Burada F, Mirea C S, Cucu M G, Vilcea I D, Cimpoeru A, Ioana M
Research Center of Gastroenterology and Hepatology, University of Medicine and Pharmacy of Craiova, Romania.
Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, Romania.
Curr Health Sci J. 2018 Apr-Jun;44(2):135-139. doi: 10.12865/CHSJ.44.02.07. Epub 2018 Mar 27.
It is well recognized that the inflammatory bowel disease (IBD) is associated with an increased risk of colorectal cancer (CRC). More susceptibility IBD genes have been reported, NOD2 being one of the most extensively investigated. The aim of this study was to evaluate a possible correlation between NOD2 rs2066844 C>T (also known as Arg702Trp or R702W) variant and CRC risk in a Romanian population. A total of 373 Romanian subjects (108 patients diagnosed with sporadic CRC and 265 controls) were enrolled in this hospital-based case-control study. The NOD2 R702W variants were detected by Real-time PCR using a predesigned TaqMan Genotyping Assay. The association between the genetic risk variant and CRC was expressed as odds ratios (OR) with 95% confidence intervals (CI). We did not find any statistically significant difference when we compared CC genotype with CT genotype (OR 1.1, 95% CI: 0.46-2.61; p=0.83) between CRC patients and controls. No TT homozygous genotype was detected. Also, we compared allele frequencies and no correlation was found (OR 1.09, 95% CI: 0.47-2.56; p=0.84). No association was found in the stratified analysis by tumor site, Dukes' stage and histological subtype. Our study suggests that the NOD2 R702W variant is not associated with CRC risk in the Romanian population. Further data from different and larger populations is required to determine whether NOD R702W SNP has effects on susceptibility to CRC.
众所周知,炎症性肠病(IBD)与结直肠癌(CRC)风险增加有关。已有更多IBD易感基因被报道,其中NOD2是研究最为广泛的基因之一。本研究旨在评估罗马尼亚人群中NOD2 rs2066844 C>T(也称为Arg702Trp或R702W)变体与CRC风险之间的可能相关性。本基于医院的病例对照研究共纳入了373名罗马尼亚受试者(108例诊断为散发性CRC的患者和265名对照)。使用预先设计的TaqMan基因分型检测法通过实时PCR检测NOD2 R702W变体。遗传风险变体与CRC之间的关联以比值比(OR)及95%置信区间(CI)表示。当我们比较CRC患者与对照之间的CC基因型与CT基因型时(OR 1.1,95% CI:0.46 - 2.61;p = 0.83),未发现任何统计学上的显著差异。未检测到TT纯合基因型。此外,我们比较了等位基因频率,未发现相关性(OR 1.09,95% CI:0.47 - 2.56;p = 0.84)。在按肿瘤部位、Dukes分期和组织学亚型进行的分层分析中未发现关联。我们的研究表明,在罗马尼亚人群中,NOD2 R702W变体与CRC风险无关。需要来自不同且更大人群的进一步数据来确定NOD R702W单核苷酸多态性是否对CRC易感性有影响。