The Genetic Variant on Chromosome 10p14 Is Associated with Risk of Colorectal Cancer: Results from a Case-Control Study and a Meta-Analysis

Background
A common single nucleotide polymorphism (SNP), rs10795668, located at 10p14, was first identified to be significantly associated with risk of colorectal cancer (CRC) by a genome-wide association study (GWAS) in 2008; however, another GWAS and following replication studies yielded conflicting results.
Methods
We conducted a case-control study of 470 cases and 475 controls in a Chinese population and then performed a meta-analysis, integrating the current study and 9 publications to evaluate the association between rs10795668 and CRC risk. Heterogeneity among studies and publication bias were assessed by the χ2-based Q statistic test and Egger's test, respectively.
Results
In the case-control study, significant association between the SNP and CRC risk was observed, with per-A-allele OR of 0.71 (95%CI: 0.54–0.94, P = 0.017). The following meta-analysis further confirmed the significant association, with per-A-allele OR of 0.91 (95%CI: 0.89–0.93, Pheterogeneity>0.05) in European population and 0.86 (95%CI: 0.78–0.96, Pheterogeneity <0.05) in Asian population. Besides, sensitivity analyses and publication bias assessment indicated the robust stability and reliability of the results.
Conclusions
Results from our case-control study and the followed meta-analysis confirmed the significant association of rs10795668 with CRC risk.

背景
常见单核苷酸多态性（single nucleotide polymorphism, SNP）rs10795668定位于10p14区域。2008年，一项全基因组关联研究（genome-wide association study, GWAS）首次发现该位点与结直肠癌（colorectal cancer, CRC）发病风险显著相关，但后续另一项GWAS及重复验证研究得出了相悖的结论。
方法
本研究在中国人群中开展了一项病例对照研究，纳入470例结直肠癌患者与475名健康对照；随后整合本次研究数据与已发表的9篇文献进行荟萃分析，以评估rs10795668与结直肠癌发病风险的关联。研究间异质性与发表偏倚分别采用基于卡方检验的Q统计量检验与Egger检验进行评估。
结果
在本次病例对照研究中，观察到该SNP与结直肠癌发病风险存在显著关联：每携带1个A等位基因的比值比（odds ratio, OR）为0.71（95%置信区间：0.54~0.94，P=0.017）。后续荟萃分析进一步验证了该显著关联：在欧洲人群中，每携带1个A等位基因的OR为0.91（95%CI：0.89~0.93，P（异质性）>0.05）；在亚洲人群中则为0.86（95%CI：0.78~0.96，P（异质性）<0.05）。此外，敏感性分析与发表偏倚评估结果表明，本研究结论具有良好的稳定性与可靠性。
结论
本病例对照研究及后续荟萃分析的结果证实，rs10795668与结直肠癌发病风险存在显著关联。