From: MicroRNA-binding site polymorphisms in hematological malignancies
Gene | SNP ID | Variants | Predicted to affect binding of | Disease | Cases | Controls | Parameter | OR (95% CI), p value | Effect on miRNA binding and gene/protein expression | Ref. |
---|---|---|---|---|---|---|---|---|---|---|
KRT81 | rs3660 | G > C | miR-17, miR-20a/b, miR-93, miR-106a/b, miR-519d | MM | 137 | Â | OS | p = 0.037 | Effect on protein expression confirmed in gene reporter assay and in vivo | [13] |
 | HL | 139 |  | Treatment-related toxicity | 6.65 (1.33-33.26), p = 0.021 | Not examined | [15] | |||
 | NHL | 210 |  | OS | p = 0.012 | Not examined | [16] | |||
XPO5 | rs11077 | A > C | miR-4763-5p | MM | 137 | Â | OS | p = 0.012 | Effect on protein expression confirmed in gene reporter assay | [13] |
PFS | p = 0.013 | |||||||||
 | HL | 127 |  | Treatment-related toxicity | 0.49 (0.006-0.376), p = 0.004 | Not examined | [15] | |||
DFS | p = 0.039 | |||||||||
OS | p = 0.033 | |||||||||
TP53 | 187 novel SNVs | Â | majority of SNVs located in miRNA-binding sites | DLBCL | 491 | Â | OS | p = 0.019 | Effect of three SNVs on miR-125b binding and protein expression confirmed in gene reporter assay | [18] |
PFS | p = 0.018 | |||||||||
in patients with mutated p53 CDS | ||||||||||
C14orf101 | rs4901706 | G > A | Â | NHL | 359 | Â | OS | p = 0.015 | Effect on protein expression confirmed in gene reporter assay | [19] |
 | NHL | 210 | 233 | Risk | NS | Not examined | [16] | |||
OS | NS | |||||||||
NPM1 | rs34351976 | T > - | miR-337-5p, miR-887 | AML | 93 | Â | OS | p = 0.016 | Effect on miR-337-5p binding and protein expression confirmed in gene reporter assay, effect on mRNA levels confirmed in vivo | [21] |
RFS | p = 0.007 | |||||||||
ETV6 | rs1576313 | T > C | miR-34c-5p, miR-449b-5p | Childhood ALL | 101 | 471 | Risk | 1.9 (1.16-3.11), p = 0.0107 | Effect on miR-34c-5p and miR-449b-5p binding and protein expression confirmed in gene reporter assay | [22] |
TLX1 | rs2742038 | C > T | miR-492 | Childhood ALL | 101 | 471 | Risk | 3.97 (1.43-11.02), p = 0.0081 | No effect on miR-492 binding and protein expression observed in gene reporter assay | [22] |
PML | rs9479 | G > A | miR-510-5p, miR-589-3p | Childhood ALL | 101 | 471 | Risk | 0.55 (0.36-0.85), p = 0.0079 | Effect on miR-510-5p binding and protein expression confirmed in gene reporter assay; no effect observed for miR-589-3p | [22] |
AML | 87 | 471 | Risk | 0.6 (0.38-0.97), p = 0.0372 | ||||||
ARHGAP26 | rs187729 | T > C | miR-18a-3p | CML | 140 | 471 | Risk | 1.63 (1.07-2.47), p = 0.0213 | Effect on miR-18a-3p binding and protein expression confirmed in gene reporter assay | [22] |
IRF8 | rs10514611 | C > T | miR-330-3p | CML | 140 | 471 | Risk | 2.4 (1.12-5.15), p = 0.0246 | No effect on miR-330-3p binding and protein expression observed in gene reporter assay | [22] |