Motivation. Our previous study showed differences in the atherosclerosis phenotype between Lithuanian and Swedish men that could be influenced by complementary factors, namely oxidation processes and/or oxidative stress. The goal of this study was to evaluate the mainstream biological pathways inducing and maintaining the atherosclerotic process by analyzing genetic biomarkers particularly in inflammatory and metabolic pathways where the main focus is laid on the oxidation process. Methods. There were 32 families recruited for the study and clinical as well as biochemical analyses were performed. For genetic analysis 150 SNPs in 89 genes were selected in order to construct a microarray based on Arrayed Primer Extension (APEX) genotyping technology. Genotyping was carried out in 28 families and transmission disequilibrium test (TDT), siblingTDT (STDT), and combined analysis were performed. Results. Clinical and biochemical analysis revealed that probands with premature CAD were more likely to have diabetes mellitus, arterial hypertension, dyslipidemia and were male with high body mass index. Genetic analysis showed six SNPs statistically significantly associated with the atherosclerosis phenotype in the candidate genes ITGA2, IL1B, ALOX5A, OR13G1, MMP9 and NFKB1. These genes belong to different biological pathways: trombocyte adhesion and vessel damage, inflammation response, cholesterol and lypoxygenase metabolic pathway and nutrition. Conclusions. Generalized clinical, biochemical, bioinformatical and candidate genes association results support our hypothesis and indicate that the oxidation process may be of key importance in the formation of atherosclerosis., Ingrida Pepalyte, Zita Aušrele Kučinskiene, Kristina Grigalioniene, Žaneta Petrulioniene, Vilma Dženkevičiute, Loreta Bagdonaite, Vaidutis Kučinskas, and Literatura
Background: Despite the fact that the genetic basis of schizophrenia has been intensively studied for more than two decades, our contemporary knowledge in this field is rather fractional, and a substantial part of it is still missing. The aim of this review article is to sum up the data coming from genome‑wide association genetic studies in schizophrenia, and indicate prospective directions of further scientific endeavour. Methods: We searched the National Human Genome Research Institute’s Catalog of genome‑wide association studies for schizophrenia to identify all papers related to this topic. In consequence, we looked up the possible relevancy of these findings for etiology and pathogenesis of schizophrenia using the computer gene and PubMed databases. Results: Eighteen genome‑wide association studies in schizophrenia have been published till now, referring to fifty‑seven genes supposedly involved into schizophrenia’s etiopathogenesis. Most of these genes are related to neurodevelopment, neuroendocrinology, and immunology. Conclusions: It is reasonable to predict that complex studies of sufficiently large samples, involving detection of copy number variants and assessment of endophenotypes, will produce definitive discoveries of genetic risk factors for schizophrenia in the future., Ladislav Hosák, Petr Šilhan, Jiřina Hosáková, and Literatura 48
Publikace vydaná u příležitosti 100. výročí narození G. Skillinga k výstavě konané 30.5. - 5. 8. 2012 v Muzeu Kampa and Obálkový název: Gordon Skilling