DUSP10与SMAD7基因多态性与结直肠癌遗传易感性研究
Association of polymorphisms of DUSP10 and SMAD7 with colorectal cancer susceptivity

摘要：目的 探究DUSP10和SMAD7基因多态性与结直肠癌遗传易感性的相互关系。方法 采取病例对照研究，以临床确诊结直肠癌患者276例作为病例样本，体健对照者385例作为对照样本，共661例外周血液样本，使用SequenomMassARRAY技术平台进行SNP分型。计算位点间的连锁程度是使用χ2检验与SNPStsts对数据进行统计及分析，而单体型的构建则应用SHEsis软件。结果 基于χ2检验，在等位基因模型下，DUSP10rs908858位点、SMAD7rs1295692位点及rs11874392位点与结直肠癌的发生危险度明显相关,在进行遗传模型分析过程中,使用最佳模型-加性模型分析显示，DUSP10rs908858可减少结直肠癌的发病风险，而SMAD7rs11874392增高结直肠癌的发病风险；使用SHEsis软件分析发现，DUSP10基因上的9个SNP位点分别构成了2个单体域，在校正了年龄和性别后，分析发现DUSP10基因中的单体型“GTCAA”增加结直肠癌的患病风险。结论 DUSP10和SMAD7基因可能跟结直肠癌的发病风险有关。
ABSTRACT: Objective To investigate the relationship of the gene polymorphisms of DUSP10 and SMAD7 with colorectal cancer (CRC) susceptivity. Methods For this case-control study we investigated 276 patients with CRC and 385 healthy controls for their peripheral blood sample analysis. SNP was realized with SequenomMassARRAY technology platform. χ2 analysis and SNPStats software were used to analyze the genotype results. We computed the linkage degree with SHEsis software and constructed the haplotypes. Results Based on χ2 test, in the allele model, DUSP10rs908858, SMAD7rs12956924 and rs11874392 were associated with CRC. In the genetic model analyses, under the best model and the Log-additive model, DUSP10rs908858 reduced the risk of CRC while SMAD7rs11874392 increased the risk. Using SHEsis software we found that two blocks in DUSP10L gene were detected. After adjustment by sex and age, we found that haplotype ？？GTCAA？？ showed an increased risk of CRC. Conclusion DUSP10 and SMAD7 genes may be associated with CRC in the Xi’an Han population. However, our results need further verification