中國醫(yī)學(xué)科學(xué)院腫瘤研究所腫瘤醫(yī)院林東昕,、王成峰教授領(lǐng)銜的胰腺癌易感基因研究獲重大突破,。相關(guān)論文"Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations"于12月11日在線發(fā)表在國際頂級專業(yè)期刊《自然—遺傳學(xué)》Nature Genetics上。
胰腺癌是惡性度最高,、預(yù)后最差的一種腫瘤，患者的5年生存率一般不到5%。胰腺癌預(yù)后差的主要原因之一是沒有有效的早期檢測方法,，大多數(shù)患者就醫(yī)時已失去手術(shù)治療的機會。為了闡明胰腺癌發(fā)生發(fā)展的內(nèi)在原因,、尋找早期檢測和診斷的生物標(biāo)記,，兩位從事腫瘤基礎(chǔ)研究和臨床診治的教授密切合作，并聯(lián)合了華中科技大學(xué),、復(fù)旦大學(xué),、中國醫(yī)科大學(xué)、第二軍醫(yī)大學(xué)等國內(nèi)21家單位,，在全國16個省,、市的25家醫(yī)院募集了3584例胰腺癌患者和4868例正常對照，通過全基因組關(guān)聯(lián)研究策略,，鑒定出5個與胰腺癌相關(guān)的新的遺傳區(qū)域或易感等位基因,。這是繼今年我國科學(xué)家在食管癌、肺癌和胃癌等實體瘤研究方面取得進展之后的又一重要成果,。
在這項大規(guī)模研究中,，研究人員首先用981個胰腺癌患者和1991個正常對照的基因組DNA進行全基因組遺傳變異的關(guān)聯(lián)分析，并在獨立的一組2603個胰腺癌患者和2877個正常對照中進行了驗證,，確定21q21.3,、5p13.1、21q22.3,、22q13.32和10q26.11等5個染色體區(qū)域遺傳變異是導(dǎo)致胰腺癌發(fā)生的易感因素,。他們發(fā)現(xiàn)，攜帶5個危險基因型的個體發(fā)生胰腺癌的風(fēng)險比不攜帶危險基因型的個體高6倍,。研究結(jié)果推進了對胰腺癌發(fā)生發(fā)展機制的認識,，同時也為胰腺癌的預(yù)防和治療提供了潛在的靶點,。（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.
