884-7)
- Legge, S. et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions, and cognitive ability in schizophrenia. JAMA Psychiatry 78(10), pp. 1143-1151. (10.1001/jamapsychiatry.2021.1961)
- Leonenko, G. et al. 2021. Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores. Nature Communications 12, article number: 4506.
- Amare, A. T. et al. 2021. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry 26, pp. 2457-2470. (10.1038/s41380-020-0689-5)
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- Harwood, J., Leonenko, G., Sims, R., Escott-Price, V., Williams, J. and Holmans, P. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3(2), article number: fcab083. (10.1093/braincomms/fcab083)
- Chen, Z. et al. 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12(1), article number: 2076. (10.1038/s41467-021-22262-5)
- Escott-Price, V. and Schmidt, K. M. 2021. Challenges of adjusting Single-Nucleotide Polymorphism effect sizes for linkage disequilibrium. Human Heredity 85(1), pp. 24-34. (10.1159/000513303)
- Dennison, C. A. et al. 2021. Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank. PLoS ONE 16(3), article number: e0249189. (10.1371/journal.pone.0249189)
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- Vergallo, A. et al. 2021. MiRNA-15b and miRNA-125b are associated with regional Aβ-PET and FDG-PET uptake in cognitively normal individuals with subjective memory complaints. Translational Psychiatry 11(1), article number: 78. (10.1038/s41398-020-01184-8)
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- Escott-Price, V., Broadley, A., Korszun, A., Abdelaal, E., Deanfield, J. and Frenneaux, M. 2006. Metyrapone improves endothelial dysfunction in patients with treated depression. Journal of the American College of Cardiology 48(1), pp. 170-175.
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- Kirov, G., Nikolov, I., Georgieva, L., Escott-Price, V., Owen, M. J. and O'Donovan, M. C. 2006. Pooled DNA genotyping on Affymetrix SNP genotyping arrays. BMC Genomics 7(1), pp. 27-37. (10.1186/1471-2164-7-27)
- Escott-Price, V. and Schmidt, K. M. 2006. Susceptibility of Biallelic Haplotype and Genotype Frequencies to Genotyping Error. Biometrics 62(4), pp. 1116-1123. (10.1111/j.1541-0420.2006.00563.x)
- Escott-Price, V. and Schmidt, K. M. 2006. Individual SNP Allele Reconstruction from Informative Markers Selected by a Non-Linear Gauss-Type Algorithm. Human Heredity 62(2), pp. 97-106. (10.1159/000096097)
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- Hamshere, M. L., MacGregor, S., Escott-Price, V., Nikolov, I. N. and Holmans, P. A. 2005. Covariate linkage analysis of GAW14 simulated data incorporating subclinical phenotype, sex, population, parent-of-origin, and interaction. BMC Genetics 6(1), pp. S45. (10.1186/1471-2156-6-S1-S45)
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- Broadley, A. J., Frenneaux, M. P., Escott-Price, V., Jones, C. J. and Korszun, A. 2005. Baroreflex sensitivity is reduced in depression. Psychosomatic Medicine 67(4), pp. 648-651.
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- Kirov, G., Tredget, J., Dunn, E., Escott-Price, V., Beer, R. and Khalid, N. 2005. Underpowered repetitive transcranial magnetic stimulation might not be an effective antidepressant treatment. Journal of Clinical Psychiatry 66(4), pp. 543.
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- Bray, N. J., Jehu, L., Escott-Price, V., Buckland, P. R., Owen, M. J., Williams, J. and O'Donovan, M. C. 2004. P4-101 Allelic expression of APOE in brain [Conference Abstract]. Neurobiology of Aging 25, pp. S503-S503. (10.1016/S0197-4580(04)81659-2)
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Websites
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Martin-Flores, N., Podpolny, M., McLeod, F., Crawford, K., Ivanov, D., Escott-Price, V. and Salinas, P. 2022. Restoring synapse integrity and memory in Alzheimer’s disease by downregulation of the Wnt antagonist Dickkopf-3. [Online]. bioRxiv: bioRxiv. (10.1101/2022.06.16.495307) Available at: https://www.biorxiv.org/content/10.1101/2022.06.16.495307v1
- Allardyce, J. et al. 2017. Psychosis and the level of mood incongruence in Bipolar Disorder are related to genetic liability for Schizophrenia. [Online]. bioRxiv. Available at: http://dx.doi.org/10.1101/160119
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. [Online]. bioRxiv. (10.1101/068593) Available at: http://dx.doi.org/10.1101/068593
Research
My main research interest is to deploy the new opportunities afforded by technological advances and large sample sizes in order to contribute to identification of new risk genes and biological pathways for psychiatric and other disorders, and to undertake integrative analyses to provide additional biological meaning to the basic genetic data. As a member of several international consortia, we analyse terabytes of genome/exome/sequencing data for cohorts of tens of thousands of individuals from different populations.
Being a member International Genomics of Alzheimer's Project (IGAP) consortium, we processed and analysed genome-wide data which resulted in the discovery of 11 new susceptibility loci for Alzheimer's disease. Further analysis of this data, with the approximate gene-based analysis, which we developed in 2011 in Cardiff, lead to the discovery of two additional Alzheimer's disease susceptibility genes.
My most recent research is focused around evaluation of genetic risk associated with different aspects of psychiatric and neurological diseases. In our recent work we have investigated the polygenic architecture of Alzheimer's and Parkinson’s diseases and have also explored the potential relationship between an individual’s polygenic risk score and the risk of the disease.
Teaching
MSc in Biostatistics and Bioinformatics: “Genetic Epidemiology: Association Studies” Module Leader.
Biography
- MSc in Mathematics (1991) Department of Mathematics and Mechanics, St.Petersburg University, Russia.
- PhD in Statistics (2001), School of Mathematics, Cardiff University, UK.
- Research Assistant, School of Mathematics, Cardiff University (1998-2002).
- Research Assistant, Department of Psychological Medicine, School of Medicine, Cardiff University (2002-2003).
- Lecturer in Biostatistics and Genetic Epidemiology, Bioinformatics and Biostatistics Unit, School of Medicine, Cardiff University (2003-2005).
- RCUK Research Fellow, Bioinformatics and Biostatistics Unit, School of Medicine, Cardiff University (2005-2010).
- Senior Lecturer, MRC Centre for Neuro-Psychiatric Genetics and Genomics, School of Medicine, Cardiff University (2010-2014).
- Reader, MRC Centre for Neuro-Psychiatric Genetics and Genomics, School of Medicine, Cardiff University (2014-2016).
- Since 2016: Professor, MRC Centre for Neuro-Psychiatric Genetics and Genomics, School of Medicine, Cardiff University.