Fig. 1

Overview of the full PM20D1 QTL region and its relation to AD in human frontal cortex. a The region comprises several genes (blue arrows) and is in partial linkage disequilibrium (HapMap CEU recombination map is indicated below the genes). PM20D1 mQTLs are indicated in black, of which the mQTLs most strongly associated with AD in bold magenta (rs708727) and bold red (rs960603) [11]. b Locus-specific bisulfite sequencing of PM20D1 QTL region genes. c rs708727 correlations with the levels of DNA methylation of PM20D1 QTL genes in human frontal cortex measured by pyrosequencing. d rs105692003, rs823144, rs708727, and rs1361754 are located in the coding region of NUCKS1, RAB7L1, SLC41A1, and PM20D1, respectively, and in linkage disequilibrium. Retrotranscription PCR Sanger sequencing of heterozygous samples detects RNA transcripts from both chromosomes for all genes, except for PM20D1 in which only one of the chromosomes is active. e rs708727 correlates with the levels of RNA expression of PM20D1 QTL genes in human frontal cortex measured by qRT-PCR. Single values are represented by dots, p values from Pearson’s correlations