8月22日,，由河南省科技,、衛(wèi)生等部門和新鄉(xiāng)醫(yī)學(xué)院聯(lián)合召開的“食管癌易感基因重大發(fā)現(xiàn)新聞發(fā)布會(huì)”上宣布,，由新鄉(xiāng)醫(yī)學(xué)院組織協(xié)作攻關(guān),，由該校癌癥研究中心主任王立東教授領(lǐng)銜的食管癌研究團(tuán)隊(duì),，在食管癌研究領(lǐng)域取得了重大發(fā)現(xiàn)：發(fā)現(xiàn)兩個(gè)位于人類第10號(hào)和20號(hào)染色體上的食管癌易感基因磷脂酶基因亞運(yùn)型（PLCE1）和核黃素轉(zhuǎn)運(yùn)基因（C20orf54）,。這項(xiàng)研究成果為食管癌高危人群預(yù)警和個(gè)體化防治開辟了新的研究方向。
據(jù)介紹,，國(guó)際著名學(xué)術(shù)期刊《自然—遺傳學(xué)》(Nature Genetics)將于8月23日發(fā)表這一研究成果,。
王立東教授領(lǐng)銜的食管癌研究團(tuán)隊(duì)利用全基因組關(guān)聯(lián)分析（GWAS）這一國(guó)際公認(rèn)的復(fù)雜疾病易感基因搜尋的最新技術(shù),，通過對(duì)2．5萬余例中國(guó)不同民族和地區(qū)食管癌患者和健康對(duì)照組進(jìn)行對(duì)比分析，發(fā)現(xiàn)這些不同民族和地區(qū)的食管癌患者均與磷脂酶基因亞運(yùn)型和核黃素轉(zhuǎn)運(yùn)基因密切相關(guān),。這一研究成果不僅有助于科學(xué)家深入解析食管癌的發(fā)病機(jī)制,，而且為食管癌高危人群預(yù)警、早期診斷,、個(gè)體化預(yù)防和治療以及新型高效藥物的篩選提供了理論依據(jù)和分子靶標(biāo),，為今后食管癌的防治開辟了一個(gè)新的研究方向。
王立東教授說,，此次研究結(jié)果不僅在一定程度上揭示了食管癌遺傳的分子基礎(chǔ),，同時(shí)也提示了高易感人群身上所攜帶的一種分子標(biāo)記，利用這種標(biāo)記,，通過一滴外周血的檢查就可能識(shí)別這種高風(fēng)險(xiǎn)人群,，然后進(jìn)行針對(duì)性的檢查，隨訪,。并進(jìn)一步設(shè)計(jì)針對(duì)性明顯的新的治療策略和方法,，從而降低食管癌的發(fā)病率和死亡率。
此項(xiàng)研究是在新鄉(xiāng)醫(yī)學(xué)院與安徽醫(yī)科大學(xué)合作研究協(xié)議的基礎(chǔ)上,，由新鄉(xiāng)醫(yī)學(xué)院特聘教授王立東博士領(lǐng)銜的食管癌科研攻關(guān)團(tuán)隊(duì),，聯(lián)合河南、安徽,、河北,、山西、新疆,、廣東,、江蘇、陜西,、山東,、寧夏、福建,、四川,、云南、內(nèi)蒙古,、浙江,、北京、上海等17個(gè)?。ㄊ校┑?0家腫瘤科研院所和科研機(jī)構(gòu)268位專家,、學(xué)者和研究生共同完成。
食管癌是發(fā)生在食管上皮組織的惡性腫瘤，是世界上最常見的6大惡性腫瘤之一,。而中國(guó)一直是食管癌高發(fā)區(qū),，全世界每年新診斷的食管癌患者約40萬人，一半以上發(fā)生在中國(guó),，目前中國(guó)食管癌死亡率僅次于胃癌居第二位,。據(jù)了解，河南,、河北和山西3省交界的太行山地區(qū)世界上食管癌發(fā)病率和死亡率最高的地區(qū),。
食管癌惡性程度高、病程進(jìn)展迅速,、易復(fù)發(fā)和轉(zhuǎn)移,、預(yù)后極差，因此,，闡明食管癌癌變的分子機(jī)制,，建立適用于大規(guī)模高危人群預(yù)警和早期診斷的簡(jiǎn)便、經(jīng)濟(jì)和特異的分子指標(biāo)和手段,，對(duì)于降低食管癌的發(fā)病率和死亡率,，提高診治水平已成為食管癌研究領(lǐng)域的重大研究課題。（生物谷Bioon.com）
生物谷推薦原文出處：
Nature Genetics doi:10.1038/ng.648
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
