Literature DB >> 24170137

MC1R gene variants and sporadic malignant melanoma susceptibility in the Canary Islands population.

Elizabeth Córdoba-Lanús1, José G Hernández-Jiménez, Chaxiraxi Medina-Coello, Adriana Espinoza-Jiménez, Ana González, María-Del-Cristo Rodríguez-Pérez, Gregorio Carretero-Hernández, Pablo Almeida, José Suárez-Hernández, Antonio Perera-Molinero, Ricardo Fernández-de-Misa.   

Abstract

Several MC1R variants are associated with increased risk of malignant melanoma (MM) in a variety of populations. We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. Overall, 1,046 Caucasian individuals were included in the study. A thousand of them were genotyped for MC1R variants: 509 were sporadic MM patients and 491 were healthy control subjects from general population. The analysis was adjusted for age, sex, hair colour, eye colour, skin phototype and ancestry. We found that carriers of the R151C and R163Q variants were at an increased risk for melanoma OR 2.76 (1.59-4.78) and OR 5.62 (2.54-12.42), respectively. The risk of carrying RHC variants was 3.04 (1.90-4.86). Current study confirms the increased MM risk for R151C carriers. It also supports the association between R163Q variant and MM risk in the population on the Canary Islands, as opposed to reported on northern populations. These results highlight the importance of the sample population selection in this kind of studies.

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Year:  2013        PMID: 24170137     DOI: 10.1007/s00403-013-1420-z

Source DB:  PubMed          Journal:  Arch Dermatol Res        ISSN: 0340-3696            Impact factor:   3.017


  5 in total

1.  The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Authors:  Gemma Tell-Marti; Joan Anton Puig-Butille; Pol Gimenez-Xavier; Ariadna Segu-Roig; Miriam Potrony; Celia Badenas; Victoria Alvarez; José M Millán; María José Trujillo-Tiebas; María A Ramos-Arroyo; Montserrat Milà; Susana Puig
Journal:  Mol Neurobiol       Date:  2016-12-06       Impact factor: 5.590

Review 2.  Update in genetic susceptibility in melanoma.

Authors:  Miriam Potrony; Celia Badenas; Paula Aguilera; Joan Anton Puig-Butille; Cristina Carrera; Josep Malvehy; Susana Puig
Journal:  Ann Transl Med       Date:  2015-09

3.  Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Authors:  Susana Puig; Miriam Potrony; Francisco Cuellar; Joan Anton Puig-Butille; Cristina Carrera; Paula Aguilera; Eduardo Nagore; Zaida Garcia-Casado; Celia Requena; Rajiv Kumar; Gilles Landman; Bianca Costa Soares de Sá; Gisele Gargantini Rezze; Luciana Facure; Alexandre Leon Ribeiro de Avila; Maria Isabel Achatz; Dirce Maria Carraro; João Pedreira Duprat Neto; Thais C Grazziotin; Renan R Bonamigo; Maria Carolina W Rey; Claudia Balestrini; Enrique Morales; Montserrat Molgo; Renato Marchiori Bakos; Patricia Ashton-Prolla; Roberto Giugliani; Alejandra Larre Borges; Virginia Barquet; Javiera Pérez; Miguel Martínez; Horacio Cabo; Emilia Cohen Sabban; Clara Latorre; Blanca Carlos-Ortega; Julio C Salas-Alanis; Roger Gonzalez; Zulema Olazaran; Josep Malvehy; Celia Badenas
Journal:  Genet Med       Date:  2015-12-17       Impact factor: 8.822

Review 4.  Adaptation of human skin color in various populations.

Authors:  Lian Deng; Shuhua Xu
Journal:  Hereditas       Date:  2017-06-15       Impact factor: 3.271

5.  MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Authors:  Amelia K Smit; Marielys Collazo-Roman; Susan T Vadaparampil; Stella Valavanis; Jocelyn Del Rio; Brenda Soto; Idhaliz Flores; Julie Dutil; Peter A Kanetsky
Journal:  Sci Rep       Date:  2020-04-29       Impact factor: 4.379

  5 in total

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