Data/hora: 13/06/2024 01:16:19

Provedor de dados: | 46
País: | Argentina
Título: | Melanoma, ancestry and MC1R variants in the Uruguayan admixed population
Autores: | Hochmann,J; Cappetta,M; Pérez,J; Colistro,V; Nicolleti,S; Larre Borges,A; Ribas,G; Martínez Asuaga,M; Bertoni,B.
Data: | 2016-06-01
Ano: | 2016
Palavras-chave: | Melanoma susceptibility; Melanocortin 1 Receptor gene; Red Hair Color (RHC) mutations; Ancestry; Uruguayan population.
Resumo: | Malignant melanoma (MM) is the most dangerous type of skin cancer and the main cause of death produced by skin diseases. In Uruguay, the incidence rate is 3.8/100,000, one of the highest in Latin America. We analyzed the contribution of ancestry and MC1R as a candidate gene for sporadic melanoma in Uruguay. Our objective wasto investigate the possible associations between ancestry and the MC1R gene with sporadic melanoma in the Uruguayan population. To that end, one hundred patients with sporadic MM and 107 controls were recruited. Phenotypic factors and lifestyle were evaluated as risk factors. At the same time, we analyzed fiveancestry informative markers, the MC1R variants (R151, R160 and D294H) and five tag-SNPs. Phototype, atypical nevi, sunburns and recreational exposure were the main risk factors for MM in the Uruguayan population. We confirmed 16q as a candidate region for MM. R151C, and R160W showed an important association with risk of melanoma (OR= 3.85, P= 1 x 10-2; OR= 10.15, P= 7 x 10-3, respectively). Furthermore, three novel MC1R haplotypes from the promoter region were detected, and the two most common haplotypes for the coding region were different to the ones found in Europeans through HapMap. However, MC1R coding region haplotypes revealed a highly similar frequency to that of the Spanish population. Our results showed that the chromosomal 16q region confers susceptibility to MM risk in the Uruguayan population. In addition, the admixed genome structure of the MC1R region could be part of the explanation of melanoma etiology.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332016000100001
Editor: | Sociedad Argentina de Genética
Formato: | text/html
Fonte: | BAG. Journal of basic and applied genetics  v.27 n.1 2016
Fonte: | info:eu-repo/semantics/openAccess