Yoshiya Gen, Takahata Takenori, Hanada Naoyuki, Suzuki Kazuhiro, Ishiguro Atsushi, Saito Masato, Sasaki Mutsuo, Fukuda Shinsaku
Department of Gastroenterology and Hematology, Hirosaki University Graduate School of Medicine, Aomori, Japan.
J Gastroenterol Hepatol. 2008 Jun;23(6):948-53. doi: 10.1111/j.1440-1746.2008.05307.x. Epub 2008 Jan 19.
Single nucleotide polymorphisms (SNP) are shown to be related with cancer incidence. It has been reported that CCND1, p21(cip1)DCC, MTHFR, and EXO1 are related with the risk of malignant neoplasm, but few studies have mentioned the prognosis of the patients. We investigated the SNP of patients and related this to clinicopathological features, including survival rate.
DNA from the tissues of primary colorectal cancer was obtained from surgical resections of 114 patients (68 males and 46 females, 29-83 years). The CCND1 polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and those of other genes were investigated by the TaqMan method. The polymorphisms obtained were statistically analyzed for the relationship with clinicopathological features.
The CG + GG allele was more invasive than the CC allele in histological tumor depth in the DCC codon 201 (P = 0.0086). The 677TT allele in MTHFR had a larger tumor size than the 677CC allele (P = 0.028). In EXO1 P757L polymorphism, patients with the TT allele had a statistically reduced survival rate compared with the other alleles. In CCND1 polymorphisms, we found no statistical significance in clinicopathological features.
From these preliminary data, these polymorphisms would be candidates predicting the clinicopathological features of colorectal cancer, but further more systematic gene analyses are warranted.
单核苷酸多态性(SNP)与癌症发病率相关。据报道,细胞周期蛋白D1(CCND1)、p21(cip1)、结直肠癌缺失基因(DCC)、亚甲基四氢叶酸还原酶(MTHFR)和核酸外切酶1(EXO1)与恶性肿瘤风险相关,但很少有研究提及患者的预后情况。我们对患者的单核苷酸多态性进行了研究,并将其与临床病理特征(包括生存率)相关联。
从114例患者(68例男性和46例女性,年龄29 - 83岁)的手术切除组织中获取原发性结直肠癌组织的DNA。通过聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)分析CCND1多态性,通过TaqMan方法研究其他基因的多态性。对获得的多态性与临床病理特征的关系进行统计学分析。
在DCC基因密码子201中,CG + GG等位基因在组织学肿瘤深度方面比CC等位基因更具侵袭性(P = 0.0086)。MTHFR基因中的677TT等位基因的肿瘤大小比677CC等位基因大(P = 0.028)。在EXO1基因P757L多态性中,与其他等位基因相比,携带TT等位基因的患者生存率在统计学上降低。在CCND1多态性方面,我们未发现其与临床病理特征有统计学意义。
根据这些初步数据,这些多态性可能是预测结直肠癌临床病理特征的候选因素,但需要进行更系统的基因分析。