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

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• 作者：Elizabeth Córdoba-Lanús (1)
  José G. Hernández-Jiménez (2)
  Chaxiraxi Medina-Coello (1)
  Adriana Espinoza-Jiménez (1)
  Ana González (1)
  María-del-Cristo Rodríguez-Pérez (1)
  Gregorio Carretero-Hernández (3)
  Pablo Almeida (4)
  José Suárez-Hernández (5)
  Antonio Perera-Molinero (6)
  Ricardo Fernández-de-Misa (1) (5)
  
• 关键词：Melanoma ; MC1R gene ; Variants ; Caucasians
• 刊名：Archives of Dermatological Research
• 出版年：2014
• 出版时间：January 2014
• 年：2014
• 卷：306
• 期：1
• 页码：51-58
• 全文大小：214 KB
• 作者单位：Elizabeth Córdoba-Lanús (1)
  José G. Hernández-Jiménez (2)
  Chaxiraxi Medina-Coello (1)
  Adriana Espinoza-Jiménez (1)
  Ana González (1)
  María-del-Cristo Rodríguez-Pérez (1)
  Gregorio Carretero-Hernández (3)
  Pablo Almeida (4)
  José Suárez-Hernández (5)
  Antonio Perera-Molinero (6)
  Ricardo Fernández-de-Misa (1) (5)
  
  1. Research Unit, Hospital Universitario Nuestra Se?ora de Candelaria, Ctra. del Rosario 145, 38010, Santa Cruz de Tenerife, Spain
  2. Pharmacology Unit, Antonio González Bio-Organic Universitary Institute, University of La Laguna, Santa Cruz de Tenerife, Spain
  3. Dermatology Department, Hospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain
  4. Dermatology Department, Hospital Universitario Insular, Las Palmas de Gran Canaria, Spain
  5. Dermatology Department, Hospital Universitario Nuestra Se?ora de Candelaria, Santa Cruz de Tenerife, Spain
  6. Pathology Department, Hospital Universitario Nuestra Se?ora de Candelaria, Santa Cruz de Tenerife, Spain
  
• ISSN：1432-069X

文摘

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-.78) and OR 5.62 (2.54-2.42), respectively. The risk of carrying RHC variants was 3.04 (1.90-.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.