School of Biotechnology, Southern Medical University, Guangzhou 510515, China.
Chin J Cancer Res. 2012 Mar;24(1):29-35. doi: 10.1007/s11670-012-0029-7.
Genome-wide association studies (GWAS) have identified 11 loci that influence the risk of developing colorectal cancer (CRC). Given that these studies were conducted in European Caucasian populations, it is not clear whether the results are relevant for populations with different ethnicities. The aim of this study was to examine these associations in a southern Chinese population.
Eleven single-nucleotide polymorphisms (SNPs), rs12701937, rs16892766, rs7014346, rs6983267, rs719725, rs10795668, rs3802842, rs4444235, rs9929218, rs10411210, and rs961253, were genotyped in 229 CRC patients and 267 controls using the MassArray SNP genotyping system.
Evidence of an association with CRC was found for four of the 11 loci. The strongest associations were with rs4444235 and rs961253, with significant odds ratios close to those reported in previous GWAS. Among these four loci, rs719725 and rs4444235 were significantly associated with female gender, rs3802842, rs961253, and rs4444235 with early disease onset, and rs3802842 with later disease onset. However, no associations with CRC risk were detected for six other loci (rs9929218, rs10411210, rs12701937, rs7014346, rs6983267, and rs10795668), and one SNP, rs16892766, was not polymorphic in any of the study participants.
The rs4444235 and rs961253 loci are strongly associated with the risk of CRC in southern Chinese.
全基因组关联研究（GWAS）已经确定了 11 个影响结直肠癌（CRC）发病风险的位点。鉴于这些研究是在欧洲白种人群中进行的，因此尚不清楚这些结果是否与不同种族的人群相关。本研究旨在在华南人群中研究这些相关性。
使用 MassArray SNP 基因分型系统，对 229 例 CRC 患者和 267 例对照者的 11 个单核苷酸多态性（SNP），rs12701937、rs16892766、rs7014346、rs6983267、rs719725、rs10795668、rs3802842、rs4444235、rs9929218、rs10411210 和 rs961253 进行基因分型。
在 11 个位点中，有 4 个与 CRC 相关。最强的关联是 rs4444235 和 rs961253，其显著比值比接近先前 GWAS 报道的比值比。在这四个位点中，rs719725 和 rs4444235 与女性性别显著相关，rs3802842、rs961253 和 rs4444235 与疾病早期发病相关，rs3802842 与疾病晚期发病相关。然而，在另外 6 个位点（rs9929218、rs10411210、rs12701937、rs7014346、rs6983267 和 rs10795668）和一个 SNP（rs16892766）中均未检测到与 CRC 风险相关的关联，且该 SNP 在任何研究参与者中均无多态性。
rs4444235 和 rs961253 位点与华南人群 CRC 的发病风险密切相关。
