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MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.
Eur J Cancer 2012; 48(14):2183-91EJ

Abstract

BACKGROUND AND METHODS

Seven genetic biomarkers previously associated with melanoma were analysed in a meta-analysis conducted in three South European populations: five red hair colour (RHC) MC1R alleles, one SLC45A2 variant (p.Phe374Leu) and one thermosensitive TYR variant (p.Arg402Gln). The study included 1639 melanoma patients and 1342 control subjects.

RESULTS

The estimated odds ratio (OR) associated with carrying at least one MC1R RHC variant was 2.18 (95% confidence interval (CI): 1.86-2.55; p-value=1.02×10(-21)), with an additive effect for carrying two RHC variants (OR: 5.02, 95% CI: 2.88-8.94, p-value=3.91×10(-8)). The SLC45A2 variant, p.Phe374Leu, was significantly and strongly protective for melanoma in the three South European populations studied, with an overall OR value of 0.41 (95% CI: 0.33-0.50; p-value=3.50×10(-17)). The association with melanoma of the TYR variant p.Arg402Gln was also statistically significant (OR: 1.50; 95% CI: 1.11-2.04; p-value=0.0089). Adjustment for all clinical potential confounders showed that melanoma risks attributable to MC1R and SLC45A2 variants strongly persisted (OR: 2.01 95% CI: 1.49-2.72 and OR: 0.50, 95% CI: 0.31-0.80, respectively), while the association of TYR p.Arg402Gln was no longer significant. In addition, stratification of clinical melanoma risk factors showed that the risk of melanoma was strong in those individuals who did not have clinical risk factors.

CONCLUSION

In conclusion, our results show without ambiguity that in South European populations, MC1R RHC and SCL45A2 p.Phe374Leu variants are strong melanoma risk predictors, notably in those individuals who would not be identified as high risk based on their phenotypes or exposures alone. The use of these biomarkers in clinical practice could be promising and warrants further discussion.

Authors+Show Affiliations

Department of Haematology and Medical Oncology, Fundacion Investigacion Hospital Clinico-INCLIVA, Valencia, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Meta-Analysis
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22464347

Citation

Ibarrola-Villava, Maider, et al. "MC1R, SLC45A2 and TYR Genetic Variants Involved in Melanoma Susceptibility in Southern European Populations: Results From a Meta-analysis." European Journal of Cancer (Oxford, England : 1990), vol. 48, no. 14, 2012, pp. 2183-91.
Ibarrola-Villava M, Hu HH, Guedj M, et al. MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis. Eur J Cancer. 2012;48(14):2183-91.
Ibarrola-Villava, M., Hu, H. H., Guedj, M., Fernandez, L. P., Descamps, V., Basset-Seguin, N., ... Soufir, N. (2012). MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis. European Journal of Cancer (Oxford, England : 1990), 48(14), pp. 2183-91. doi:10.1016/j.ejca.2012.03.006.
Ibarrola-Villava M, et al. MC1R, SLC45A2 and TYR Genetic Variants Involved in Melanoma Susceptibility in Southern European Populations: Results From a Meta-analysis. Eur J Cancer. 2012;48(14):2183-91. PubMed PMID: 22464347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis. AU - Ibarrola-Villava,Maider, AU - Hu,Hui-Han, AU - Guedj,Mickaël, AU - Fernandez,Lara P, AU - Descamps,Vincent, AU - Basset-Seguin,Nicole, AU - Bagot,Martine, AU - Benssussan,Armand, AU - Saiag,Philippe, AU - Fargnoli,Maria Concetta, AU - Peris,Ketty, AU - Aviles,Jose A, AU - Lluch,Ana, AU - Ribas,Gloria, AU - Soufir,Nadem, Y1 - 2012/03/28/ PY - 2012/01/16/received PY - 2012/02/27/revised PY - 2012/03/03/accepted PY - 2012/4/3/entrez PY - 2012/4/3/pubmed PY - 2012/11/3/medline SP - 2183 EP - 91 JF - European journal of cancer (Oxford, England : 1990) JO - Eur. J. Cancer VL - 48 IS - 14 N2 - BACKGROUND AND METHODS: Seven genetic biomarkers previously associated with melanoma were analysed in a meta-analysis conducted in three South European populations: five red hair colour (RHC) MC1R alleles, one SLC45A2 variant (p.Phe374Leu) and one thermosensitive TYR variant (p.Arg402Gln). The study included 1639 melanoma patients and 1342 control subjects. RESULTS: The estimated odds ratio (OR) associated with carrying at least one MC1R RHC variant was 2.18 (95% confidence interval (CI): 1.86-2.55; p-value=1.02×10(-21)), with an additive effect for carrying two RHC variants (OR: 5.02, 95% CI: 2.88-8.94, p-value=3.91×10(-8)). The SLC45A2 variant, p.Phe374Leu, was significantly and strongly protective for melanoma in the three South European populations studied, with an overall OR value of 0.41 (95% CI: 0.33-0.50; p-value=3.50×10(-17)). The association with melanoma of the TYR variant p.Arg402Gln was also statistically significant (OR: 1.50; 95% CI: 1.11-2.04; p-value=0.0089). Adjustment for all clinical potential confounders showed that melanoma risks attributable to MC1R and SLC45A2 variants strongly persisted (OR: 2.01 95% CI: 1.49-2.72 and OR: 0.50, 95% CI: 0.31-0.80, respectively), while the association of TYR p.Arg402Gln was no longer significant. In addition, stratification of clinical melanoma risk factors showed that the risk of melanoma was strong in those individuals who did not have clinical risk factors. CONCLUSION: In conclusion, our results show without ambiguity that in South European populations, MC1R RHC and SCL45A2 p.Phe374Leu variants are strong melanoma risk predictors, notably in those individuals who would not be identified as high risk based on their phenotypes or exposures alone. The use of these biomarkers in clinical practice could be promising and warrants further discussion. SN - 1879-0852 UR - https://www.unboundmedicine.com/medline/citation/22464347/MC1R_SLC45A2_and_TYR_genetic_variants_involved_in_melanoma_susceptibility_in_southern_European_populations:_results_from_a_meta_analysis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0959-8049(12)00251-1 DB - PRIME DP - Unbound Medicine ER -