Objectives: The aim of this study was to elucidate the role of dopamine receptor D2 / ankyrin repeat and protein kinase domain containing 1 (DRD2/ANKK1) TaqIA allelic polymorphism in the HPVinduced cervical carcinogenesis. Methods: 1. Effect on the risk of cervical precancer: After an 8year followup, out of 214 women with persisting highrisk HPV infection, 102 developed highgrade cervical dysplasia or cervical intraepithelial neoplasia (CIN) grade III, while 112 did not. The subjects were genotyped for the DRD2/ANKK1 TaqIA polymorphism by PCRRFLP, and the allelic distributions were compared between groups with and without highgrade dysplasia. 2. Prognostic value: Two hundred and thirty nine women with cervical precancer/cancer were followed for 5 years. Complete remission was achieved at 182 women. To assess the prognostic value of the TaqIA polymorphism, genotype frequencies were compared between patients reaching and not reaching complete remission. Results: The frequency of A1/A1+A1/A2 genotypes was higher among women who developed highgrade cervical dysplasia (OR: 1.87, 95% CI: 1.053.33; p=0.034) than in the other group. Occurrence of the A1 allele was more frequent among women who did not reach complete remission (OR: 2.00, 95% CI: 1.073.74; p=0.030) than in women with complete remission. Conclusions: This is the first report on the possible involvement of DRD2/ANKK1 TaqIA polymorphism in cervical carcinogenesis. The A1 allele seems to increase the risk of cervical precancer, and it may also be associated with a worse prognosis in women with HPVinduced cervical cancer. The results need further validation in largescale molecular epidemiological studies., József Cseh, Zsuzsa Orsós, Emese Pázsit, Erika Marek, András Huszár, István Ember, István Kiss, and Literatura
Souhrn: Koronární ateroskleróza je velice rozšířená a na jejím vzniku se z 80 % podílejí klasické rizikové faktory, lipidy, krevní tlak, kouření, dieta a životospráva obecně. Významný je také podíl dědičnosti, poznatkům z oblasti genomu je v posledních letech věnována stále větší pozornost. V současné době již byla popsána řada vztahů mezi polymorfizmy nacházenými v jistých místech genů a pravděpodobností vzniku akutního infarktu myokardu v mladším věku. Průřezové studie se věnují vyhledáváním nevýhodných genotypů a alel, které by mohly ovlivňovat časný rozvoj aterosklerózy a časný vznik infarktu myokardu. V článku je uveden přehled některých dosavadních poznatků z oblasti genetiky u nemocných s akutním infarktem myokardu., Michael Aschermann, K. Sedláček, O. Aschermann, and Lit. 20
BACKGROUND: The presence of several risk factors (genetic and non-genetic) has greater impact on the risk of premature coronary artery disease (CAD) than single risk factor. OBJECTIVE: The aim of the study was to establish possible relations between genotypes and alleles of 677C>T polymorphism of MTHFR gene and some traditional risk factors e.g. elevated levels of lipid parameters and smoking in development of premature CAD. METHODS: The groups comprised 152 patients with angiographically documented premature CAD (aged 42.9 +/- 5.5) and 121 age-matched blood donors (aged 42.3 +/- 6.5) were studied. The MTHFR 677C>T polymorphism was genotyped with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. RESULTS: Patients with TT genotype who simultaneously smoked had increased risk of premature CAD compared to non-smoking cases with CC genotype (OR = 24.62). We also found that individuals with TT genotype and elevated LDL-cholesterol (LDL-chol.) level had significantly higher risk of CAD (OR = 9.92) than individuals with normal LDL-chol. level and CC genotype. CONCLUSIONS: The present study shows that simultaneous presence of MTHFR TT genotype and smoking or elevated levels of LDL-chol. influences the risk of premature CAD. This findings give interesting contribution to gene-environment interaction problem that may have clinical implications in the future. and B. Sarecka-Hujar, I. Zak, J. Krauze