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Rak želodca je maligni tumor, ki vznikne v želodčni sluznici, lahko pa tudi iz žleznih ali limfatičnih celic v steni želodca. Je peto najpogostejše rakavo obolenje na svetu in tretji najpogostejši vzrok smrti, povezane z rakom. Kljub napredkom v diagnostiki in zdravljenju ostaja petletno preživetje bolezni slabo. Razvoj bolezni je kompleksen proces, na katerega lahko vpliva veliko okoljskih dejavnikov tveganja, povežemo pa ga lahko tudi z različnimi genetskimi dejavniki, med katerimi so tudi polimorfizmi posameznega nukleotida (SNP), ki lahko vplivajo na pojav in potek bolezni. Glavni namen magistrske naloge je bil določanje kandidatnih genetskih variacij ali različic z uporabo bioinformacijskih pristopov na podlagi vnaprej izbranih kriterijev, kot so pogostnost alelov, lokacija v bližini funkcionalnih elementov in/ali lokacija v promotorskem področju ali 3' koncu gena (v nadaljevanju 3'UTR regija). Analizo kandidatnih genetskih različic smo izvedli na vzorcih DNA iz tkiv bolnikov z rakom želodca in na vzorcih DNA iz krvi zdravih posameznikov. Raziskovalna naloga je bila zastavljena kot študija primerov s kontrolami. S statistično analizo genetskih različic v populacijah bolnikov z rakom želodca in zdravih posameznikov sem opredelila povezavo med izbranimi različicami in dovzetnostjo za razvoj bolezni. Gastric cancer is a malignant carcinoma of the digestive tract and as such the fifth most common cancer malignancy worldwide and the third most common cause of cancer related deaths in the world. Although many advances in diagnosing and treatment in the last few decades, the 5-year survival rate remains poor. The developement of gastric cancer is a complex, multifactorial process with various potential environmental risk factors, but however it can also be related to different genetic factors, including single nucleotide polymorphisms (SNPs), which may contribute to the developement of the disease. The aim of my master's thesis was to determine candidate genetic variations with selected bioinformatic tools. Selected variations had to meet our criteria, such as allele frequency over 0,1, location of polymorphisms in the promoter region or in the 3'-untranslated region of the gene. The study was performed on DNA derived from tissue of patients with gastric cancer and blood samples from healthy subjects of control group. The correlation between selected polymorphisms and susceptibility to the disease was tested by statistically analysing selected genetic variations of gastric cancer patients and healthy subjects. |
