Sałagacka Aleksandra, Żebrowska Marta, Jeleń Agnieszka, Mirowski Marek, Balcerczak Ewa
Laboratory of Molecular Diagnostics and Pharmacogenomics, Department of Pharmaceutical Biochemistry, Medical University of Lodz, Lodz, Poland.
Gut Liver. 2014 Nov;8(6):632-6. doi: 10.5009/gnl13224. Epub 2014 Nov 15.
BACKGROUND/AIMS: Tumor necrosis factor α (TNF-α) encoded by TNFA is a key mediator in inflammation, a precursor condition for peptic ulceration. Promoter polymorphisms of TNFA that influence its transcriptional activity and TNF-α production are known. TNFA-308G>A (rs1800629) and TNFA-1031T>C (rs1799964), which are responsible for increased TNFA transcription, could influence the risk of peptic ulceration. This study aimed to investigate these polymorphisms and to evaluate their association with peptic ulcer disease and Helicobacter pylori infection in the Polish population.
Gastric mucosa specimens obtained from 177 Polish peptic ulcer patients were used to conduct rapid urease tests and to assess the investigated polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. Genotyping data were compared with the results obtained from healthy individuals of Polish origin.
There were no significant differences in genotype and allele frequency of the investigated polymorphisms between peptic ulcer patients and healthy individuals. No associations between the frequencies of particular genotypes and alleles for both single-nucleotide polymorphisms (SNPs) and the presence of H. pylori infection in peptic ulcer patients and in subgroups of men and women with peptic ulcer disease were found.
The investigated SNPs are not risk factors for either peptic ulcer or H. pylori infection development in the Polish population. The results require verification in a larger cohort.
背景/目的：由TNFA编码的肿瘤坏死因子α（TNF-α）是炎症中的关键介质，而炎症是消化性溃疡的前驱病症。已知TNFA的启动子多态性会影响其转录活性和TNF-α的产生。导致TNFA转录增加的TNFA - 308G>A（rs1800629）和TNFA - 1031T>C（rs1799964）可能会影响消化性溃疡的风险。本研究旨在调查这些多态性，并评估它们与波兰人群中消化性溃疡疾病和幽门螺杆菌感染的相关性。
从177名波兰消化性溃疡患者获取胃黏膜标本，用于进行快速尿素酶试验，并通过聚合酶链反应 - 限制性片段长度多态性分析来评估所研究的多态性。将基因分型数据与来自波兰裔健康个体的结果进行比较。
消化性溃疡患者与健康个体之间，所研究多态性的基因型和等位基因频率没有显著差异。在消化性溃疡患者以及患有消化性溃疡疾病的男性和女性亚组中，未发现两种单核苷酸多态性（SNP）的特定基因型和等位基因频率与幽门螺杆菌感染之间存在关联。
在波兰人群中，所研究的SNP既不是消化性溃疡的危险因素，也不是幽门螺杆菌感染发展的危险因素。结果需要在更大的队列中进行验证。
