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Wyszukujesz frazę "polymorphism" wg kryterium: Temat


Wyświetlanie 1-4 z 4
Tytuł:
Evaluation of effect CAT -262C/T, SOD + 35A/C, GPx1 Pro197Leu polymorphisms in patients with ibd in the polish population
Autorzy:
Mrowicki, Jerzy
Mrowicka, Małgorzata
Majsterek, Ireneusz
Mik, Michał
Dziki, Adam
Dziki, Łukasz
Powiązania:
https://bibliotekanauki.pl/articles/1393718.pdf
Data publikacji:
2016
Wydawca:
Index Copernicus International
Tematy:
genetic polymorphism
antioxidant enzyme
inflammatory bowel disease
Opis:
Inflammatory bowel disease (IBD) are a heterogeneous group of disorders in the course dominated by chronic, recurrent gastrointestinal inflammation. It is believed that the activation of IBD occurs in patients with a genetic predisposition to their development. Chronic inflammation develops as a result of an excessive reaction of the immune system principally under the influence of environmental risk factors. Among them, it has been shown that the mechanism of oxidative stress is associated with the pathophysiology of inflammatory bowel disease, responsible for the commencement and progress of these diseases. The aim of the study was the relationship between single nucleotide polymorphisms (SNPs) of individual antioxidant enzymes, and the prevalence of inflammatory bowel disease that may be associated with increased levels of oxidative stress. Material and methods. A total of 111 IBD patients, including 65 patients with ulcerative colitis (UC) and 46 with Crohn’s disease (CD) and 125 healthy controls recruited from the Polish population, were genotyped for CAT -262C / T (rs1001179), SOD + 35A / C (rs2234694), GPx Pro 197 Leu polymorphisms. Genotyping of CAT, SOD, GPx gene polymorphism was performed by a RFLP-PCR. Results. The performed analysis of genetic polymorphisms of antioxidant enzymes showed that polymorphic variant of the CAT -262 C / T may have protective effects in patients with ulcerative colitis in the range of genotype C / T; OR = 0.49 (0.25-0.99), p = 0.044. Trend protective, but statistically unrelated, it was also observed for genotype T / T and T allele of the same polymorphism and genotypes and alleles + 35A / C SOD1 in UC as well as polymorphic variants CAT -262 C / T, Pro197Leu of GPx1, + 35A / C SOD1 in CD. The results were compared with a control group of potentially healthy individuals without such diseases. Conclusions. It has been shown that the polymorphism of antioxidant enzymes CAT gene -262 C / T may have protective effects in patients who are carriers of a genotype C / T at the UC. The potential protective effect without statistical relationships were also observed for other genotypes and alleles studied polymorphic variants of antioxidant enzymes in CD and CAT- 262C / T and + 35 A / C SOD1 in UC. Conducted our audit should be extended to more group of patients in order to assess whether or not to confirm the observed during analysis, the protective effect of CAT-262 C / T in ulcerative colitis and other trends observed for other polymorphic variants tested genes.
Źródło:
Polish Journal of Surgery; 2016, 88, 6; 565-575
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Lack of Association Between the 135G/C Rad51 Gene Polymorphism and the Risk of Colorectal Cancer Among Polish Population
Autorzy:
Mucha, Bartosz
Przybyłowska-Sygut, Karolina
Dziki, Łukasz
Dziki, Adam
Sygut, Andrzej
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1396683.pdf
Data publikacji:
2012-07-01
Wydawca:
Index Copernicus International
Tematy:
polymorphism
135G/C RAD51 gene
colorectal cancer
Opis:
One of the major causes of carcinogenesis is loss of genome stability. RAD51 in process of homologous recombination (HR) played crucial role in maintenance integrity of genome through initiate of DNA double strand breaks repair. Presence of single nucleotide polymorphism (SNP) in RAD51 gene could change the capacity of DNA repair and altered the response to damaging agents. Research on potential impact of genetic variability on development and progression CRC may contribute to setting new genetic markers or/and determined individual susceptibility to CRC.The aim of the study. This study was designed to evaluate the effect of 135 G/C (rs1801320) RAD51 polymorphism located in the 5' untraslated region on the risk and progression of CRC.Material and methods. The subjects consisted of histologically confirmed colorectal cancer (n = 200) and controls (n = 200) with lack of previous history of cancer. The distribution of genotypes was determined by restriction fragment length polymorphism PCR (RFLP - PCR). Statistical analysis was based on multivariate regression model.Results and conclusion. Our study reveal no significance association of 135 G/C RAD51 polymorphism with occurrence and progression of colorectal cancer.
