基底細(xì)胞癌（BCC）是歐洲裔種群中最常見的癌癥，盡管不像其他皮膚癌那樣致命,，但卻能毀容,。研究人員在日前在線出版的《自然—遺傳學(xué)》期刊上報(bào)告，他們鑒別出兩種與基底細(xì)胞癌相關(guān)的新變異,。
以攜帶和不攜帶基底細(xì)胞癌的冰島人群為對(duì)象,，Unnur Thorsteinsdottir,、Kari Stefansson和同事實(shí)施了一組泛基因組相關(guān)性研究，之后,，又對(duì)額外受影響的冰島人和東歐人進(jìn)行了重復(fù)研究,。染色體1號(hào)傾向于出現(xiàn)基底細(xì)胞癌，在這個(gè)染色體的不同區(qū)域,，他們鑒別出兩種與基底細(xì)胞癌相關(guān)的變異,。以前鑒別出的基底細(xì)胞癌相關(guān)性風(fēng)險(xiǎn)因子與皮膚的光潔和美好有關(guān)，但1號(hào)染色體上的這種變異與此不相關(guān),。研究人員由此推測(cè),，這兩種變異應(yīng)該是通過一種截然不同的通道增加了這種癌癥的風(fēng)險(xiǎn)。
考慮到所有這些遺傳風(fēng)險(xiǎn)因子均是最近發(fā)現(xiàn)的,，論文作者指出,，與攜帶這兩種正常基因的人群相比,，攜帶這兩種變異基因的人群患這種癌癥的風(fēng)險(xiǎn)要高出12倍,。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics，40, 1313 - 1318,，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 Stacey1, Daniel F Gudbjartsson1, Patrick Sulem1, Jon T Bergthorsson1, Rajiv Kumar2, Gudmar Thorleifsson1, Asgeir Sigurdsson1, Margret Jakobsdottir1, Bardur Sigurgeirsson3, Kristrun R Benediktsdottir3, Kristin Thorisdottir3, Rafn Ragnarsson3, Dominique Scherer2, Peter Rudnai4, Eugene Gurzau5, Kvetoslava Koppova6, Veronica H?iom7, Rafael Botella-Estrada8, Virtudes Soriano9, Pablo Juberías10, Matilde Grasa10, Francisco J Carapeto10, Pilar Tabuenca11, Yolanda Gilaberte12, Julius Gudmundsson1, Steinunn Thorlacius1, Agnar Helgason1, Theodora Thorlacius1, Aslaug Jonasdottir1, Thorarinn Blondal1, Sigurjon A Gudjonsson1, Gudbj?rn F Jonsson1, Jona Saemundsdottir1, Kristleifur Kristjansson1, Gyda Bjornsdottir1, Steinunn G Sveinsdottir13, Magali Mouy1, Frank Geller1, Eduardo Nagore8, José I Mayordomo14, Johan Hansson7, Thorunn Rafnar1, Augustine Kong1, Jon H Olafsson3, Unnur Thorsteinsdottir1 & Kari Stefansson1
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 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. 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.
1 deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
2 Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg, D-69120, Germany.
3 Departments of Dermatology, Pathology and Plastic Surgery, Landspitali-University Hospital, 101 Reykjavik, Iceland.
4 National Institute of Environmental Health, Budapest, H-1450, Hungary.
5 Environmental Health Centre, Cluj, RO-Cluj-Napoca, Romania.
6 State Health Institute, Banska Bystrica, SK-975 56, Slovakia.
7 Department of Oncology Pathology, Cancer Centre Karolinska, Karolinska Institutet, Karolinska University Hospital Solna Stockholm, S-171 76, Sweden.
8 Department of Dermatology, Instituto Valenciano de Oncologia, 46009, Valencia, Spain.
9 Department of Oncology, Instituto Valenciano de Oncologia, 46009, Valencia, Spain.
10 Division of Dermatology, University Hospital, 50009, Zaragoza, Spain.
11 Health Science Institute, 50009, Zaragoza, Spain.
12 Division of Dermatology. San Jorge General Hospital, 22004, Huesca, Spain.
13 Clinical Research Centre, 110 Reykjavik, Iceland.
14 Division of Medical Oncology, University Hospital, 50009, Zaragoza, Spain.
