近日，美国公共科学图书馆期刊PLoS ONE在线发表了中科院上海生科院营养所王慧研究组的研究成果，这项研究成果揭示了染色体8q24区域的遗传变异与中国人群结直肠癌发病密切相关。
结直肠癌是常见的消化道恶性肿瘤，世界肿瘤死因排名第四位。我国结直肠癌的发生率和死亡率近年来逐渐增加，但病因学不明确，成为目前研究热点。王慧研究组与中国人民解放军第三军医大学曹佳教授研究组合作，以中国435例结直肠癌病例与788例正常人为研究对象，对染色体8q24上多态性位点与结直肠肿瘤患病风险关系进行了研究，发现8q24上rs6983267多态性位点与中国人结直肠癌发病存在显著关联；同时对该位点进行Meta分析，结果表明人群中杂合子 GT携带者与纯合子GG携带者的患病风险分别比TT携带者增加了约20% 和39%。以上研究提示rs6983267多态性位点是结直肠癌发病的重要因素。该工作主要由博士生李绵在王慧研究员的指导下完成。
该研究课题得到了国家科技部、国家自然科学基金委、中国科学院和上海市科委的资助。（生物谷Bioon.com）
生物谷推荐原文出处：
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.
