8q24上的序列变异赋予膀胱癌易感性。
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
作者信息
Kiemeney Lambertus A, Thorlacius Steinunn, Sulem Patrick, Geller Frank, Aben Katja K H, Stacey Simon N, Gudmundsson Julius, Jakobsdottir Margret, Bergthorsson Jon T, Sigurdsson Asgeir, Blondal Thorarinn, Witjes J Alfred, Vermeulen Sita H, Hulsbergen-van de Kaa Christina A, Swinkels Dorine W, Ploeg Martine, Cornel Erik B, Vergunst Henk, Thorgeirsson Thorgeir E, Gudbjartsson Daniel, Gudjonsson Sigurjon A, Thorleifsson Gudmar, Kristinsson Kari T, Mouy Magali, Snorradottir Steinunn, Placidi Donatella, Campagna Marcello, Arici Cecilia, Koppova Kvetoslava, Gurzau Eugene, Rudnai Peter, Kellen Eliane, Polidoro Silvia, Guarrera Simonetta, Sacerdote Carlotta, Sanchez Manuel, Saez Berta, Valdivia Gabriel, Ryk Charlotta, de Verdier Petra, Lindblom Annika, Golka Klaus, Bishop D Timothy, Knowles Margaret A, Nikulasson Sigfus, Petursdottir Vigdis, Jonsson Eirikur, Geirsson Gudmundur, Kristjansson Baldvin, Mayordomo Jose I, Steineck Gunnar, Porru Stefano, Buntinx Frank, Zeegers Maurice P, Fletcher Tony, Kumar Rajiv, Matullo Giuseppe, Vineis Paolo, Kiltie Anne E, Gulcher Jeffrey R, Thorsteinsdottir Unnur, Kong Augustine, Rafnar Thorunn, Stefansson Kari
机构信息
Department of Epidemiology and Biostatistics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
出版信息
Nat Genet. 2008 Nov;40(11):1307-12. doi: 10.1038/ng.229. Epub 2008 Sep 14.
We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 x 10(-7)).
我们对来自冰岛和荷兰的1803例膀胱癌（UBC）病例及34336例对照进行了全基因组单核苷酸多态性（SNP）关联研究，并在另外7个病例对照组（2165例病例和3800例对照）中开展了后续研究。在8号染色体q24区域、MYC上游30 kb处的rs9642880位点的T等位基因观察到最强关联（等位基因特异性比值比（OR）= 1.22；P = 9.34×10⁻¹²）。约20%的欧洲血统个体rs9642880[T]呈纯合状态，其患膀胱癌的估计风险是非携带者的1.49倍。未观察到膀胱癌与先前与前列腺癌、结直肠癌和乳腺癌相关的4个8号染色体q24区域变异之间存在关联，rs9642880也与这三种癌症中的任何一种均无关联。位于3号染色体q28区域TP63附近的rs710521[A]捕捉到一个较弱但仍具有全基因组显著性的信号（等位基因特异性OR = 1.19；P = 1.15×10⁻⁷）。
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