MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project
Background: The melanocortin-1-receptor ( MC1R ) gene regulates human pigmentation and is highly polymorphic in populations of European origins. The aims of this study were to evaluate the association between MC1R variants and the risk of non-melanoma skin cancer (NMSC), and to investigate whether r...
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Published in | Breast cancer research and treatment Vol. 113; no. 2; pp. 354 - 363 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
Nature Publishing Group UK
14.07.2015
Nature Publishing Group Cancer Research UK Springer Verlag |
Subjects | |
Online Access | Get full text |
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Summary: | Background:
The melanocortin-1-receptor (
MC1R
) gene regulates human pigmentation and is highly polymorphic in populations of European origins. The aims of this study were to evaluate the association between
MC1R
variants and the risk of non-melanoma skin cancer (NMSC), and to investigate whether risk estimates differed by phenotypic characteristics.
Methods:
Data on 3527 NMSC cases and 9391 controls were gathered through the M-SKIP Project, an international pooled-analysis on
MC1R
, skin cancer and phenotypic characteristics. We calculated summary odds ratios (SOR) with random-effect models, and performed stratified analyses.
Results:
Subjects carrying at least one
MC1R
variant had an increased risk of NMSC overall, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC): SOR (95%CI) were 1.48 (1.24–1.76), 1.39 (1.15–1.69) and 1.61 (1.35–1.91), respectively. All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19–1.70) for V60L to 2.66 (1.06–6.65) for D84E variant. In stratified analysis, there was no consistent pattern of association between
MC1R
and NMSC by skin type, but we consistently observed higher SORs for subjects without red hair.
Conclusions:
Our pooled-analysis highlighted a role of
MC1R
variants in NMSC development and suggested an effect modification by red hair colour phenotype. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 PMCID: PMC4506395 |
ISSN: | 0007-0920 0167-6806 1532-1827 1573-7217 |
DOI: | 10.1038/bjc.2015.231 |