Table 3. Allele frequency, summary odds ratios for the association between single MC1R variants and non-melanoma skin cancer and heterogeneity estimates.
|
All studies |
Sequenced studies only |
|||||||
|---|---|---|---|---|---|---|---|---|
| MC1R variant | NMSC | Allele frequency in controls (%) | N studies (N cases/N controls) | SOR (95%CI)a | Q-test P-value | I2 (%) | N studies (N cases/N controls) | SOR (95%CI)a |
| V60L | All | 9.7% | 8 (3403/9129) | 1.42 (1.19–1.70) | 0.13 | 36.5 | 4 (1434/1423) | 1.73 (1.39–2.16) |
| BCC | 7 (2664/8695) | 1.39 (1.12–1.72) | 0.07 | 48.6 | 3 (1246/1293) | 1.75 (1.39–2.20) | ||
| SCC | 5 (886/7406) | 1.53 (1.22–1.93) | 0.67 | 0 | 2 (237/508) | 1.98 (1.16–3.38) | ||
| D84E | All | 0.5% | 5 (1720/1703) | 2.66 (1.06–6.65) | 0.07 | 53.1 | 4 (1434/1423) | 3.16 (1.06–9.42) |
| BCC | 4 (1396/1573) | 3.52 (1.49–8.31) | 0.16 | 42.2 | 3 (1246/1293) | 4.55 (1.75–11.82) | ||
| SCC | 3 (375/788) | 1.96 (0.45–8.55) | 0.13 | 50.5 | 2 (237/508) | 2.01 (0.18–22.76) | ||
| V92M | All | 8.8% | 6 (2125/2541) | 1.56 (1.23–1.97) | 0.20 | 30.4 | 4 (1434/1423) | 1.74 (1.38–2.20) |
| BCC | 5 (1651/2105) | 1.46 (1.09–1.96) | 0.13 | 44.3 | 3 (1246/1293) | 1.74 (1.37–2.22) | ||
| SCC | 3 (523/814) | 1.94 (1.32–2.85) | 0.85 | 0 | 2 (237/508) | 1.81 (1.05–3.10) | ||
| R142H | All | 0.6% | 4 (2389/7469) | 1.20 (0.74–1.94) | 0.40 | 0 | 3 (1347/1293) | 1.37 (0.66–2.84) |
| BCC | 4 (2123/7469) | 1.12 (0.68–1.87) | 0.41 | 0 | 3 (1246/1293) | 1.29 (0.63–2.64) | ||
| SCC | 2 (412/6554) | 1.59 (0.59–4.24) | 0.83 | 0 | 1 (150/378) | 1.87 (0.31–11.22) | ||
| R151C | All | 6.0% | 8 (3465/9229) | 1.99 (1.50–2.65) | 0.002 | 67.7 | 4 (1434/1423) | 2.57 (1.90–3.48) |
| BCC | 7 (2698/8796) | 1.86 (1.35–2.56) | 0.004 | 69.1 | 3 (1246/1293) | 2.52 (1.68–3.77) | ||
| SCC | 5 (915/7509) | 2.10 (1.53–2.87) | 0.21 | 31.3 | 2 (237/508) | 3.16 (1.82–5.50) | ||
| I155T | All | 1.0% | 5 (2040/2408) | 1.80 (0.87–3.72) | 0.06 | 52.0 | 3 (1347/1293) | 2.38 (1.25–4.53) |
| BCC | 5 (1655/2105) | 1.54 (0.69–3.45) | 0.07 | 53.6 | 3 (1246/1293) | 2.33 (1.23–4.44) | ||
| SCC | 2 (434/681) | 4.60 (1.44–14.75) | 0.42 | 0 | 1 (150/378) | 11.46 (0.93–140.38) | ||
| R160W | All | 8.5% | 8 (3475/9238) | 1.67 (1.37–2.05) | 0.08 | 43.4 | 4 (1434/1423) | 1.92 (1.52–2.43) |
| BCC | 7 (2702/8805) | 1.61 (1.26–2.06) | 0.03 | 55.9 | 3 (1246/1293) | 1.89 (1.47–2.42) | ||
| SCC | 5 (920/7515) | 1.97 (1.57–2.47) | 0.72 | 0 | 2 (237/508) | 2.66 (1.60–4.43) | ||
| R163Q | All | 4.9% | 7 (3217/9097) | 1.50 (1.11–2.02) | 0.05 | 51.0 | 4 (1434/1423) | 1.93 (1.22–3.06) |
| BCC | 6 (2574/8660) | 1.39 (0.99–1.94) | 0.05 | 54.3 | 3 (1246/1293) | 1.69 (0.96–2.99) | ||
| SCC | 4 (792/7374) | 1.37 (0.90–2.08) | 0.24 | 28.6 | 2 (237/508) | 1.85 (0.60–5.73) | ||
| D294H | All | 1.2% | 7 (2393/2816) | 2.06 (1.45–2.93) | 0.86 | 0 | 4 (1434/1423) | 2.37 (1.39–4.05) |
| BCC | 6 (1788/2382) | 1.77 (1.17–2.68) | 0.97 | 0 | 3 (1246/1293) | 2.09 (1.17–3.72) | ||
| SCC | 4 (656/1095) | 2.90 (1.70–4.96) | 0.39 | 0.6 | 2 (237/508) | 5.07 (1.79–14.36) | ||
Abbreviations: BCC=basal cell carcinoma; CI=confidence interval; MC1R=melanocortin-1-receptor; NMSC=non-melanoma skin cancer; SCC=squamous cell carcinoma; SOR=summary odds ratio.
Note: significant ORs and P-values are in bold.
a
For studies that did not sequence MC1R gene reference category includes both wild-type and carriers of any MC1R variant not specifically assessed in the original study. For studies that sequenced MC1R gene it includes only wild type.