最新研究表明身上长有很多痣的人易患黑色素瘤。黑色素瘤是三种最严重的皮肤癌之一,欧洲和澳洲科学家组成的研究小组通过对比一万人的三十万个单核苷酸多态位点发现有两个基因变异会导致多痣及黑色素瘤。这是科学家首次找到多痣与皮肤癌联系的遗传证据。
以前认为多数确诊患有黑色素瘤的病例多是天生红色头发和面部长有较多雀斑,过多的阳光直射也会造成黑色素瘤。但是通过研究发现人类9号和22号染色体上的某些基因变异会导致黑色素瘤发生,这些基因与肤色的差异无关。同样的基因变异也会使人体出现多痣的情况。
研究人员表示,皮肤癌发生的机理和主要原因仍然不是非常清楚,希望通过进一步研究能够查明皮肤癌发病的诱因,及时发现和治疗癌症。(生物谷Bioon.com)
生物谷推荐原始出处:
Nature Genetics 5 July 2009 | doi:10.1038/ng.411
Genome-wide association study identifies three loci associated with melanoma risk
D Timothy Bishop1, Florence Demenais2, Mark M Iles1, Mark Harland1, John C Taylor1, Eve Corda2,3, Juliette Randerson-Moor1, Joanne F Aitken4, Marie-Francoise Avril5, Esther Azizi6, Bert Bakker7, Giovanna Bianchi-Scarrà8, Brigitte Bressac-de Paillerets9, Donato Calista10, Lisa A Cannon-Albright11, Thomas Chin-A-Woeng12, Tadeusz Dbniak13, Gilli Galore-Haskel6, Paola Ghiorzo8, Ivo Gut14, Johan Hansson15, Marko Hoevar16, Veronica H?iom15, John L Hopper17, Christian Ingvar18, Peter A Kanetsky19, Richard F Kefford20, Maria Teresa Landi21, Julie Lang22, Jan Lubiski13, Rona Mackie23, Josep Malvehy24, Graham J Mann20, Nicholas G Martin25, Grant W Montgomery25, Frans A van Nieuwpoort26, Srdjan Novakovic16, H?kan Olsson18, Susana Puig24, Marjan Weiss7, Wilbert van Workum12, Diana Zelenika14, Kevin M Brown27, Alisa M Goldstein21, Elizabeth M Gillanders28, Anne Boland14, Pilar Galan29, David E Elder30, Nelleke A Gruis26, Nicholas K Hayward25, G Mark Lathrop3,14, Jennifer H Barrett1 & Julia A Newton Bishop1
We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 10-7. Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 10-27 for rs258322), 11q14-q21 encompassing TYR (P = 2.41 10-14 for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 10-7 for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.