A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk
Table 2
Association of different variant subgroups with melanoma risk.
Patientsc (chr = 2262)
Controlsc (chr = 1738)
OR [95% CI]
P value
PAF (%)
Reference sequencea
936
976
Ref.
Ref.
All R variantsb
500/0.22
196/0.11
2.66 [2.20–3.23]
15.8
Individual RHC variant
D84E
23/0.01
13/0.007
1.85 [0.89–3.87]
0.092
0.8
R142H
29/0.01
13/0.007
2.33 [1.16–4.75]
0.012
1
R151C
211/0.09
76/0.04
2.90 [2.18–3.86]
7.4
R160W
152/0.07
59/0.03
2.69 [1.94–3.72]
5.7
D294H
85/0.04
35/0.02
2.53 [1.66–3.87]
2.9
All r variants
980/0.43
678/0.39
1.51 [1.32–1.73]
16.6
Frequent r variants
V60L
359/0.16
254/0.15
1.47 [1.22–1.78]
6.5
V92M
188/0.08
113/0.07
1.73 [1.34–2.25]
4.5
I155T
35/0.02
14/0.008
2.61 [1.35–5.12]
0.002
1.3
R163Q
75/0.03
57/0.03
1.37 [0.95–1.98]
0.087
1.2
Rare r variants
57/0.025
31/0.017
1.92 [1.20–3.07]
0.004
1.6
D variants
48/0.02
21/0.01
2.38 [1.38–4.15]
0.001
1.6
nD variants
9/0.004
10/0.006
0.94 [0.35–2.51]
1
Number of alleles containing wild-type sequence or synonymous variants and used as reference.
bAll R variants including D84E, R142H, R151C, R160W, and D294H.
cNumber of alleles/MAF (minor allelic frequency). R: red hair colour variant; r: nonred hair colour variant; D: predicted to be damaging; nD: predicted to be nondamaging; OR: odds ratio; CI: confidence interval; PAF: population attributable fraction. Statistically significant results are shown in bold. Ref, used as reference.
