Igci Mehri, Cakmak Ecir Ali, Oztuzcu Serdar, Bayram Ali, Arslan Ahmet, Gogebakan Bulent, Igci Yusuf Ziya, Cengiz Beyhan, Ozkara Esma, Camci Celaletdin, Demiryurek A Tuncay
Department of Medical Biology, Gaziantep University, Gaziantep, Turkey.
Genet Test Mol Biomarkers. 2012 Dec;16(12):1395-400. doi: 10.1089/gtmb.2012.0208. Epub 2012 Oct 9.
Cytokine-induced expression of suppressors of cytokine signalling (SOCS) molecules is important for the negative feedback control of STAT-dependent cytokine signalling. The aim of this study was to investigate possible association between the promoter region polymorphisms of the SOCS3 gene and metastatic colorectal carcinoma in a Turkish population. The DNA samples obtained from 103 patients and 109 healthy individuals were analyzed by polymerase chain reaction/single-strand conformation polymorphism (SSCP), and nucleotide sequence analysis. Five sets of primers designed for the SOCS3 gene were used, and we did not detect significant differences in genotype frequencies for any of these polymorphisms between the study groups. Only the S3P1 region showed polymorphism and displayed three (1,2,4, 2,3,4 and 2,4) genotypes. Interestingly, 2,3,4 genotype was observed in 3 patients, but not in controls. Moreover, the sequence analysis revealed that the nucleotides positioned at -914 and -1031 nt had the polymorphisms. Nucleotide sequence analysis of SSCP band 1 and band 3 revealed C-914A (rs12953258) and T-1031C (rs111033850) polymorphisms, respectively. The T-1031C polymorphism lies in the border of the STAT-binding site. The T-1031C polymorphism (rs111033850) is a newly identified single nucleotide polymorphism with this study, and we submitted this to the NCBI database. However, these results suggested that there is no marked association between SOCS3 gene promoter region polymorphisms and the risk of developing metastatic colorectal cancer.
细胞因子诱导的细胞因子信号转导抑制因子（SOCS）分子表达对于STAT依赖性细胞因子信号转导的负反馈控制很重要。本研究的目的是调查土耳其人群中SOCS3基因启动子区域多态性与转移性结直肠癌之间的可能关联。通过聚合酶链反应/单链构象多态性（SSCP）和核苷酸序列分析，对从103例患者和109名健康个体获得的DNA样本进行了分析。使用为SOCS3基因设计的五组引物，我们未检测到研究组之间任何这些多态性的基因型频率存在显著差异。只有S3P1区域显示多态性，并表现出三种（1,2,4、2,3,4和2,4）基因型。有趣的是，在3例患者中观察到2,3,4基因型，但在对照组中未观察到。此外，序列分析显示位于-914和-1031 nt的核苷酸存在多态性。SSCP条带1和条带3的核苷酸序列分析分别揭示了C-914A（rs12953258）和T-1031C（rs111033850）多态性。T-1031C多态性位于STAT结合位点的边界。T-1031C多态性（rs111033850）是本研究新发现的单核苷酸多态性，我们已将其提交至NCBI数据库。然而，这些结果表明SOCS3基因启动子区域多态性与发生转移性结直肠癌的风险之间没有明显关联。
