|
| dbSNP-ID | Variant type, location, and/or consequence | Author, year (ref) | Genotyping platform used | Genotype | No. of patients (%) | Progression-free survival (PFS) (95% CI) | Time-to-progression (TTP) (95% CI) |
|
| rs11568315 | Intron variant, g.55020560_55020561AC[n] | Giovannetti et al., 2010 [57] | TaqMan assay | Both alleles ≤ 16CA | 30 (31.9) | NA | 3.2 (0.7–5.7)b |
| At least 1 allele > 16CA | 64 (68.1) | NA | 3.1 (2.4–3.8)b |
| Han et al., 2007 [55] | PCR and fragment length analysis | Both alleles ≥ 38CA | 46 (53.5) | NA | Reference |
| Both alleles ≤ 37CA | 40 (46.5) | NA | 0.54 (0.34–0.88)a |
| Ichihara et al., 2007 [26] | PCR and sequencing | Short allele ≥ 19CA or the sum of alleles ≥ 39CA | 63 (64.3) | Reference | NA |
| Short allele < 19CA or the sum of alleles < 39CA | 35 (35.7) | 1.08 (0.63–1.86)a | NA |
| Kim et al., 2017 [61] | TaqMan assay and sequencing | Both alleles ≤ 16CA | 74 (28.0) | Reference | NA |
| At least 1 allele > 16CA | 188 (72.0) | 0.94 (0.71–1.25)a | NA |
| Liu et al., 2008 [56] | PCR-RFLP | At least 1 allele > 16CA | 59 (64.0) | Reference | NA |
| Both alleles ≤ 16CA | 33 (36.0) | 0.54 (0.33–0.88)a | NA |
| Winther Larsen et al., 2014 [59] | PCR-RFLP and capillary electrophoresis | Any allele ≤ 16CA | 44 (71.0) | 0.39 (0.22–0.70)a | NA |
| Both alleles > 16CA | 18 (29.0) | Reference | NA |
|
| rs2227983 | Missense variant, 1562G>A, R497K | Giovannetti et al., 2010 [57] | TaqMan assay | GG or GA | 81 (88.0) | NA | 3.3 (2.4–5.0)b |
| AA | 11 (12.0) | NA | 3.1 (1.5–4.7)b |
| Liu et al., 2008 [56] | PCR-RFLP | AA | 43 (47.0) | Reference | NA |
| GG or GA | 49 (53.0) | 1.54 (0.98–2.42)a | NA |
|
| rs2293347 | Synonimous variant, 181946C>T, D994D | Winther-Larsen et al., 2015 [32] | AS-PCR or PCR followed by sequencing | CC | 252 (80.0) | Reference | NA |
| CT or TT | 64 (20.0) | 0.74 (0.55–0.99)a | NA |
|
| rs712829 | 5′ UTR variant, g.5031G>T, -216G>T | Giovannetti et al., 2010 [57] | TaqMan assay | GG | 34 (36.2) | NA | 3.2 (2.6–3.8)b |
| GT or TT | 60 (63.8) | NA | 3.2 (0.8–5.7)b |
| Jung et al., 2012 [25] | PCR-RFLP or PCR followed by sequencing | GG | 63 (88.7) | 5.1 (2.7–7.5)b | NA |
| GT | 8 (11.3) | 16.6 (5.8–27.5)b | NA |
| Kim et al., 2017 [61] | Taqman PCR and sequencing | GG | 78 (32.0) | Reference | NA |
| GT or TT | 162 (68.0) | 0.78 (0.59–1.03)a | NA |
| Winther-Larsen et al., 2015 [32] | AS-PCR or PCR followed by sequencing | GG | 134 (42.0) | Reference | NA |
| GT or TT | 182 (58.0) | 0.90 (0.70–1.14)a | NA |
| Liu et al., 2008 [56] | PCR-RFLP | GG | 34 (37.0) | Reference | NA |
| GT or TT | 58 (63.0) | 0.62 (0.38–0.99)a | NA |
| rs712830 | 5′ UTR variant, g.5056A>C, -191C/A | Giovannetti et al., 2010 [57] | TaqMan assay | CC | 78 (83.0) | NA | 3.2 (2.5–3.9)b |
| CA or AA | 16 (17.0) | NA | 3.2 (3.0–3.4)b |
| Kim et al., 2017 [61] | Taqman PCR and sequencing | CC | 195 (81.0) | Reference | NA |
| CA or AA | 45 (19.0) | 1.13 (0.8–1.58)a | NA |
| Winther-Larsen et al., 2015 [32] | AS-PCR or PCR followed by sequencing | CC | 236 (75.0) | Reference | NA |
| CA or AA | 80 (25.0) | 1.15 (0.88–1.51)a | NA |
| Liu et al., 2008 [56] | PCR-RFLP | CC | 81 (88.0) | Reference | NA |
| CA or AA | 11 (12.0) | 0.86 (0.40–1.85)a | NA |
|
