Hung Rayjean J, McKay James D, Gaborieau Valerie, Boffetta Paolo, Hashibe Mia, Zaridze David, Mukeria Anush, Szeszenia-Dabrowska Neonilia, Lissowska Jolanta, Rudnai Peter, Fabianova Eleonora, Mates Dana, Bencko Vladimir, Foretova Lenka, Janout Vladimir, Chen Chu, Goodman Gary, Field John K, Liloglou Triantafillos, Xinarianos George, Cassidy Adrian, McLaughlin John, Liu Geoffrey, Narod Steven, Krokan Hans E, Skorpen Frank, Elvestad Maiken Bratt, Hveem Kristian, Vatten Lars, Linseisen Jakob, Clavel-Chapelon Françoise, Vineis Paolo, Bueno-de-Mesquita H Bas, Lund Eiliv, Martinez Carmen, Bingham Sheila, Rasmuson Torgny, Hainaut Pierre, Riboli Elio, Ahrens Wolfgang, Benhamou Simone, Lagiou Pagona, Trichopoulos Dimitrios, Holcátová Ivana, Merletti Franco, Kjaerheim Kristina, Agudo Antonio, Macfarlane Gary, Talamini Renato, Simonato Lorenzo, Lowry Ray, Conway David I, Znaor Ariana, Healy Claire, Zelenika Diana, Boland Anne, Delepine Marc, Foglio Mario, Lechner Doris, Matsuda Fumihiko, Blanche Helene, Gut Ivo, Heath Simon, Lathrop Mark, Brennan Paul
International Agency for Research on Cancer (IARC), Lyon 69008, France.
Nature. 2008 Apr 3;452(7187):633-7. doi: 10.1038/nature06885.
Lung cancer is the most common cause of cancer death worldwide, with over one million cases annually. To identify genetic factors that modify disease risk, we conducted a genome-wide association study by analysing 317,139 single-nucleotide polymorphisms in 1,989 lung cancer cases and 2,625 controls from six central European countries. We identified a locus in chromosome region 15q25 that was strongly associated with lung cancer (P = 9 x 10(-10)). This locus was replicated in five separate lung cancer studies comprising an additional 2,513 lung cancer cases and 4,752 controls (P = 5 x 10(-20) overall), and it was found to account for 14% (attributable risk) of lung cancer cases. Statistically similar risks were observed irrespective of smoking status or propensity to smoke tobacco. The association region contains several genes, including three that encode nicotinic acetylcholine receptor subunits (CHRNA5, CHRNA3 and CHRNB4). Such subunits are expressed in neurons and other tissues, in particular alveolar epithelial cells, pulmonary neuroendocrine cells and lung cancer cell lines, and they bind to N'-nitrosonornicotine and potential lung carcinogens. A non-synonymous variant of CHRNA5 that induces an amino acid substitution (D398N) at a highly conserved site in the second intracellular loop of the protein is among the markers with the strongest disease associations. Our results provide compelling evidence of a locus at 15q25 predisposing to lung cancer, and reinforce interest in nicotinic acetylcholine receptors as potential disease candidates and chemopreventative targets.
肺癌是全球癌症死亡的最常见原因,每年有超过100万例病例。为了确定影响疾病风险的遗传因素,我们进行了一项全基因组关联研究,分析了来自六个中欧国家的1989例肺癌病例和2625例对照中的317,139个单核苷酸多态性。我们在染色体区域15q25中确定了一个与肺癌强烈相关的位点(P = 9×10^(-10))。该位点在另外五项独立的肺癌研究中得到了重复验证,这些研究共纳入了2513例肺癌病例和4752例对照(总体P = 5×10^(-20)),并且发现它占肺癌病例的14%(归因风险)。无论吸烟状态或吸烟倾向如何,均观察到统计学上相似的风险。该关联区域包含几个基因,其中三个基因编码烟碱型乙酰胆碱受体亚基(CHRNA5、CHRNA3和CHRNB4)。这些亚基在神经元和其他组织中表达,特别是在肺泡上皮细胞、肺神经内分泌细胞和肺癌细胞系中表达,并且它们与N'-亚硝基降烟碱和潜在的肺癌致癌物结合。CHRNA5的一个非同义变体在该蛋白第二个细胞内环的一个高度保守位点诱导氨基酸替代(D398N),是与疾病关联最强的标记之一。我们的结果提供了令人信服的证据,证明15q25位点易患肺癌,并增强了对烟碱型乙酰胆碱受体作为潜在疾病候选因素和化学预防靶点的关注。