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Outputs (10)

Upregulated expression of FFAR2 and SOC3 genes is associated with gout (2022)
Journal Article
Orji, O. C., López-Domínguez, M. B., Sandoval-Plata, G., Guetta-Baranes, T., Valdes, A. M., Doherty, M., …Abhishek, A. (2023). Upregulated expression of FFAR2 and SOC3 genes is associated with gout. Rheumatology, 62(2), 977-983. https://doi.org/10.1093/rheumatology/keac360

Objective To examine the expression of Free fatty acid receptor 2 (FFAR2) and Suppressor of cytokine signalling 3 (SOCS3) genes in asymptomatic hyperuricaemia (AH), AH with MSU crystal deposition, inter-critical gout and gout flare. Methods Study... Read More about Upregulated expression of FFAR2 and SOC3 genes is associated with gout.

Genetic variants in glutamate-, A??, and tau-related pathways determine polygenic risk for Alzheimer's disease (2020)
Journal Article
Lawingco, T., Chaudhury, S., Brookes, K. J., Guetta-Baranes, T., Guerreiro, R., Bras, J., …Morgan, K. (2021). Genetic variants in glutamate-, Aβ−, and tau-related pathways determine polygenic risk for Alzheimer's disease. Neurobiology of Aging, 101, 299.e13-299.e21. https://doi.org/10.1016/j.neurobiolaging.2020.11.009

© 2020 Elsevier Inc. Synapse loss is an early event in late-onset Alzheimer's disease (LOAD). In this study, we have assessed the capacity of a polygenic risk score (PRS) restricted to synapse-encoding loci to predict LOAD. We used summary statistics... Read More about Genetic variants in glutamate-, A??, and tau-related pathways determine polygenic risk for Alzheimer's disease.

Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk (2019)
Journal Article
Salih, D. A., Bayram, S., Guelfi, S., Reynolds, R. H., Shoai, M., Ryten, M., …Hardy, J. (2019). Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk. Brain Communications, 1(1), Article fcz022. https://doi.org/10.1093/braincomms/fcz022

Genome-wide association studies of late-onset Alzheimer’s disease risk have previously identified genes primarily expressed in microglia that form a transcriptional network. Using transgenic mouse models of amyloid deposition, we previously showed th... Read More about Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk.

Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease (2018)
Journal Article
Chappell, S., Patel, T., Guetta-Baranes, T., Sang, F., Francis, P. T., Morgan, K., & Brookes, K. J. (2018). Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease. BMC Research Notes, 11(1), https://doi.org/10.1186/s13104-018-3732-8

Objectives In order to determine how gene expression is altered in disease it is of fundamental importance that the global distribution of gene expression levels across the disease-free brain are understood and how differences between tissue types... Read More about Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease.

Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort (2018)
Journal Article
Brookes, K. J., McConnell, G., Williams, K., Chaudhury, S. R., Madhan, G., Patel, T., …Morgan, K. (2018). Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort. Journal of Alzheimer's Disease, 64(2), https://doi.org/10.3233/JAD-180191

The Brains for Dementia Research project is a recently established cohort which aims to provide brain tissue for research purposes from neuropathologically defined samples. Here we present the findings from our analysis on the 19 established GWAS in... Read More about Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort.

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease (2018)
Journal Article
Kucukkilic, E., Brookes, K., Barber, I., Guetta-Baranes, T., Morgan, K., & Hollox, E. (in press). Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease. Human Genetics, https://doi.org/10.1007/s00439-018-1883-2

Single nucleotide variants (SNVs) within and surrounding the complement receptor 1 (CR1) gene show some of the strongest genome-wide association signals with late-onset Alzheimer’s disease. Some studies have suggested that this association signal is... Read More about Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease.

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease (2017)
Journal Article
Patel, T., Brookes, K. J., Turton, J., Chaudhury, S., Guetta-Baranes, T., Guerreiro, R., …Morgan, K. (2019). Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease. Neuropathology and Applied Neurobiology, 44(5), 506-521. https://doi.org/10.1111/nan.12452

Aim: Late-onset Alzheimer’s disease (LOAD) accounts for 95% of all Alzheimer’s cases and is genetically complex in nature. Overlapping clinical and neuropathological features between AD, FTD and Parkinson’s disease highlight the potential role of gen... Read More about Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease.

Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease (2017)
Journal Article
Boden, K. A., Barber, I. S., Clement, N., Patel, T., Guetta-Baranes, T., Brookes, K., …Bottley, A. (2017). Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease. Journal of Alzheimer's Disease Reports, 1(1), https://doi.org/10.3233/ADR-170015

A number of genetic loci associate with early onset Alzheimer’s disease (EOAD), however the drivers of this disease remains enigmatic. Genome wide association and in-vivo modelling have shown that loss-of-function e.g. ABCA7, reduced levels of SIRT1,... Read More about Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 (2016)
Journal Article
Jackson, V. E., Ntalla, I., Sayers, I., Morris, R., Whincup, P., Casas, J., …Wain, L. V. (in press). Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12. Thorax, 71(6), https://doi.org/10.1136/thoraxjnl-2015-207876

Background Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants. Objective To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated... Read More about Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma (2014)
Journal Article
Wain, L. V., Odenthal-Hesse, L., Abujaber, R., Sayers, I., Beardsmore, C., Gaillard, E. A., …Hollox, E. J. (2014). Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma. PLoS ONE, 9(1), Article e84192. https://doi.org/10.1371/journal.pone.0084192

Lung function measures are heritable, predict mortality and are relevant in diagnosis of chronic obstructive pulmonary disease (COPD). COPD and asthma are diseases of the airways with major public health impacts and each have a heritable component. G... Read More about Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma.