Tags

Type your tag names separated by a space and hit enter

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.
Melanoma Res 2006; 16(2):175-82MR

Abstract

The melanocortin-1 receptor (MC1R) gene is a key determinant of the physiological variation in human skin pigmentation. It is highly polymorphic, and specific MC1R allelic variants have been shown to be low-penetrance melanoma susceptibility alleles. We investigated the contribution of the MC1R genotype to the risk of sporadic cutaneous melanoma in a population in central Italy. One hundred patients with sporadic cutaneous melanoma of any stage and 100 unrelated control individuals were consecutively recruited between 1 September 2000 and 31 December 2001. Information on ethnic background and residential history, phenotypic risk factors for melanoma and ultraviolet exposure habits was collected through a standardized questionnaire and total skin examination. Sequence analysis of the entire coding region of the MC1R gene was performed. A total of 26 MC1R variants, including a novel 123_124insT allele, was identified in our population, with the most frequent allele being V60L. Carriers of high-penetrance 'R' MC1R alleles, that define MC1R variants strongly associated with the red hair colour phenotype, showed a statistically significant increase in melanoma risk [odds ratio (OR), 2.55; 95% confidence interval (CI), 1.19-5.55]. No significant association with melanoma risk was observed for carriers of 'r' variants (OR, 0.90; 95% CI, 0.45-1.82). Amongst individual MC1R variants, the R151C allele was significantly associated with melanoma, with an OR of 2.94 (95% CI, 1.04-8.31). After stratification for clinical and ultraviolet exposure risk factors, the melanoma risk associated with high-penetrance 'R' variants appeared to increase significantly, mainly in the presence of clinically atypical naevi, more than 50 melanocytic naevi, high recreational sun exposure and occupational sun exposure. These results support the contribution of high-penetrance MC1R variant alleles to genetic predisposition to sporadic cutaneous melanoma in a population in central Italy.

Authors+Show Affiliations

Departments of Dermatology, University of L'Aquila, L'Aquila, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16567973

Citation

Fargnoli, Maria Concetta, et al. "Contribution of Melanocortin-1 Receptor Gene Variants to Sporadic Cutaneous Melanoma Risk in a Population in Central Italy: a Case-control Study." Melanoma Research, vol. 16, no. 2, 2006, pp. 175-82.
Fargnoli MC, Altobelli E, Keller G, et al. Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study. Melanoma Res. 2006;16(2):175-82.
Fargnoli, M. C., Altobelli, E., Keller, G., Chimenti, S., Höfler, H., & Peris, K. (2006). Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study. Melanoma Research, 16(2), pp. 175-82.
Fargnoli MC, et al. Contribution of Melanocortin-1 Receptor Gene Variants to Sporadic Cutaneous Melanoma Risk in a Population in Central Italy: a Case-control Study. Melanoma Res. 2006;16(2):175-82. PubMed PMID: 16567973.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study. AU - Fargnoli,Maria Concetta, AU - Altobelli,Emma, AU - Keller,Gisela, AU - Chimenti,Sergio, AU - Höfler,Heinz, AU - Peris,Ketty, PY - 2006/3/29/pubmed PY - 2006/7/15/medline PY - 2006/3/29/entrez SP - 175 EP - 82 JF - Melanoma research JO - Melanoma Res. VL - 16 IS - 2 N2 - The melanocortin-1 receptor (MC1R) gene is a key determinant of the physiological variation in human skin pigmentation. It is highly polymorphic, and specific MC1R allelic variants have been shown to be low-penetrance melanoma susceptibility alleles. We investigated the contribution of the MC1R genotype to the risk of sporadic cutaneous melanoma in a population in central Italy. One hundred patients with sporadic cutaneous melanoma of any stage and 100 unrelated control individuals were consecutively recruited between 1 September 2000 and 31 December 2001. Information on ethnic background and residential history, phenotypic risk factors for melanoma and ultraviolet exposure habits was collected through a standardized questionnaire and total skin examination. Sequence analysis of the entire coding region of the MC1R gene was performed. A total of 26 MC1R variants, including a novel 123_124insT allele, was identified in our population, with the most frequent allele being V60L. Carriers of high-penetrance 'R' MC1R alleles, that define MC1R variants strongly associated with the red hair colour phenotype, showed a statistically significant increase in melanoma risk [odds ratio (OR), 2.55; 95% confidence interval (CI), 1.19-5.55]. No significant association with melanoma risk was observed for carriers of 'r' variants (OR, 0.90; 95% CI, 0.45-1.82). Amongst individual MC1R variants, the R151C allele was significantly associated with melanoma, with an OR of 2.94 (95% CI, 1.04-8.31). After stratification for clinical and ultraviolet exposure risk factors, the melanoma risk associated with high-penetrance 'R' variants appeared to increase significantly, mainly in the presence of clinically atypical naevi, more than 50 melanocytic naevi, high recreational sun exposure and occupational sun exposure. These results support the contribution of high-penetrance MC1R variant alleles to genetic predisposition to sporadic cutaneous melanoma in a population in central Italy. SN - 0960-8931 UR - https://www.unboundmedicine.com/medline/citation/16567973/Contribution_of_melanocortin_1_receptor_gene_variants_to_sporadic_cutaneous_melanoma_risk_in_a_population_in_central_Italy:_a_case_control_study_ L2 - http://Insights.ovid.com/pubmed?pmid=16567973 DB - PRIME DP - Unbound Medicine ER -