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Povezanost izbranih polimorfizmov v genu za XRCC6 s hitrostjo napredovanja kronične limfocitne levkemije = Association of selected polymorphisms in XRCC6 gene with progression of chronic lymphocytic leukemia : enoviti magistrski študijski program FarmacijaŠtor, JernejaPolimorfizmi v bližini regulatornih delov gena XRCC6 so povezani z večjim tveganjem za pojav rakavih obolenj, kamor prištevamo tudi KLL. Večjo pojavnost rakavih obolenj so v azijski populaciji ... zaznali pri nosilcih alela G pri rs2267437 ter nosilcih alela C pri rs5751129. Namen magistrskega dela je bil ugotoviti, ali pojavnost določenih alelov/genotipov predstavlja napovedni dejavnik tveganja za slovensko populacijo bolnikov s KLL. Iz polne krvi bolnikov s KLL (N = 233) in kontrolne skupine (N = 121) smo izolirali DNA in z uporabo hidrolizirajočih sond TaqMan® določili genotipe za XRCC6 rs2267437 in XRCC6 rs5751129. V drugem sklopu smo preučevali vpliv genotipa ter kliničnih podatkov na hitrost napredovanja KLL, prikazanih kot čas, ki preteče od diagnoze do uvedbe terapije. V analizo preživetja po Kaplan – Meierju smo vključili 144 bolnikov s KLL. Rezultati magistrske naloge kažejo, da sta rs2267437 in rs5751129 v slovenski kohorti bolnikov in zdravih posameznikov v skladu s HW ravnotežjem. Med rizičnim alelom G (p = 0,6705) oz. rizičnima genotipoma CG in GG (p = 0,51) pri rs2267437 in rizičnim alelom C (p = 1,00) oz. rizičnima genotipoma CT in CC (p = 1,00) pri rs5751129 ter večjim tveganjem za pojav KLL v slovenski populaciji ni povezave, zato se le-ti ne morejo uporabiti kot napovedni dejavniki tveganja. Pojavnost polimorfizmov v slovenski populaciji se razlikuje od azijske populacije (p rs2267437 < 0,0001, p rs5751129 = 0,04), kjer obstaja povezava med genotipom in večjim tveganjem za pojav rakavih obolenj, ne razlikuje pa se od evropske (p rs2267437 = 0,67, p rs5751129 = 1,00), kjer tovrstne povezave niso dokazali. Ugotovili smo, da ni razlik v razporeditvi alelov (p rs2267437 = 0,48 p rs5751129 = 0,38) ali genotipov (p rs2267437 = 1,00, p rs5751129 = 0,14) med moškimi in ženskimi bolniki KLL. Nadalje smo ugotovili, da rizična genotipa CG in GG pri rs2267437 (p dominantni model = 0,58, p recesivni model = 0,51) in rizična genotipa CC in CT pri rs5751129 (p dominantni model = 0,34, p recesivni model = 0,44) ne vplivata na hitrejši potek bolezni pri bolnikih s KLL. Spol ne vpliva na hitrost napredovanja bolezni pri bolnikih s KLL (p = 0,41). Bolniki z neugodnimi citogenetskimi preureditvami; del(11q22) in del(17q13) imajo hitrejši potek bolezni napram bolnikom z ugodnimi citogenetskimi preureditvami (p = 0,016). Bolniki v stadiju B ali C po Binetu imajo hitrejši potek bolezni napram tistim v stadiju A (p < 0,0001).Type of material - master's thesis ; adult, seriousPublication and manufacture - Ljubljana : [J. Štor], 2021Language - slovenianCOBISS.SI-ID - 89643523
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Faculty of Pharmacy, Ljubljana | Ljubljana | FFALJ |
reading room 1 cop.
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Štor, Jerneja | ![]() |
Šmid, Alenka, farmacevtka | 29982 |
Markovič, Tijana | 34223 |
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