全基因组关联扫描确定了8号染色体q24上的一个结直肠癌易感位点。
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.
作者信息
Zanke Brent W, Greenwood Celia M T, Rangrej Jagadish, Kustra Rafal, Tenesa Albert, Farrington Susan M, Prendergast James, Olschwang Sylviane, Chiang Theodore, Crowdy Edgar, Ferretti Vincent, Laflamme Philippe, Sundararajan Saravanan, Roumy Stéphanie, Olivier Jean-François, Robidoux Frédérick, Sladek Robert, Montpetit Alexandre, Campbell Peter, Bezieau Stephane, O'Shea Anne Marie, Zogopoulos George, Cotterchio Michelle, Newcomb Polly, McLaughlin John, Younghusband Ban, Green Roger, Green Jane, Porteous Mary E M, Campbell Harry, Blanche Helene, Sahbatou Mourad, Tubacher Emmanuel, Bonaiti-Pellié Catherine, Buecher Bruno, Riboli Elio, Kury Sebastien, Chanock Stephen J, Potter John, Thomas Gilles, Gallinger Steven, Hudson Thomas J, Dunlop Malcolm G
机构信息
Cancer Care Ontario, 620 University Avenue, Toronto, Ontario M5G 1L7, Canada.
出版信息
Nat Genet. 2007 Aug;39(8):989-94. doi: 10.1038/ng2089. Epub 2007 Jul 8.
Using a multistage genetic association approach comprising 7,480 affected individuals and 7,779 controls, we identified markers in chromosomal region 8q24 associated with colorectal cancer. In stage 1, we genotyped 99,632 SNPs in 1,257 affected individuals and 1,336 controls from Ontario. In stages 2-4, we performed serial replication studies using 4,024 affected individuals and 4,042 controls from Seattle, Newfoundland and Scotland. We identified one locus on chromosome 8q24 and another on 9p24 having combined odds ratios (OR) for stages 1-4 of 1.18 (trend; P = 1.41 x 10(-8)) and 1.14 (trend; P = 1.32 x 10(-5)), respectively. Additional analyses in 2,199 affected individuals and 2,401 controls from France and Europe supported the association at the 8q24 locus (OR = 1.16, trend; 95% confidence interval (c.i.): 1.07-1.26; P = 5.05 x 10(-4)). A summary across all seven studies at the 8q24 locus was highly significant (OR = 1.17, c.i.: 1.12-1.23; P = 3.16 x 10(-11)). This locus has also been implicated in prostate cancer.
我们采用多阶段基因关联研究方法，纳入7480例患者和7779例对照，确定了与结直肠癌相关的8号染色体24区的标记。在第一阶段，我们对来自安大略省的1257例患者和1336例对照中的99632个单核苷酸多态性（SNP）进行了基因分型。在第二至四阶段，我们利用来自西雅图、纽芬兰和苏格兰的4024例患者和4042例对照进行了系列重复研究。我们在8号染色体24区确定了一个位点，在9号染色体24区确定了另一个位点，其在第一至四阶段的合并比值比（OR）分别为1.18（趋势；P = 1.41×10⁻⁸）和1.14（趋势；P = 1.32×10⁻⁵）。对来自法国和欧洲的2199例患者和2401例对照的进一步分析支持了8号染色体24区位点的关联（OR = 1.16，趋势；95%置信区间（c.i.）：1.07 - 1.26；P = 5.05×10⁻⁴）。8号染色体24区位点在所有七项研究中的汇总结果具有高度显著性（OR = 1.17，c.i.：1.12 - 1.23；P = 3.16×10⁻¹¹）。该位点也与前列腺癌有关。
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