Gene

Neurology

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Bioinformatics

Biology

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Genetics

Medicine

Human genetics

Psychiatry

Alzheimer's disease

Clinical Epigenetics

Background Late-onset Alzheimer’s disease (AD) is a complex multifactorial affliction, the pathogenesis of which is thought to involve gene-environment interactions that might be captured in the epigenome. The present study investigated epigenome-wide patterns of DNA methylation (5-methylcytosine, 5mC) and hydroxymethylation (5-hydroxymethylcytosine, 5hmC), as well as the abundance of unmodified cytosine (UC), in relation to AD. Results We identified epigenetic differences in AD patients ( n = 45) as compared to age-matched controls ( n = 35) in the middle temporal gyrus, pertaining to genomic regions close to or overlapping with genes such as OXT (− 3.76% 5mC, p Šidák = 1.07E−06), CHRNB1 (+ 1.46% 5hmC, p Šidák = 4.01E−04), RHBDF2 (− 3.45% UC, p Šidák = 4.85E−06), and C3 (− 1.20% UC, p Šidák = 1.57E−03). In parallel, in an independent cohort, we compared the blood methylome of converters to AD dementia ( n = 54) and non-converters ( n = 42), at a preclinical stage. DNA methylation in the same region of the OX...

Alzheimer’s disease-associated (hydroxy)methylomic changes in the brain and blood