冰岛研究人员10月12日宣布，他们新发现两种遗传变异，体内同时存在这两种变异的人患皮肤基细胞癌的风险比常人要高出近3倍。
冰岛“遗传解码”公司的研究人员在新一期英国《自然—遗传学》杂志上介绍说，他们对3万多人的基因进行分析后获得了以上发现，这些研究对象都具有欧人血统。研究结果表明，位于人体1号染色体上的这两种遗传变异除了与基细胞癌发病相关外，对人的皮肤颜色没有什么影响。
基细胞癌是最常见的一种皮肤癌，多数病例都与长时间接受日光紫外线照射有一定关系。如果发现较早，大多数基细胞癌病例能够得到有效治疗。
研究人员此前已发现三种与基细胞癌发病风险相关的遗传变异。冰岛研究人员的研究结果显示，加上新发现的两种遗传变异，同时携带这5种遗传变异的人患基细胞癌的风险比常人高出约12倍。（生物谷Bioon.com）
生物谷推荐原始出处：
Nature Genetics，doi:10.1038/ng.234，Simon N Stacey, Unnur Thorsteinsdottir & Kari Stefansson
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
Simon N Stacey, Daniel F Gudbjartsson, Patrick Sulem, Jon T Bergthorsson, Rajiv Kumar, Gudmar Thorleifsson, Asgeir Sigurdsson, Margret Jakobsdottir, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Veronica H?iom, Rafael Botella-Estrada, Virtudes Soriano, Pablo Juberías, Matilde Grasa, Francisco J Carapeto, Pilar Tabuenca, Yolanda Gilaberte, Julius Gudmundsson, Steinunn Thorlacius, Agnar Helgason, Theodora Thorlacius, Aslaug Jonasdottir, Thorarinn Blondal, Sigurjon A Gudjonsson, Gudbj?rn F Jonsson, Jona Saemundsdottir, Kristleifur Kristjansson, Gyda Bjornsdottir, Steinunn G Sveinsdottir, Magali Mouy, Frank Geller, Eduardo Nagore, José I Mayordomo, Johan Hansson, Thorunn Rafnar, Augustine Kong, Jon H Olafsson, Unnur Thorsteinsdottir & Kari Stefansson
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 ×10-12) and rs801114 on 1q42 (OR = 1.28, P = 5.9 ×10-12). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 andARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homologRHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.
