Matykiewicz Jarosław, Adamus-Białek Wioletta, Wawszczak-Kasza Monika, Molasy Bartosz, Kołomańska Magdalena, Oblap Rusłan, Madej Łukasz, Kozieł Dorota, Głuszek Stanisław
Institute of Medical Sciences, Jan Kochanowski University of Kielce, Kielce, Poland.
Sci Rep. 2025 Jan 13;15(1):1791. doi: 10.1038/s41598-025-86249-8.
The single nucleotide polymorphism in NOD2 (rs2066847) is associated with conditions that may predispose to the development of gastrointestinal disorders, as well as the known BRCA1 and BRCA2 variants classified as risk factors in many cancers. In our study, we analyzed these variants in a group of patients with pancreatitis and pancreatic cancer to clarify their role in pancreatic disease development. The DNA was isolated from whole blood samples of 553 patients with pancreatitis, 83 patients with pancreatic cancer, 44 cases of other pancreatic diseases, and 116 healthy volunteers. The NOD2 (rs2066847), BRCA1 (rs80357914) and BRCA2 (rs276174813) were genotyped. The statistically significant 3-fold increased risk of pancreatic cancer was detected among the patients with rs2066847 polymorphism (OR = 2.77, p-value = 0.019). We did not find the studied polymorphisms in BRCA1 (rs80357914) and BRCA2 (rs276174813). However, the adjacent polymorphisms have been detected only in patients with pancreatic diseases. The studied variant in NOD2 occurs more frequently in pancreatic patients and significantly increases the risk of pancreatic cancer. It can be considered as a genetic risk factor that predisposes to cancer development. The analyzed regions in BRCA1 and BRCA2 may be a potential target in further search for a genetic marker of pancreatic diseases.
NOD2基因中的单核苷酸多态性（rs2066847）与可能易患胃肠道疾病的情况相关，以及在许多癌症中被归类为风险因素的已知BRCA1和BRCA2变体。在我们的研究中，我们分析了一组胰腺炎和胰腺癌患者中的这些变体，以阐明它们在胰腺疾病发展中的作用。从553例胰腺炎患者、83例胰腺癌患者、44例其他胰腺疾病患者和116名健康志愿者的全血样本中分离DNA。对NOD2（rs2066847）、BRCA1（rs80357914）和BRCA2（rs276174813）进行基因分型。在具有rs2066847多态性的患者中检测到胰腺癌风险有统计学意义的3倍增加（OR = 2.77，p值 = 0.019）。我们在BRCA1（rs80357914）和BRCA2（rs276174813）中未发现所研究的多态性。然而，仅在胰腺疾病患者中检测到相邻的多态性。NOD2中所研究的变体在胰腺疾病患者中更频繁出现，并显著增加胰腺癌风险。它可被视为易患癌症发展的遗传风险因素。BRCA1和BRCA2中分析的区域可能是进一步寻找胰腺疾病遗传标志物的潜在靶点。
