Multiple genetic variants are associated with colorectal cancer risk in the Han Chinese population
Multiple genetic variants are associated with colorectal cancer risk in the Han Chinese population
复制标题
多种基因变异与中国汉族人群结直肠癌风险相关
DOI：
10.1097/cej.0000000000000012
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发表时间：
2015-01-01
影响因子：
2.4
通讯作者：
Chen, Chao
中科院分区：
文献类型：
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作者：
Wang, Nan;Wang, Li;Chen, Chao
结直肠癌（CRC）是世界范围内的主要健康负担，也是欧洲癌症相关死亡的第二大原因。结直肠癌是一种复杂的疾病，由一系列遗传和表观遗传变化引起，这些变化导致从正常粘膜到不典型增生，最后到癌的逐步进展。在这项研究中，我们在一项汉族人群的病例对照研究（203例，296例对照）中报告了25个标签单核苷酸多态性与结直肠癌之间的遗传关联结果。我们发现白细胞介素-1中的rs1143634；（IL1B）基因和白细胞介素-10 （IL10）基因rs1800871与汉族结直肠癌风险增加相关。进一步的单倍型分析显示，SMAD7（母亲抗十肢截瘫同源基因7）基因中的“GAC”增加了结直肠癌的风险（优势比为1.48；95%可信区间为1.09-2.01；P=0.012）。我们的研究结果结合以往的研究表明，IL10、PSCA、IL1B和SMAD7与中国汉族人群的CRC易感性显著相关。
Colorectal cancer (CRC) is a major health burden worldwide and is the second-leading cause of cancer-related death in Europe. CRC is a complex disease resulting from a series of genetic and epigenetic changes that lead to a stepwise progression from normal mucosa to dysplasia and finally to carcinoma. In this study, we present genetic association results between 25 tag single-nucleotide polymorphisms and CRC in a case–control study (203 cases, 296 controls) of a Han Chinese population. We found that rs1143634 in the interleukin-1&bgr; (IL1B) gene and rs1800871 in the interleukin-10 (IL10) gene were associated with increased risk for CRC in the Han Chinese. Further haplotype analysis revealed that the ‘GAC’ in the SMAD7 (mothers against decapentaplegic homolog 7) gene was found to increase CRC risk (odds ratio=1.48; 95% confidence interval, 1.09–2.01; P=0.012). Our results, combined with previous studies, suggest that IL10, PSCA, IL1B, and SMAD7 are significantly correlated with CRC susceptibility in the Han Chinese population.