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Fig. 2 | Human Genomics

Fig. 2

From: In silico prioritisation of microRNA-associated common variants in multiple sclerosis

Fig. 2

A Regional LocusZoom plot [62] showing high Linkage Disequilibrium (r2 > 0.9) between known MS susceptibility SNP rs10801908 (CD58) and our candidate SNP rs1414273, which lies in MIR548AC. Next, we highlight the predicted RNA secondary structure of the B reference sequence of hsa-mir-548ac compared to the C alternative (risk) allele. This figure shows the MEA prediction which has the greatest net change in free energy among the 3 models predicted by miRVaS (Additional file 1: Table S2). The arrow highlights the SNP rs1414273 (in red) located in the 3′ end (arm) of precursor sequence. Lower free energy measures indicate greater RNA stability; therefore, microRNA with the alternative risk allele is more thermodynamically stable than the reference allele. Candidate SNP rs2648841 is within genomic coordinates of MIR1208. D This variant represents a different signal from IMSGC SNPs rs6990534 and rs735542 (chr8:128175696) and E is not in LD with rs11989574, the peak SNP in its genomic region or rs1861842 (not shown) and rs759648 (chr8:129158945) which were implicated in African Americans and Europeans, respectively [53]. Although this SNP is below genome-wide significance (p = 3.86 × 10–5), its association with MS cannot be ruled out

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