近日，美國公共科學(xué)圖書館期刊PLoS ONE在線發(fā)表了中科院上海生科院營養(yǎng)所王慧研究組的研究成果,，這項研究成果揭示了染色體8q24區(qū)域的遺傳變異與中國人群結(jié)直腸癌發(fā)病密切相關(guān),。

結(jié)直腸癌是常見的消化道惡性腫瘤,，世界腫瘤死因排名第四位。我國結(jié)直腸癌的發(fā)生率和死亡率近年來逐漸增加,，但病因?qū)W不明確,，成為目前研究熱點。王慧研究組與中國人民解放軍第三軍醫(yī)大學(xué)曹佳教授研究組合作,，以中國435例結(jié)直腸癌病例與788例正常人為研究對象，對染色體8q24上多態(tài)性位點與結(jié)直腸腫瘤患病風險關(guān)系進行了研究,，發(fā)現(xiàn)8q24上rs6983267多態(tài)性位點與中國人結(jié)直腸癌發(fā)病存在顯著關(guān)聯(lián),；同時對該位點進行Meta分析，結(jié)果表明人群中雜合子 GT攜帶者與純合子GG攜帶者的患病風險分別比TT攜帶者增加了約20% 和39%。以上研究提示rs6983267多態(tài)性位點是結(jié)直腸癌發(fā)病的重要因素,。該工作主要由博士生李綿在王慧研究員的指導(dǎo)下完成,。

該研究課題得到了國家科技部、國家自然科學(xué)基金委,、中國科學(xué)院和上海市科委的資助,。（生物谷Bioon.com）

生物谷推薦原文出處：

PLoS ONE 6(3): e18251. doi:10.1371/journal.pone.0018251

Genetic Variants on Chromosome 8q24 and Colorectal Neoplasia Risk: A Case-Control Study in China and a Meta-Analysis of the Published Literature

Mian Li1#, Yanhong Zhou2#, Peizhan Chen1, Huan Yang2, Xiaoyan Yuan2, Kazuo Tajima3, Jia Cao2*, Hui Wang1*

Previous studies have found that common genetic variants on chromosome 8q24 are associated with the risk of developing colorectal neoplasia. We conducted a hospital-based case-control study, including 435 cases and 788 unrelated controls to investigate the associations between common variants on 8q24 and the risk of colorectal cancer in a Chinese population. We also evaluated the association of rs6983267 with colorectal neoplasia in the published literature via a meta-analysis study. We found that rs6983267 was significantly associated with the risk of colorectal cancer in the Chinese population, with an adjusted odds-ratio (OR) for the GT heterozygotes and GG homozygotes of 1.30 (95% CI = 0.98–1.71, P = 0.069) and 1.66 (95% CI = 1.18–2.34, P = 0.004), respectively, compared to the TT homozygotes, with a P-trend value of 0.003. No association was found for the other three loci (rs16901979, rs1447295 and rs7837688). In the meta-analysis of the published genetic association studies, the rs6983267 variant was found to be associated with an increased risk of colorectal neoplasia. The heterozygous GT carriers showed a 20% increased risk of colorectal neoplasia (OR = 1.20, 95% CI = 1.16–1.25; random effects model) with a summary OR for homozygous GG carriers of 1.39 (95% CI = 1.32–1.48; random effects model) compared to the TT genotype carriers. We found no significant differences between the association of rs6983267 and colorectal cancer and colorectal adenomas. In summary, our study confirms that the variant rs6983267 is a risk factor for colorectal neoplasia in various populations, including the Chinese population.