Table 1.
MITF E318K association with melanoma
| Population | Group | No. of individuals with variant | No. of individuals without variant | Variant carrier frequency | OR | 95% CI | One-sided exact P | Two-sided exact P |
|---|---|---|---|---|---|---|---|---|
| Australia | Cases | 34 | 2,025 | 0.0165 | 2.33 | 1.21–4.70 | 0.0045 | 0.0083 |
| Controls | 14 | 1,939 | 0.0072 | |||||
| UK | Cases | 34 | 1,895 | 0.0176 | 2.09 | 1.14–3.94 | 0.0074 | 0.0115 |
| Controls | 18 | 2,097 | 0.0085 | |||||
| Australia + UK | Cases | 68 | 3,920 | 0.0171 | 2.19 | 1.41–3.45 | 0.0001 | 0.0003 |
| Controls | 32 | 4,036 | 0.0079 |
It should be noted that the reported allele frequencies for MITF E318K in the population-based samples are without removing individuals with CDKN2A or CDK4 mutations, as screening for these genes was not routinely performed.