New common variants affecting susceptibility to basal cell carcinoma.-猫眼课题宝

DOI：

10.1038/ng.412

发表时间：

2009-08

期刊：

NATURE GENETICS

影响因子：

30.8

通讯作者：

中科院分区：

生物学1区

文献类型：

作者：

Stacey, Simon N.;Sulem, Patrick;Masson, Gisli;Gudjonsson, Sigurjon A.;Thorleifsson, Gudmar;Jakobsdottir, Margret;Sigurdsson, Asgeir;Gudbjartsson, Daniel F.;Sigurgeirsson, Bardur;Benediktsdottir, Kristrun R.;Thorisdottir, Kristin;Ragnarsson, Rafn;Scherer, Dominique;Hemminki, Kari;Rudnai, Peter;Gurzau, Eugene;Koppova, Kvetoslava;Botella-Estrada, Rafael;Soriano, Virtudes;Juberias, Pablo;Saez, Berta;Gilaberte, Yolanda;Fuentelsaz, Victoria;Corredera, Cristina;Grasa, Matilde;Hoiom, Veronica;Lindblom, Annika;Bonenkamp, Johannes J.;van Rossum, Michelle M.;Aben, Katja K. H.;de Vries, Esther;Santinami, Mario;Di Mauro, Maria G.;Maurichi, Andrea;Wendt, Judith;Hochleitner, Pia;Pehamberger, Hubert;Gudmundsson, Julius;Magnusdottir, Droplaug N.;Gretarsdottir, Solveig;Holm, Hilma;Steinthorsdottir, Valgerdur;Frigge, Michael L.;Blondal, Thorarinn;Saemundsdottir, Jona;Bjarnason, Hjordis;Kristjansson, Kristleifur;Bjornsdottir, Gyda;Okamoto, Ichiro;Rivoltini, Licia;Rodolfo, Monica;Kiemeney, Lambertus A.;Hansson, Johan;Nagore, Eduardo;Mayordomo, Jose I.;Kumar, Rajiv;Karagas, Margaret R.;Nelson, Heather H.;Gulcher, Jeffrey R.;Rafnar, Thorunn;Thorsteinsdottir, Unnur;Olafsson, Jon H.;Kong, Augustine;Stefansson, Kari

来源链接：

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2973331/?report=classic

在我们之前报道的皮肤基底细胞癌（BCC）全基因组关联研究的后续研究中，我们在这里描述了几个新的易感变异。编码KRT5基因G138E替换的SNP rs11170164影响BCC的风险（OR = 1.35, P = 2.1 × 10−9）。靠近CDKN2A和CDKN2B的9p21位点变异也使BCC易感性（rs2151280[C]; OR = 1.19, P = 6.9 × 10−9），靠近印迹基因KLF14的7q32位点rs157935[T] （OR = 1.23, P = 5.7 × 10−10）。rs157935[T]的影响取决于风险等位基因的亲本来源。没有发现这些变异与黑色素瘤或浅色色素沉着特征有关。SLC45A2基因中与黑色素瘤和色素相关的变异L374F与BCC和鳞状细胞癌的风险相关。最后，我们报告了确凿的证据，表明TERT-CLPTM1L位点的rs401681[C]与BCC易感性有关，但对黑色素瘤有保护作用。

In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 × 10−9). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 × 10−9), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 × 10−10). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.