Author/Editor		Černe, Andreja; Čerček, Miha; Kranjec, Igor; Peterlin, Borut
Title		Genski polimorfizmi in akutni koronarni sindrom
Translated title		Gene polymorphism and acute coronary syndrome
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 75, št. 9
Publication year		2006
Volume		str. 549-54
Language		slo
Abstract		Background Genetic variants irn factors that modulate inflammation, endothelial function, lipid metabolism and thrombosis could influence individual susceptibility to coronary artery disease. The aim of our study was to investigate the effect of interleukin-6 (IL-6), endothelial nitric oxide synthase (eNOS), apolipoprotein E (apoE), platelet glycoprotein receptor IIIa (GPllla), tissue plasminogen activator (t-PA) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms on risk of developing acute coronary syndrome (ACS) in a group of Slovenian individuals, Methods We examined 180 subjects, 100 patients with ACS as a first clinical manifestation of obstructive coronary artery disease and 80 age- and gender-matched healthy individuals. Polymorphic sites of the IL-6, eNOS, apoE, GPIIIa, t-PA and PAI-1 genes were determined by polymerase chain reaction. Results ThelL-6-174C allele (CC+GC genotypes) and the eNOS TT genotype occurred significantly more frequently in ACS patients then in controls (66% vs. 51% and 20% vs, 9% respectively; both p < 0.05. There was no significant difference in the distribution of the eNOS 4a/b, apoE eta2/eta3/eta4, GPIIIa PIA1/PIA2 t-PA I/D and PAI-1 4G/5G genotypes between the two groups. By multivariate regression analysis adjusting for traditional risk predictors, the-174C IL-6 allele conferred a 3.0 fold increased risk for ACS (95% CI 1.2-7.2; p < 0.05 in our study population. Conclusions In the present study, the IL-6-174G/C polymorphism emerged as an independent factor for ACS risk. The eNOS G/T genotype distribution differed significantly between the two groups, but in adjusted analyses its effect was blunted by traditional risk factors. No association between the eNOS 4a/b, apoE eta2/eta3/eta4, GPIIIa PIA1/PIA2, t-PA I/D and PAI-1 4G/5G gene polymorphisms and ACS was established.
Summary		Izhodišča Genetska raznolikost dejavnikov, ki vplivajo na vnetje, endotelijsko funkcijo, presnovo maščob in trombozo, lahko prispeva k individualni občutlivosti za razvoj koronarne bolezni. Z našo raziskavo smo želeli preučiti povezavo polimorfizmov v genih za interlevkin-6 (IL-6), endotelijsko sintazo dušikovega oksida (eNOS), apolipoprotein E (apoE), trombocitni receptor Illa (GPllla), tkivni aktivator plazminogena (t PA) in inhibitor aktivatorja plazminogena-1(PAI-1) s tveganjem za pojav akutnega koronarnega sindroma (AKS) pri skupini slovenskih preiskovancev. Metode V raziskavo smo vključili 180 preiskovancev, 100 bolnikov z AKS kot prvim kliničnim pojavom obstruktivne koronarne bolezni in 80 zdravih preiskovancev, primerljivih po starosti in spolu. Polimorfno obliko gena za IL-6 eNOS, apoE, GPIIla, t-PA in PAI-1 smo opredelili z metodo verižne reakcije s polimerazo. Rezultati AIeI IL-6-174C (genotipa GC+CC) in genotip eNOS TT smo pogosteje zasledili pri bolnikih z AKS kot pri zdravih preiskovancih (66% vs. 51% in 20% vs. 9%; oba p < 0,05). Y porazdelitvi genotipov eNOS 4a/b, apoE eta2/eta3/eta4, GPIIIa PIA1/PIA2 t-PA I/D in PAI-1 4G/SG se skupini nista značilno razlikovali. Z multivariantno regresijsko analizo, kjer smo upoštevali tudi vpliv klasičnih dejavnikov tveganja za koronarno bolezen, smo ugotovili, da je prisotnost alela IL-6-174C povezana s 3,0-kratnim tveganjem za pojav AKS (95% CI 1,2-7,2; p < 0,05). zaključki V naši raziskavi smo polimorfizem IL-6-174G/C opredelili kot neodvisni dejavnik tveganja za pojav AKS. Ugotovili smo tudi pogostnejše pojavljanje genotipa eNOS TT pri bolnikih z AKS, ki pa se v multivariantni analizi ni izkazal kot neodvisni dejavnik tveganja. Povezanosti polimorfizmov eNOS 4a/4b, apoE eta2/eta3/et4, GPIIIa PIA1/PIA2, t-PA I/D in PAI-1 4G/5G z AKS naša raziskava ni potrdila.
Descriptors		CORONARY DISEASE HYPERLIPIDEMIA HYPERTENSION POLYMORPHISM (GENETICS) INTERLEUKIN-6 NITRIC-OXIDE SYNTHASE APOLIPOPROTEINS E ALTEPLASE PLASMINOGEN ACTIVATOR INHIBITOR 1 PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX POLYMERASE CHAIN REACTION