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. 2014 May;27(3):485-8.
doi: 10.1111/pcmr.12215. Epub 2014 Jan 30.

MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

Marianne Berwick  1 , Jamie MacArthur, Irene Orlow, Peter Kanetsky, Colin B Begg, Li Luo, Anne Reiner, Ajay Sharma, Bruce K Armstrong, Anne Kricker, Anne E Cust, Loraine D Marrett, Stephen B Gruber, Hoda Anton-Culver, Roberto Zanetti, Stefano Rosso, Richard P Gallagher, Terence Dwyer, Alison Venn, Klaus Busam, Lynn From, Kirsten White, Nancy E Thomas; GEM Study Group
Collaborators, Affiliations

MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

Marianne Berwick et al. Pigment Cell Melanoma Res. 2014 May.

Abstract

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, age × sex 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.

Keywords: Case-controlstudy; MITF; melanoma; risk factors; single nucleotide polymorphism.

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