期刊
CANCER GENETICS
卷 206, 期 3, 页码 81-91出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2013.01.002
关键词
Melanocortin 1 receptor gene; melanoma; rare MC1R variants; pigmentation; functionality of MC1R variants
资金
- European Economic Area (EEA) [EEZ09AP-38/08]
- European Regional Development Fund (ERDF) [2010/0233/2DP/2.1.1.1.0/10/APIA/VIAA/076]
To evaluate the association of melanocortin 1 receptor gene (MC1R) variants with melanoma risk in a Latvian population, the MC1R gene was sequenced in 200 melanoma patients and 200 control persons. A functional study of previously uncharacterized, rare MC1R variants was also performed. In total, 26 different MC1R variants, including two novel variants Val165lle and Val188lle, were detected. The highest risk of melanoma was associated with the Arg151Cys variant (odds ratio (OR) 4.47, 95% confidence interval (Cl) 2.19-9.14, P < 0.001). A gene dosage effect was observed, with melanoma risk for carriers of two variants being twice (OR 3.98, 95% Cl 2.15-7.38, P < 0.001) that of carriers of one variant (OR 1.98, 95% Cl 1.26-3.11, P = 0.003). After stratification according to the pigmentation phenotype, the risk of melanoma remained in groups with otherwise protective phenotypes. Functional analyses of eight previously uncharacterized MC1R variants revealed that a subset of them is functionally relevant. Our results support the contribution of MC1R variants to a genetic predisposition to melanoma in Latvia.
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