Research Repository

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The Epistasis Project: a multi-cohort study of the effects of BDNF, DBH and SORT1 epistasis on Alzheimer's disease risk (2019)
Journal Article
Belbin, O., Morgan, K., Medway, C., Warden, D., Cortina-Borja, M., van Duijn, C. M., …Lehmann, D. J. (in press). The Epistasis Project: a multi-cohort study of the effects of BDNF, DBH and SORT1 epistasis on Alzheimer's disease risk. Journal of Alzheimer's Disease,

Pre-synaptic secretion of brain-derived neurotrophic factor (BDNF) from noradrenergic neurons may protect the Alzheimer’s disease (AD) brain from amyloid pathology. While the BDNF polymorphism (rs6265) is associated with faster cognitive decline and... Read More

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, doi:10.1007/s00439-018-1883-2. ISSN 0340-6717

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

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease (2017)
Journal Article
Chaudhary, S., Patel, T., Barber, I. S., Guetta-Baranes, T., Brookes, K., Chappell, S., …Morgan, K. (2018). Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease. Neurobiology of Aging, 62, doi:10.1016/j.neurobiolaging.2017.09.035. ISSN 0197-4580

Sporadic early onset Alzheimer’s disease (sEOAD) exhibits the symptoms of late onset Alzheimer’s disease (LOAD) but lacks the familial aspect of the early onset familial form. The genetics of Alzheimer’s disease (AD) identifies APOEε4 to be the great... Read More

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. doi:10.3233/ADR-170015. ISSN 2542-4823

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

Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease (2017)
Journal Article
Sims, R., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., …Morgan, K. (in press). Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease. Nature Genetics, 49(9), doi:10.1038/ng.3916. ISSN 1061-4036

We identified rare coding variants associated with Alzheimer's disease in a three-stage case–control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 ×... Read More

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array (2016)
Journal Article
Barber, I. S., Braae, A., Clement, N., Patel, T., Guetta-Baranes, T., Brookes, K., …Morgan, K. (2017). Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging, 49, doi:10.1016/j.neurobiolaging.2016.09.008. ISSN 0197-4580

We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals ha... Read More

Identifying polymorphisms in the Alzheimer's related APP gene using the MinION sequencer (2016)
Journal Article
Brookes, K. (2016). Identifying polymorphisms in the Alzheimer's related APP gene using the MinION sequencer. doi:10.4172/jngsa.1000125. ISSN 2469-9853

The MinION is a bench top sequencer by Oxford nanopore technologies (ONT) that allows long reads of DNA sequence. Few studies have tested whether polymorphisms can be detected using this device. Several polymorphisms within the APP gene were used to... Read More