Li-Dong Wang1,2, Fu-You Zhou2,3, Xue-Min Li2,4, Liang-Dan Sun5, Xin Song1,2, Yan Jin1, Jiang-Man Li1,2, Guo-Qiang Kong2, Hong Qi2, Juan Cui2, Lian-Qun Zhang1, Jie-Zhi Yang2, Ji-Lin Li1,6, Xing-Chuan Li2, Jing-Li Ren2, Zhi-Cai Liu7, Wen-Jun Gao8, Ling Yuan2,9, Wu Wei10, Yan-Rui Zhang11, Wei-Peng Wang2,4, Ilyar Sheyhidin12, Feng Li13, Bao-Ping Chen14, Shu-Wei Ren15, Bin Liu16, Dan Li1,2, Jian-Wei Ku17, Zong-Min Fan2, Sheng-Li Zhou1, Zhi-Gang Guo1, Xue-Ke Zhao1, Na Liu1, Yong-Hong Ai1, Fang-Fang Shen1, Wen-Yan Cui1, Shuang Song2, Tao Guo2, Jing Huang2, Chao Yuan2, Jia Huang2, Yue Wu2, Wen-Bin Yue18, Chang-Wei Feng2, Hong-Lei Li2, Yan Wang2, Jin-Ya Tian2, Yue Lu2, Yi Yuan1, Wen-Liang Zhu2, Min Liu2, Wen-Jing Fu2, Xia Yang2, Han-Jing Wang2, Suo-Li Han2, Jie Chen2, Min Han19, Hai-Yan Wang1, Peng Zhang1, Xiu-Min Li1, Jin-Cheng Dong2, Guo-Lan Xing2, Ran Wang2, Ming Guo2, Zhi-Wei Chang2, Hai-Lin Liu1, Li Guo2, Zhi-Qing Yuan1, Hai Liu20, Qin Lu2, Liu-Qin Yang21, Fu-Guo Zhu19, Xiu-Feng Yang22, Xiao-Shan Feng23, Zhou Wang24, Yin Li9, She-Gan Gao23, Qirenwang Qige25, Long-Tang Bai25, Wen-Jun Yang26, Guang-Yan Lei27, Zhong-Ying Shen28, Long-Qi Chen29, En-Min Li28, Li-Yan Xu28, Zhi-Yong Wu28, Wei-Ke Cao30, Jian-Po Wang2,3, Zhi-Qin Bao4, Ji-Li Chen4, Guang-Cheng Ding2, Xiang Zhuang2, Ying-Fa Zhou2, Hou-Feng Zheng5, Zheng Zhang5, Xian-Bo Zuo5, Zi-Ming Dong2, Dong-Mei Fan2, Xin He2, Jin Wang2, Qi Zhou2, Qin-Xian Zhang2, Xin-Ying Jiao6, Shi-Yong Lian7, Ai-Fang Ji10, Xiao-Mei Lu12, Jin-Sheng Wang10, Fu-Bao Chang8, Chang-Dong Lu3, Zhi-Guo Chen1, Jian-Jun Miao4, Zeng-Lin Fan4, Ruo-Bai Lin31, Tai-Jiang Liu32, Jin-Chang Wei6, Qing-Peng Kong33, Yu Lan34, Yu-Jing Fan34, Fu-Sheng Gao16, Tian-Yun Wang1, Dong Xie35, Shu-Qing Chen36, Wan-Cai Yang1,38, Jun-Yan Hong36,38, Liang Wang1, Song-Liang Qiu2, Zhi-Ming Cai37 & Xue-Jun Zhang5
We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (PHan combined for ESCC = 7.46 × 10?56, odds ratio (OR) = 1.43; PUygur-Kazakh for ESCC = 5.70 × 10?4, OR = 1.53) and C20orf54 at 20p13 (PHan combined for ESCC = 1.21 × 10?11, OR = 0.86; PUygur-Kazakh for ESCC = 7.88 × 10?3, OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, PHan for GCA = 1.74 × 10?39, OR = 1.55 and C20orf54, PHan for GCA = 3.02 × 10?3, OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA.
