中国医学科学院肿瘤研究所肿瘤医院林东昕、王成峰教授领衔的胰腺癌易感基因研究获重大突破。相关论文"Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations"于12月11日在线发表在国际顶级专业期刊《自然—遗传学》Nature Genetics上。
胰腺癌是恶性度最高、预后最差的一种肿瘤，患者的5年生存率一般不到5%。胰腺癌预后差的主要原因之一是没有有效的早期检测方法，大多数患者就医时已失去手术治疗的机会。为了阐明胰腺癌发生发展的内在原因、寻找早期检测和诊断的生物标记，两位从事肿瘤基础研究和临床诊治的教授密切合作，并联合了华中科技大学、复旦大学、中国医科大学、第二军医大学等国内21家单位，在全国16个省、市的25家医院募集了3584例胰腺癌患者和4868例正常对照，通过全基因组关联研究策略，鉴定出5个与胰腺癌相关的新的遗传区域或易感等位基因。这是继今年我国科学家在食管癌、肺癌和胃癌等实体瘤研究方面取得进展之后的又一重要成果。
在这项大规模研究中，研究人员首先用981个胰腺癌患者和1991个正常对照的基因组DNA进行全基因组遗传变异的关联分析，并在独立的一组2603个胰腺癌患者和2877个正常对照中进行了验证，确定21q21.3、5p13.1、21q22.3、22q13.32和10q26.11等5个染色体区域遗传变异是导致胰腺癌发生的易感因素。他们发现，携带5个危险基因型的个体发生胰腺癌的风险比不携带危险基因型的个体高6倍。研究结果推进了对胰腺癌发生发展机制的认识，同时也为胰腺癌的预防和治疗提供了潜在的靶点。（生物谷bioon.com）
doi:doi:10.1038/ng.1020
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Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations
Chen Wu; Xiaoping Miao; Liming Huang; Xu Che; Guoliang Jiang; Dianke Yu; Xianghong Yang; Guangwen Cao; Zhibin Hu; Yongjian Zhou; Chaohui Zuo; Chunyou Wang; Xianghong Zhang; Yifeng Zhou; Xianjun Yu; Wanjin Dai; Zhaoshen Li; Hongbing Shen; Luming Liu; Yanling Chen; Sheng Zhang; Xiaoqi Wang; Kan Zhai; Jiang Chang; Yu Liu; Menghong Sun; Wei Cao; Jun Gao; et al.
Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-free controls of Chinese descent using 666,141 autosomal SNPs. Promising associations were replicated in an additional 2,603 pancreatic cancer cases and 2,877 controls recruited from 25 hospitals in 16 provinces or cities in China. We identified five new susceptibility loci at chromosomes 21q21.3, 5p13.1, 21q22.3, 22q13.32 and 10q26.11 (P = 2.24 × 10−13 to P = 4.18 × 10−10) in addition to 13q22.1 previously reported in populations of European ancestry. These results advance our understanding of the development of pancreatic cancer and highlight potential targets for the prevention or treatment of this cancer.
