Alu Elements in ANRIL Non-Coding RNA at Chromosome 9p21 Modulate Atherogenic Cell Functions through Trans-Regulation of Gene Networks
(A) Chr9p21 haplotype structure (HapMap CEU, r2) and core atherosclerosis region (between rs12555547 and rs1333050). (B) Exons of initially discovered ANRIL transcripts and their relative position in the Chr9p21 region. *A full list of currently annotated ANRIL isoforms is given in Figure S1B. (C) ANRIL transcripts identified by RACE and PCR amplification (L1-L17). 4 major isoform groups with 4 distinct transcriptions ends were identified. Frequency of exon occurrence/isoform group is color-coded and given in %. ANRIL1-4 denote highly expressed consensus transcripts harbouring exons found in >50% transcripts of the respective isoform group (red). Dotted lines indicate positions of transcript-specific qRT-PCR assays. (D) Study design of ANRIL expression and association with Chr9p21. (E) Association of ANRIL isoforms with Chr9p21 in human PBMC, whole blood and vascular tissue (effect, % change/risk allele defined by rs10757274, rs2383206, rs2383297, and rs10757278).