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Fig. 5 | Clinical Epigenetics

Fig. 5

From: Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer’s disease

Fig. 5

Sites in ANK1 are characterized by significant DNA hypermethylation and hypohydroxymethylation in AD across an extended region. Using BS and OxBS pyrosequencing, we determined a 5mC, b 5hmC, and c uC levels in the EC in Braak V–VI samples compared to Braak 0-II in “validation cohort 2.” We assayed a 118-bp region containing cg05066959 (chr8:41519308) and cg1182378 (chr8:41519399). We demonstrated significant (P < 0.05) neuropathology-associated hypermethylation at seven of the eight CpG sites, significant hypohydroxymethylation at four of the eight CpG sites, and significantly decreased uC at five of the eight sites. d Global analysis of all sites within the 118 bp amplicon region highlighted a significant decrease in uC levels (P = 6.72 × 10−3) and increase in 5mC (P = 1.23 × 10−5) and a trend towards a decrease in 5hmC (P = 0.058) in individuals with Braak V–VI, compared to Braak 0–II. Data is represented as mean (± SEM) Key: *P < 0.05, **P < 0.01, ***P < 0.005

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