Table 6.
Association of MC1R risk variants with familial cutaneous melanoma
| Familial CM cohort1
(AN = 956) |
Control cohort1
(AN = 898) |
OR | 95% CI | p value2 | |
|---|---|---|---|---|---|
| No. of individuals | 478 | 449 | |||
| Reference sequence3 | 388 | 549 | Ref. | Ref. | Ref. |
| All R variants | 0.342 | 0.140 | 3.67 | 2.88–4.68 | <0.001 |
| c.252C>A, p.D84E | 0.017 | 0.004 | 5.66 | 1.88–17.06 | 0.001 |
| c.425G>A, p.R142H | 0.008 | 0.008 | 1.62 | 0.58–4.50 | 0.431 |
| c.451C>T, p.R151C | 0.145 | 0.058 | 3.78 | 2.68–5.34 | <0.001 |
| c.478C>T, p.R160W | 0.150 | 0.059 | 3.82 | 2.72–5.37 | <0.001 |
| c.880G>C, p.D294H | 0.022 | 0.011 | 2.79 | 1.38–6.38 | 0.005 |
| All r variants | 0.252 | 0.248 | 1.53 | 1.22–1.91 | <0.001 |
| c.178G>T, p.V60L | 0.105 | 0.104 | 1.52 | 1.12–2.08 | 0.008 |
| c.274G>A, p.V92M | 0.082 | 0.081 | 1.51 | 1.07–2.13 | 0.021 |
| c.464T>C, p.I155T | 0.006 | 0.006 | 1.70 | 0.52–5.60 | 0.540 |
| c.488G>A, p.R163Q | 0.060 | 0.058 | 1.55 | 1.04–2.31 | 0.032 |
MC1R reference sequence: NM_002386.3.
Abbreviation: AN, allele number.
1
Minor allele frequency (MAF).
2
Using Fisher's exact test (two‐sided).
3
Number of alleles without any R or r variant.