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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

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