Some studies have suggested that cir- culating levels of sex hormones may be associated with breast cancer risk. Dun- ning et al. (p. 936) examined the rela- tionship between sex hormone levels, polymorphisms in the genes that encode the enzymes that regulate sex hormone metabolism, and breast cancer risk. They found that single nucleotide changes in the CYP19 gene were associated with es- tradiol levels and differences in the estradiol:testosterone ratio, and single nucleotide changes in the sex hormone- binding globulin (SHBG) gene were as- sociated with SHBG levels and differ- ences in the estradiol:SHBG ratio. However, the genetic mutations ac- counted for very little of the variance in circulating hormone levels in postmeno- pausal women, possibly explaining why the genes have given inconclusive results in studies of breast cancer risk. HIF-1α α α α α and Gastric Cancer

Ključne besede genski polimorfizmi; akutni koronarni sindom Izvleček Izhodišča Genetska raznolikost dejavnikov, ki vplivajo na vnetje, endotelijsko funkcijo, presnovo maščob in trombozo, lahko prispeva k individualni občutljivosti za razvoj koronarne bole- zni. Z našo raziskavo smo želeli preučiti povezavo polimorfizmov v genih za interlevkin-6 (IL-6), endotelijsko sintazo dušikovega oksida (eNOS), apolipoprotein E (apoE), trombo- citni receptor IIIa (GPIIIa), 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 poja- vom obstruktivne koronarne bolezni in 80 zdravih preiskovancev, primerljivih po starosti in spolu. Polimorfno obliko gena za IL-6, eNOS, apoE, GPIIIa, t-PA in PAI-1 smo opredelili z metodo verižne reakcije s polimerazo. Rezultati Alel 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). V porazde- litvi genotipov eNOS 4a/b, apoE ε2/ε3/ε4, GPIIIa PIA1/PIA2, t-PA I/D in PAI-1 4G/5G se skupini nista značilno razlikovali. Z multivariantno regresijsko analizo, kjer smo upošte- vali 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 tvega- nja za pojav AKS. Ugotovili smo tudi pogostnejše pojavljanje genotipa eNOS TT pri bolni- kih z AKS, ki pa se v multivariantni analizi ni izkazal kot neodvisni dejavnik tveganja. Povezanosti polimorfizmov eNOS 4a/4b, apoE ε2/ε3/ε4, GPIIIa PIA1/PIA2, t-PA I/D in PAI-1 4G/5G z AKS naša raziskava ni potrdila. Abstract Background Genetic variants in factors that modulate inflammation, endothelial function, lipid meta- bolism and thrombosis could influence individual susceptibility to coronary artery dis- ease. The aim of our study was to investigate the effect of interleukin-6 (IL-6), endothelial

Growing evidence suggests that individual genetic susceptibility may influence the host's response to infections. The aim of this project was to study whether gene polymorphisms of inflammatory markers are associated with the presence of viable periodontopathogenic bacteria. We extracted genomic DNA from 45 young adults diagnosed with generalized aggressive periodontitis to study Fc receptors, formyl peptide receptor, Interleukin- 6, tumor necrosis factor-, and vitamin D receptor polymorphisms. The presence and viable numbers of Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, and Tannerella forsythensis were determined by culture, and their identities confirmed by PCR. Multiple logistic regressions revealed that both Fc receptor and IL-6 -174 polymorphisms were associated with increased odds of detecting A. actinomycetem - comitans, P. gingivalis, and T. forsythensis after adjustment for age, ethnicity, smoking, and periodontitis extent. These findings support the hypothesis that complex interactions between the microbiota and host genome may be at the basis of susceptibility to aggressive periodontitis.