Riemann Kathrin, Becker Lucie, Struwe Henrike, Nückel Holger, Dührsen Ulrich, Alakus Hakan, Winde Günter, Neuhäuser Markus, Rübben Herbert, Schmitz Klaus J, Wohlschlaeger Jeremias, Schmid Kurt W, Siffert Winfried
Institute of Pharmacogenetics, University Hospital Essen, Essen, Germany.
Pharmacogenet Genomics. 2006 Nov;16(11):783-8. doi: 10.1097/01.fpc.0000230414.74726.f6.
Nuclear factor-kappaB (NF-kappaB) is an inducible transcription factor that plays a major role in the regulation of genes involved in immune and inflammatory response. Activation of NF-kappaB has also been associated with apoptosis and proliferation, thereby potentially also controlling oncogenesis. A functional insertion/deletion polymorphism has been identified in the promoter region of NFKB1, which apparently controls the transcription of NF-kappaB. The purpose of this study was, therefore, to investigate associations of the -94ins/delATTG polymorphism with susceptibility and survival of patients with different types of cancer.
Genotype distributions in patients with colorectal carcinoma (n=139), B-cell chronic lymphocytic leukemia (n=72) and clear cell renal cell carcinoma (n=140), and in controls (n=307) were analyzed by pyrosequencing and compared with each other as well as associated with clinico-pathological parameters and demographic data.
No statistically significant differences in both allele and genotype frequencies were observed between patients and healthy controls. Likewise, no association between -94ins/delATTG alleles and survival or disease progression was noticed.
These results suggest that the NFKB1 promoter polymorphism has no effect on risk and course of disease in the three cancer entities that were analyzed.
核因子-κB（NF-κB）是一种可诱导的转录因子，在免疫和炎症反应相关基因的调控中起主要作用。NF-κB的激活还与细胞凋亡和增殖有关，因此也可能控制肿瘤发生。在NFKB1的启动子区域已鉴定出一种功能性插入/缺失多态性，它显然控制着NF-κB的转录。因此，本研究的目的是调查-94ins/delATTG多态性与不同类型癌症患者的易感性和生存率之间的关联。
采用焦磷酸测序法分析结直肠癌患者（n = 139）、B细胞慢性淋巴细胞白血病患者（n = 72）和透明细胞肾细胞癌患者（n = 140）以及对照组（n = 307）的基因型分布，并相互比较，同时与临床病理参数和人口统计学数据相关联。
患者与健康对照组之间在等位基因和基因型频率上均未观察到统计学上的显著差异。同样，未发现-94ins/delATTG等位基因与生存率或疾病进展之间存在关联。
这些结果表明，NFKB1启动子多态性对所分析的三种癌症实体的疾病风险和病程没有影响。
