冰島研究人員10月12日宣布，他們新發(fā)現(xiàn)兩種遺傳變異,，體內(nèi)同時存在這兩種變異的人患皮膚基細胞癌的風險比常人要高出近3倍,。
冰島“遺傳解碼”公司的研究人員在新一期英國《自然—遺傳學》雜志上介紹說，他們對3萬多人的基因進行分析后獲得了以上發(fā)現(xiàn),，這些研究對象都具有歐人血統(tǒng),。研究結(jié)果表明，位于人體1號染色體上的這兩種遺傳變異除了與基細胞癌發(fā)病相關(guān)外,，對人的皮膚顏色沒有什么影響,。
基細胞癌是最常見的一種皮膚癌，多數(shù)病例都與長時間接受日光紫外線照射有一定關(guān)系,。如果發(fā)現(xiàn)較早,，大多數(shù)基細胞癌病例能夠得到有效治療。
研究人員此前已發(fā)現(xiàn)三種與基細胞癌發(fā)病風險相關(guān)的遺傳變異,。冰島研究人員的研究結(jié)果顯示，加上新發(fā)現(xiàn)的兩種遺傳變異,，同時攜帶這5種遺傳變異的人患基細胞癌的風險比常人高出約12倍,。（生物谷Bioon.com）
生物谷推薦原始出處：
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.
