Utjecaj polimorfizama u genima za interleukin 6 (IL-6), tumor nekrotizirajući čimbenik alfa 1 (TNF-α1) i transformirajući čimbenik rasta beta 1 (TGF-β1) na stabilnost endoproteza zgloba kuka [Association of single nucleotide polymorphisms in gene interleukin 6 (IL-6), tumor necrosis factor alpha (TNF-α1) and transoforming growth factor beta 1 (TGF-β1) with stability of the total hip endoprosthesis ]

Kolundžić, Robert (2006) Utjecaj polimorfizama u genima za interleukin 6 (IL-6), tumor nekrotizirajući čimbenik alfa 1 (TNF-α1) i transformirajući čimbenik rasta beta 1 (TGF-β1) na stabilnost endoproteza zgloba kuka [Association of single nucleotide polymorphisms in gene interleukin 6 (IL-6), tumor necrosis factor alpha (TNF-α1) and transoforming growth factor beta 1 (TGF-β1) with stability of the total hip endoprosthesis ]. PhD thesis, Sveučilište u Zagrebu.

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Abstract

The research is a retrospective prognostic research combined with a "cross-sectional" polymorphic analysis on position - 597 within the gene IL-6, position - 572 within the gene IL-6, position 29 within the gene TGF-β1 and position - 308 within the gene TNF-α1 in patients who have had implatation of an endoprothesis of the hip joint. There were two groups of respondents included in the research: 41 patients with a total of 45 endoprotheses and 20 healthy volunteers. The primary research parametar was the time (expressed in years), from the moment when an endoprothesis of the hip joint was implanted until the diagnosis of aseptic instability of the endoprothesis with an indication for revision, that is until the final assessment, depending on which of these actions happened first. The polymorphic analysis was conducted on the genome DNA of respondents by using the method of polymerase (PCR) chain reaction and determining various restriction fragments (RFLP) with distinct restriction endonucleases - IL-6 with Fok1 and BsrB1, and TNF-α1 with Nco1. Results of this research, in its primary goal, show that: the "main effect" of factors in the gene TNF-α1 on position - 308 is statistically relevant, but due to small number of the patients, it was not possible to assesss relative risk for genotype G/G comparing to the presence of "A-alel"; statistically, there is much greater risk combined with the genotype T/T on position 29 in the gene TGF-β1 with respect to the mostcommon genotype on that position (T/C), that is with respect to gennotypes that include the "C-allele"; that it is statistically significant or of bordering significance greater risk combined with the genotype G/A on the position - 597 within the gene IL-6, that is with the genotype C/C on position - 572 in the same area; much greater risk has been found in association with a combination of genotypes G/A - 597 / C/C - 572 in the gene IL -6 with respect to other genotype combinations on these two positions. Results of the research also indicate: a larger incidene of developmental hip joint disorder; that the smallest probability of a combined genotype and developmental hip joint disorder is to be found with the genotype T/T on position 29 in the area coded TGF- β1 with respect to genotypes containing the "C-allele" (T/C or C/C); that on position -572 in the gene for IL-6 genotype C/C is associated with a larger probability of developmental hip joint disorder, especially if "combined" with the genotype G/A on position - 597.

Abstract in Croatian

Ovo istraživanje je retrospektivno prognostičko istraživanje kombinirano s presječnom ("cross-sectional") analizom polimorfizama na položaju - 597 gena IL-6, na položaju - 572 u genu IL-6, na položaju 29 u genu TGF-β1 te na položaju - 308 u genu TNF-α1 kod bolesnika kojima je ugrađena endoproteza zgloba kuka. U istraživanje su bile uključene dvije skupine ispitanika: 41 bolesnik s ukupno 45 endoproteza i 20 zdravih dobrovoljaca. Primarni parametar istraživanja bilo je vrijeme (izraženo u godinama), od trenitka ugradnje endoproteze zgloba kuka do postavljanja dijagnoze aseptičke nestabilnosti endoproteze s indikacijama za reviziju, odnosno do zaključne procjene, ovisno koji od ta dva događaja nastupi prvi. Analiza polimorfizama napravljena je na genomskoj DNA ispitanika, korištenjem metode lančane reakcije polimeraze (PCR) i određivanja različitih restrikcijskih ulomaka (RFLP) s određenim restrikcijskim endonukleazama - IL-6 Fok1 i BsrB1, a TNF-α1 - Nco1. Rezultati istraživanja, u primarnom cilju, ukazuju: da je statistički značajan "glavni učinak" čimbenika TNF-α1 položaj - 308", ali nije blo moguće procijeniti relativni rizik za genotip G/G u odnosu na prisustvo "A-alela" zbog relativno malenog broja ispitanika; da je statistički značajno veći rizik združen s genotipom T-T na položaju 29 u genu TGF-β1 u odnosu na najčešći genotip na tom položaju (T/C), odnosno u odnosu na genotipove koji uključuju "C-alel"; statistički značajno ili granično značajno veći rizik združen s genotipom G/A na položaju - 597 u gena IL-6, odnosno s genotipom C/C na položaju - 572 u istom području; nađen je značajno veći rizik združen s kombinacijom genotipova G/A - 597 / CC - 572 u genu IL-6 u odnosu na ostale kombinacije genotipova na ta dva položaja. Rezultati istraživanja također, ukazuju: na združenost prisustva C-alela (kao T/C ili C/C genotip) na položaju 29 u kodirajučem području TGF-β1 i razvojnog poremećaja zgloba kuka; da je na položaju - 572 u genu za IL-6 genotip C/Cdružen s razvojnim poremećajem zgloba kuka, osobito ako dolazi "u kombinaciji" s genotipom G/A na položaju - 597.

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