全基因组关联研究鉴定出中国人喉鳞状细胞癌的三个易感位点。
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
机构信息
1] Cancer Institute, Fudan University Shanghai Cancer Center, Shanghai, China. [2] Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China. [3] Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA. [4] [5].
1] State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. [2].
出版信息
Nat Genet. 2014 Oct;46(10):1110-4. doi: 10.1038/ng.3090. Epub 2014 Sep 7.
To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets including 2,398 cases and 2,804 controls, among which we identified 3 new susceptibility loci at 11q12 (rs174549), 6p21 (rs2857595) and 12q24 (rs10492336). The minor alleles of each of these loci showed protective effects, with odds ratios (95% confidence intervals) of 0.73 (0.68-0.78; P = 1.00 × 10(-20)), 0.78 (0.72-0.84; P = 2.43 × 10(-15)) and 0.71 (0.65-0.77; P = 4.48 × 10(-14)), respectively. None of these variants showed an interaction with smoking or drinking. This is the first GWAS to our knowledge solely on LSCC, and the findings might advance understanding of the etiology of LSCC.
为了鉴定喉鳞状细胞癌（LSCC）的遗传标志物，我们对来自中国人群的 993 例 LSCC 患者（病例）和 1995 例无癌对照进行了全基因组关联研究（GWAS）。然后，我们在包括 2398 例病例和 2804 例对照的 3 个独立数据集对最有前途的变异（关联 P < 1×10(-5))进行了复制，其中我们在 11q12（rs174549）、6p21（rs2857595）和 12q24（rs10492336）处鉴定出 3 个新的易感性位点。这些位点的每个次要等位基因均表现出保护作用，其优势比（95%置信区间）分别为 0.73（0.68-0.78；P = 1.00×10(-20))、0.78（0.72-0.84；P = 2.43×10(-15))和 0.71（0.65-0.77；P = 4.48×10(-14))。这些变异均未显示与吸烟或饮酒的交互作用。这是我们所知的唯一一项针对 LSCC 的 GWAS，研究结果可能有助于深入了解 LSCC 的病因学。
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