Table 2.
Allele Frequencies of MC1R Gene Variants in the Various Skin Types[Note]
| Variant (Nucleotide Change) | Skin Types I–IV (n= 1,676) | Skin Type IV (n = 96) | Skin Type III (n = 696) | Skin Type II (n = 714) | Skin Type I (n = 170) | Pa |
| No. (%) of Patients with Skin Typea |
||||||
| Val60Leu (178G→T) | 156 | 9 (9.4) | 59 (8.5) | 72 (10.1) | 16 (9.4) | .04 |
| Asp84Glu (252C→A) | 24 | 1 (1.0) | 6 (.9) | 14 (2.0) | 3 (1.8) | .10 |
| Val92Met (284G→A) | 146 | 6 (6.3) | 58 (8.3) | 62 (8.7) | 20 (11.8) | .004 |
| Arg142His (425G→A) | 13 | 0 (.0) | 4 (.6) | 7 (1.0) | 2 (1.2) | .41 |
| Arg151Cys (451C→T) | 133 | 1 (1.0) | 27 (3.9) | 60 (8.4) | 25 (14.7) | <.0001 |
| Arg160Trp (478C→T) | 189 | 7 (7.3) | 53 (7.6) | 97 (13.6) | 32 (18.8) | <.0001 |
| Arg163Gln (488G→A) | 75 | 4 (4.2) | 29 (4.2) | 34 (4.8) | 8 (4.7) | .22 |
| His260Pro (779A→C) | 13 | 1 (1.0) | 5 (.7) | 5 (.7) | 2 (1.2) | .61 |
| Asp294His (880G→C) | 19 | 0 (.0) | 6 (.9) | 8 (1.1) | 5 (2.9) | .02 |
| Othersb | 67 | 5 (5.2) |
27 (3.9) |
31 (4.3) |
4 (2.4) |
.58 |
| Frequency(%) |
||||||
| All | 35.5 | 39.2 | 54.7 | 68.8 | ||
Note.— n = no. of alleles.
a
Calculated in a logistic regression model with the wild-type allele as the reference.
b
Other variants, constituting <0.5% of total alleles, were as follows: Pro18Ala (52C→G), Ala81Pro (241G→C), Thr95Met (284C→T), Gly104Ser (310G→A), Arg151Arg (453C→G), Ile155Thr (925T→C), Val173del, Val174Ile (981G→A), Pro230Leu (689C→T), Pro230Pro (690G→A), Gln233Gln (699G→A), Ile264Ile (792C→T), Lys278Glu (832A→G), Asn279Ser (835A→G), Asn279Lys (836C→A), 86InsA, and 537InsC.