Journal
PIGMENT CELL & MELANOMA RESEARCH
Volume 27, Issue 3, Pages 485-488Publisher
WILEY
DOI: 10.1111/pcmr.12215
Keywords
Case-controlstudy; melanoma; MITF; risk factors; single nucleotide polymorphism
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Funding
- National Cancer Institute at the National Institutes of Health [UO1 CA83180, R01 CA112524, K05 CA131675, R01 CA112243, R01 CA 112243-0521]
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A rare germline variant in the microphthalmia-associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI)=1.1, 2.7, P=0.03]; adjusted for age, sex, center, agexsex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R red hair variants' and MITF E318K. Moreover, risk of melanoma among carriers with low risk' phenotypes was as great or greater than among those with at risk' phenotypes with few exceptions.
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