@phdthesis{
author = "Branković, Ana S.",
year = "2014",
abstract = "Karcinom prostate je drugi najčešće dijagnostikovan maligni tumor muškaraca u svetu, išesti po broju smrtnih slučajeva. Standardni dijagnostički i prognostički parametri KPsu serumska vrednost prostata specifičnog antigena (PSA), Glison gradus sistem (GGS),i klinički stadijum KP. Studije asocijacije na čitavom genomu identifikovale su preko30 SNP asociranih sa rizikom za razvoj i progresiju KP. Genetičke varijantepredstavljaju potencijalne genetičke markere koji bi se pored standardnih prognostičkihparametara koristili u dijagnostici i praćenju bolesnika sa KP. Rezultati replikativnihstudija slučajeva i kontrola potvrdili su da pojedinačne genetičke varijante mogu imatirazličit stepen asocijacije sa rizikom za razvoj i/ili progresiju KP u različitimpopulacijama.Ova studija imala je za cilj da proceni moguću asocijaciju genotipova i alelagenetičkih varijanti u regionu 7q36 (rs1799983, rs2070744, NOS3 -764A>G, NOS3 -714G>T, rs3918226, NOS3 -649G>A), regionu 8q24 (rs1447295, rs4242382,rs6983267, rs7017300, rs7837688) i regionu 17q12 (rs3760511, rs7501939) sa rizikomza razvoj i progresiju KP.Studija je obuhvatala 150 bolesnika sa KP, 150 bolesnika sa benignomhiperplazijom prostate (BPH) i 100 muškaraca bez kliničkih znakova bolesti prostate(kontrolna grupa). Genotipizacija genetičkih varijanti vršena je metodom RFLP imetodom automatskog sekvenciranja.Za svih pet SNP u regionu 8q24 (rs1447295, rs4242382, rs6983267, rs7017300 irs7837688), kao i za rs7501939 iz regiona 17q12 pokazana je asocijacija sa rizikom zarazvoj KP. U našoj studiji, od 13 analiziranih genetičkih varijanti, za samo dve,rs3760511 (region 17q12) i rs1799983 (region 7q36), pokazana je asocijacija sastandarnim prognostičkim parametrima KP. Rezultati naše studije pokazali su asocijaciju genetičkih varijanti rs3760511 (region 17q12) i rs3198266 (region 7q36) sarizikom za progresiju KP..., Prostate cancer (PCa) is the second most frequently diagnosed malignant tumor, and thesixth leading cause of cancer-related deaths among men worldwide. Standard diagnosticand prognostic parameters are serum PSA level, Gleason gradus score, and the clinicalstage of PCa. Genome-wide association studies (GWAS) have identified over 30 singlenucleotide polymorphisms (SNPs) associated with human PCa. Genetic variants haveemerged as potential genetic markers that could be used along with standard prognosticparameters in PCa diagnostics and outcome prediction.This study aimed to evaluate possible association between genotypes and allelesof genetic variants at 7q36 (rs1799983, rs2070744, NOS3 -764A>G, NOS3 -714G>T,rs3918226, and NOS3 -649G>A), 8q24 (rs1447295, rs4242382, rs6983267, rs7017300,rs7837688) and 17q12 (rs3760511, rs7501939) with PCa risk and progression.150 patients with PCa, 150 patients with benign prostatic hyperplasia (BPH),and 100 men without clinical signs of prostate diseases (control group) were recruited asstudy participants. The genotyping was performed by using PCR-RFLP analysis and bidirectionalDNA sequencing.Our study has shown association for all five analized variants in the region 8q24(rs1447295, rs4242382, rs6983267, rs7017300 and rs7837688) and rs7501939 in the17q12 region with the risk of PCa. Among 13 variants analyzed in our study, two(rs3760511 at 17q12 and rs1799983 at 7q36) have shown evidence of association withstandard prognostic parameters of PCa. Our study yielded evidence of association ofrs3760511 (17q12) and rs3198266 (7q36) with the risk of PCa progression.The results of our study have shown the scientific racionale for conducting casecontrolstudies in Serbian population. The primal contribution of continuing reasearch regarding association between genetic variants and PCa risk and progression is indefining the minimal panel of single nuclotide variants which would be used as nonstandardprognostic parameters in PCa diagnostics and outcome prediction.",
publisher = "Универзитет у Београду, Биолошки факултет",
journal = "Универзитет у Београду",
title = "Studija asocijacije genetičkih varijanti u regionima 7q36, 8q24 i 17q12 sa rizikom za razvoj i progresiju karcinoma prostate, Association study of common genetic variants in regions 7q36, 8q24 and 17q12 with prostate cancer",
url = "https://hdl.handle.net/21.15107/rcub_nardus_2135"
}
