Tan Chunwen, Hu Wangxiong, Huang Yanqin, Zhou Jiaojiao, Zheng Shu
Cancer Institute (Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Zhejiang Province, China), Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, China.
Oncotarget. 2016 Nov 22;7(47):77651-77663. doi: 10.18632/oncotarget.12750.
Recent genome-wide association studies (GWAS) identified eighteen single-nucleotide polymorphisms (SNPs) to be significantly associated with the risk of colorectal cancer (CRC). However, overall results of the following replications are inconsistent and little is known about whether these associations also exit in colorectal adenomas (CRA).
The SNP genotyping was performed using a Sequenom MassARRAY to investigate the association of these eighteen SNPs with colorectal neoplasm in a case-control study consisted of 1049 colorectal cancers, 283 adenomas, and 1030 controls.
Two of these SNPs, rs10505477 and rs719725, showed evidence of an association in both CRC and CRA in our study population. Besides, seven SNPs (rs10808555, rs7014346, rs7837328, rs704017, rs11196172, rs4779584, and rs7229639) were significantly associated with CRC, and another one SNP rs11903757 was over-represented in CRA compared with controls. The strongest association was provided by rs11196172 (OR = 2.02, 95% CI = 1.66 - 2.46, P < 0.0001) and rs11903757 (OR = 1.96, 95% CI = 1.28 - 3.00, P = 0.0026).
These results suggest that some previously reported SNP associations also have impact on CRC and CRA predispositions in the Han Chinese population. A part of genetic risk to CRC is possibly mediated by susceptibility to adenomas.
近期全基因组关联研究（GWAS）确定了18个单核苷酸多态性（SNP）与结直肠癌（CRC）风险显著相关。然而，后续重复研究的总体结果并不一致，且对于这些关联在结直肠腺瘤（CRA）中是否也存在知之甚少。
在一项包含1049例结直肠癌、283例腺瘤和1030例对照的病例对照研究中，使用Sequenom MassARRAY进行SNP基因分型，以研究这18个SNP与结直肠肿瘤的关联。
在我们的研究人群中，其中两个SNP，rs10505477和rs719725，在CRC和CRA中均显示出关联证据。此外，7个SNP（rs10808555、rs7014346、rs7837328、rs704017、rs11196172、rs4779584和rs7229639）与CRC显著相关，另一个SNP rs11903757在CRA中的比例高于对照组。rs11196172（OR = 2.02，95% CI = 1.66 - 2.46，P < 0.0001）和rs11903757（OR = 1.96，95% CI = 1.28 - 3.00，P = 0.0026）的关联最强。
这些结果表明，一些先前报道的SNP关联也对中国汉族人群的CRC和CRA易感性有影响。CRC的部分遗传风险可能由腺瘤易感性介导。
