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An Association of ARG399GLN Polymorphism ofXRCC1Gene with a Risk of Colorectal Cancer

100%
Kabziński J., Przybyłowska K., Mik M., Sygut A., Dziki Ł., Dziki A., Majsterek I.
Polish Journal of Surgery
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2010
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vol. 82
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issue 12
677-680
EN
Colorectal cancer is one of the most commonly diagnosed cancer and a leading cause of death from cancer. DNA repair defects have been associated with an individual susceptibility to cancer. Therefore, polymorphisms of DNA repair genes, including XRCC1 gene, are suspected to may increase the risk of colorectal cancer.The aim of the study was to examine the association between Arg399Gln polymorphisms of XRCC1 gene and the occurrence of colorectal cancer. Research and understanding of the molecular basis of the formation of colorectal cancer will allow for typing of genetically loaded persons and qualifying them to a high-risk group.Material and methods. In case-control study we genotyped 150 colorectal cancer patients and 170 healthy subjects from Polish population. Analysis was performed by PCR-restriction fragment length polymorphism (PCR-RFLP).Results. We found that Gln/Gln genotype is associated with increased risk of colorectal cancer (OR 1.984; Cl 95% 1.070-3.677; p=0.029). We also found that Arg/Gln genotype is a risk factor for progression of tumor growth (OR 3.52; Cl 95% 1.157-10.707; p=0.023).Conclusions. The current state of research suggests a link between Arg399Gln XRCC1 polymorphism and increased risk of colorectal cancer. Therefore, we conclude that the Arg399Gln polymorphism of XRCC1 gene may underlie at the molecular basis of the causes of colorectal cancer.
2

Rola wybranych polimorfizmów genów kodujących cytokiny IL-1ß, IL1ra, IL-6 i TNFα w patogenezie porodu przedwczesnego

75%
SERAFIN M., KALINKA J.
Ginekologia i Położnictwo
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2014
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vol. 9
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issue 3
9-23
EN
Inflammation is a known risk factor for preterm delivery (PTD). Infection in pregnant woman is responsible for up to 40% cases of PTD. Intrauterine invasion of germs, chorioamonitis, sepsis, urinary tract infections, malaria, pneumonia are diseases with proven connection with PTD. Hyper- or hypostimulation of immune system in pregnant woman may lead to inappropriate reaction for stimuli (e.g. infection), resulting in ripening of cervix, preterm premature rupture of membranes (PPROM), uterus contractility and PTD. Interleukines are proteins, which are produced as a response for inflammation. They regulate all processes that help fight infection and provide healing. As other proteins the production of interleukines is regulated by DNA. Changes in DNA like polymorphisms are responsible for e.g. inadequate production of interleukines or production of inactive praticles of protein. Single nucleotide polymorphism (SNP) is a change in one particular place in DNA chain (called locus) that is defined as a replacement in one of nucleic alkali to another. The interleukine-1 beta (IL-1ß), interleukine-6 (IL-6) and tumor necrosis factor alfa (TNFα) are proinflammatory cytokines. Particular polimorphisms in genes that codes these proteins (i.e. IL1B+3953, IL6-174 and TNFA-308 respectively) induce the inadequate production of cytokines resulting in PPROM and PTD. Interleukine-1 receptor antagonist (IL1ra) is antyinflammatory cytokine that bounds competitively with receptor for IL-1ß but gives any biological effect typical for proinflammatory IL-1b. Polymorphism in intron 2 of interleukine-1 receptor antagonist gene (IL1RN) reduces production of IL1ra, which affects balance between IL1ra and IL-1ß and leads to inadequate inflammatory response and PTD.
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