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Open access

Jerzy Mrowicki, Karolina Przybyłowska, Łukasz Dziki, Andrzej Sygut, Maria Wiśniewska-Jarosińska, Jan Chojnacki, Adam Dziki and Ireneusz Majsterek

Association of the-801G/A Polymorphism of CXCL12 Gene with the Risk of Inflammatory Bowel Diseases Development in a Polish Population

Inflammatory bowel diseases (IBDs), mainly ulcerative colitis (UC) and Crohn's disease (CD), are characterized by chronic and idiopathic inflammatory conditions of gastrointestinal tract that are immunologically mediated. Stromal cell-derived factor 1 (CXCL12) has been demonstrated to be involved in the pathophysiology of IBD.

The aim of the study was to investigate whether the CXCL12 -G/A polymorphism (rs1801157) is associated to IBD in a sample of Polish population.

Material and methods. A total of 188 patients with IBD including 103 patients with CU and 72 patients with CD and 184 controls were enrolled in the study. Both groups came from the Polish population. The G/A polymorphism of CXCL12 was determined by PCR-RFLP analysis.

Results. There was no association between G/A polymorphism at position -801 promoter region of CXCL12 gene and increased risk of IBD. The study population was not found a difference in genotype distribution between the control group and with both CD and CU patients.

Conclusions. These results suggest that G/A polymorphism at position -801 promoter region of CXCL12 gene relates neither to the risk of the development of inflammatory bowel disease nor to the clinical subtypes of IBD in the Polish population. Whether this polymorphism truly contributes to disease susceptibility needs to be further addressed, and should stimulate additional studies in other populations.

Open access

Ryszard Kujawski, Karolina Przybyłowska-Sygut, Michał Mik, Miłosz Lewandowski, Radzisław Trzciński, Maciej Berut, Łukasz Dziki, Ireneusz Majsterek and Adam Dziki

Abstract

Circulating tumor cells (CTC) are cells in circulating blood that have the antigen and gene features of tumor cells of a specific type. Since they can be potentially used in diagnostics and monitoring of treatment of many tumors, they have been attracting attention of researchers worldwide. Plastin-3 (PL S3) is one of such markers of CTC.

The aim of the study was to assess expression of PL S3 in CTC in patients with colorectal cancer, to conduct a statistical analysis and to demonstrate a link between expression of PL S3 and progress of the disease, level of CEA and Ca19-9 markers, gender and age of the patients.

Material and methods. A group of 85 patients of the Department of General and Colorectal Surgery of the Medical University in Łódź were enrolled in this study. Circulating tumor cells were isolated from whole blood of patients with colorectal cancer and an analysis of PL S3 gene expression in CTC was conducted. The next step was to conduct a statistical analysis and to demonstrate a link between expression of PL S3 in patients’ CTC and progress of the disease, level of CEA and Ca19-9 markers, gender and age of the patients.

Results. PL S3 is a marker which can be potentially used in prediction and monitoring of colorectal cancer. A link between expression of PL S3 in CTC of patients with colorectal cancer and metastasis to lymph nodes has been demonstrated. It may be of key importance how PL S3 could impact the qualification to supplementary cancer treatment in patients with stage II colorectal cancer. A link between expression of PL S3 gene in CTC and gender requires further in-depth studies. It is beyond doubt that PL S3 must be further investigated to determine its role in diagnostics, prediction, treatment and monitoring of treatment of colorectal cancer