Źródło:
Polish Journal of Surgery; 2012, 84, 7; 358-362
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The -2518 A/G MCP-1 polymorphism as a risk factor of inflammatory bowel disease
Autorzy:
Walczak, Anna
Przybyłowska, Karolina
Sygut, Andrzej
Dziki, Łukasz
Chojnacki, Cezary
Chojnacki, Jan
Dziki, Adam
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1394594.pdf
Data publikacji:
2012
Wydawca:
Index Copernicus International
Tematy:
single nucleotide polymorphism
MCP-1 gene
inflammatory bowel disease
Opis:
Inflammatory bowel diseases (IBD) are disorders originated from immune disturbances. The aim of the study was to evaluate the association between the -2518 A/G MCP-1 polymorphism and the risk of IBD development. Material and methods. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Study group consisted of 197 subjects with IBD (120 with ulcerative colitis and 77 with Crohn’s disease) as well as 210 healthy controls. Results. The presence of the -2518 G/G MCP-1 genotype in the investigated groups seems to be connected with higher risk of inflammatory bowel disease as well as Crohn’s disease only (OR 2.26; 95% CI 1.44-3.54 and OR 2.08; 95% CI 1.21-3.46, respectively). Conclusions. Our data showed that the -2518 A/G MCP-1 polymorphism might be associated with the IBD occurrence and might be used as predictive factor of these diseases in a Polish population.
Źródło:
Polish Journal of Surgery; 2012, 84, 5; 238-241
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Association of XRCC6 C1310G and LIG4 T9I polymorphisms of NHEJ DNA repair pathway with risk of colorectal cancer in the Polish population
Autorzy:
Balinska, Kinga
Wilk, Damian
Filipek, Beata
Mik, Michal
Zelga, Piotr
Skubel, Pawel
Dziki, Łukasz
Dziki, Adam
Mucha, Bartosz
Kabziński, Jacek
Majsterek, Ireneusz
Powiązania:
https://bibliotekanauki.pl/articles/1391955.pdf
Data publikacji:
2019
Wydawca:
Index Copernicus International
Tematy:
Colorectal Neoplasms/genetics
DNA-Binding Proteins/genetics
Genetic Predisposition to Disease/genetics
Genotype
Polymorphism
Single Nucleotide
Opis:
Introduction: Colorectal cancer is the second most common cancer worldwide. DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Nonhomologous end joining (NHEJ) is an important pathway, that allows for recovering DNA by direct end joining. The XRCC6 and LIG4 genes encode respectively Ku70 protein and human ATP-dependent DNA ligase, which are the components of the NHEJ repair pathway. The aim of our study was to evaluate the influence of XRCC6 C1310G and LIG4 T9I genes polymorphisms on colorectal cancer risk among Polish population. Materials and method: Genotyping was performed using TaqMan probes based on analysis of PCR products amplified in Real Time PCR. The research has been carried out on the material obtained from 100 patients with colorectal cancer and 100 cancer-free individuals who were age and sex-matched as a control group. The results were developed using the chi – squer test and odds ratio (OR). Results: Odd ratio analysis indicates reduced risk of colorectal cancer for LIG4 T9I polymorphism in heterozygotus model C/T (OR= 0.2717 95% CI= 0.1247-0,5918) and homozygous model T/T (OR= 0.3593 95% CI= 0.1394-0.9266). Similar situation we observed for XRCC6 C1310G gene polymorphism, which indicated on heterozygotus variant C/G (OR= 0.1181 95% CI= 0.0145-0.964) and homozygotus variant G/G (OR= 0.0972 95% CI= 0.0097-0.9713) to decrease the risk of colorectal cancer. Conslusions: Our research revealed XRCC6 C1310G and LIG4 T9I polymorphisms are associated with diminished risk of colorectal cancer. However, to confirm obtained results, a further investigations should be carried out.
Źródło:
Polish Journal of Surgery; 2019, 91, 3; 15-20
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-4 z 4

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