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

被引:0
作者
Elizabeth Córdoba-Lanús
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
机构
[1] Hospital Universitario Nuestra Señora de Candelaria,Research Unit
[2] University of La Laguna,Pharmacology Unit, Antonio González Bio
[3] Hospital Universitario Dr. Negrín,Organic Universitary Institute
[4] Hospital Universitario Insular,Dermatology Department
[5] Hospital Universitario Nuestra Señora de Candelaria,Dermatology Department
[6] Hospital Universitario Nuestra Señora de Candelaria,Dermatology Department
来源
Archives of Dermatological Research | 2014年 / 306卷
关键词
Melanoma; gene; Variants; Caucasians;
D O I
暂无
中图分类号
学科分类号
摘要
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.
引用
收藏
页码:51 / 58
页数:7
相关论文
共 246 条
[1]  
Balch CM(2001)Final version of the American joint committee on cancer staging system for cutaneous melanoma J Clin Oncol 19 3635-3648
[2]  
Buzaid AC(2005)Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 263-265
[3]  
Soong SJ(2005)Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk Hum Mol Genet 14 2145-2154
[4]  
Atkins MB(2007)Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles Hum Mol Genet 16 2249-2260
[5]  
Cascinelli N(2009)The melanocortin-1 receptor gene polymorphism and association with human skin cancer Prog Mol Biol Transl Sci 88 85-153
[6]  
Coit DG(2004)Leptin and altitude in the cardiovascular diseases Obes Res 12 1492-1498
[7]  
Barret JC(2005)Distinct sets of genetic alterations in melanoma N Engl J Med 353 2135-2147
[8]  
Fry B(2006)MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk Int J Cancer 119 2597-2602
[9]  
Maller J(2008)Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands Int J Dermatol 47 806-811
[10]  
Daly MJ(2010)Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma J. Invest. Dermatol 130 520-528