Surrogate phenotype definition for alcohol use disorders: a genome-wide search for linkage and association

For the identification of susceptibility loci in complex diseases the choice of the target phenotype is very important. We compared results of genome-wide searches for linkage or for association related to three phenotypes for alcohol use disorder. These are a behavioral score BQ, based on a 12-item questionnaire about drinking behavior and the subject's report of drinking-related health problems, and ERP pattern and ERP magnitude, both derived from the eyes closed resting ERP measures to quantify brain activity. Overall, we were able to identify 11 candidate regions for linkage. Only two regions were found to be related to both BQ and one of the ERP phenotypes. The genome-wide search for association using single-nucleotide polymorphisms did not yield interesting leads

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

Peer reviewedPublisher PD

Der Geologische Dienst in Sachsen: Festband zum Jubiläum 150 Jahre Landesgeologie

Der Geologische Dienst von Sachsen feiert im Jahr 2022 sein 150-jähriges Jubiläum – am 6. April 1872 wurde die Geologische Landesuntersuchung im Königreich Sachsen gegründet. Auf 153 Seiten der Reihe „Geoprofil“ werden Einblicke in die Arbeit des Geologischen Dienstes im LfULG, seinen Aufgaben und die Dienste als zuständige Fachbehörde gegeben. Die elf Einzelbeiträge zeigen die aktuellen Herausforderungen und Chancen, die sich aus den Themenbereichen Umwelt, Naturschutz und Geologie für Sachsen stellen. Im Einzelnen geht es in den Beiträgen um die sächsische Rohstoffstrategie, die Suche nach einem Endlagerstandort für radioaktive Abfälle, Erdwärme, Hydrogeologie, die Eisenbahn Neubaustrecke Dresden – Prag, Naturgefahren, das geowissenschaftliche Archiv, Träger öffentlicher Belange (TöB), Geoparks und einen Blick in die 150 jährige Geschichte. Redaktionsschluss: 30.11.202

Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years

<p>Abstract</p> <p>Background</p> <p>Early onset lung cancer shows some familial aggregation, pointing to a genetic predisposition. This study was set up to investigate the role of candidate genes in the susceptibility to lung cancer patients younger than 51 years at diagnosis.</p> <p>Methods</p> <p>246 patients with a primary, histologically or cytologically confirmed neoplasm, recruited from 2000 to 2003 in major lung clinics across Germany, were matched to 223 unrelated healthy controls. 11 single nucleotide polymorphisms of genes with reported associations to lung cancer have been genotyped.</p> <p>Results</p> <p>Genetic associations or gene-smoking interactions was found for <it>GPX1(Pro200Leu) </it>and <it>EPHX1(His113Tyr)</it>. Carriers of the Leu-allele of <it>GPX1(Pro200Leu) </it>showed a significant risk reduction of OR = 0.6 (95% CI: 0.4–0.8, p = 0.002) in general and of OR = 0.3 (95% CI:0.1–0.8, p = 0.012) within heavy smokers. We could also find a risk decreasing genetic effect for His-carriers of <it>EPHX1(His113Tyr) </it>for moderate smokers (OR = 0.2, 95% CI:0.1–0.7, p = 0.012). Considered both variants together, a monotone decrease of the OR was found for smokers (OR of 0.20; 95% CI: 0.07–0.60) for each protective allele.</p> <p>Conclusion</p> <p>Smoking is the most important risk factor for young lung cancer patients. However, this study provides some support for the T-Allel of <it>GPX1(Pro200Leu) </it>and the C-Allele of <it>EPHX1(His113Tyr) </it>to play a protective role in early onset lung cancer susceptibility.</p

Narzędzia aktywizacji osób z grupy best agers – wyniki badań

W artykule przedstawiono najważniejsze wyniki badania dotyczącego aktywności osób w wieku 55+ w działalności wolontarystycznej, zrealizowanego w ramach Projektu Best Agers – Using the knowledge and experience of professionals in their primes to foster business and skills development in the Baltic Sea Region. Pełny raport z badania jest dostępny na stronie internetowej projektu: www.best-agers-project-eu

Steroids as Adjuvant Therapy for Acute Pharyngitis in Ambulatory Patients: A Systematic Review

PURPOSE This review summarizes the evidence regarding the efficacy of adjuvant steroids for pain reduction in acute pharyngitis

Serum Autoantibodies in Patients with Dry and Wet Age-Related Macular Degeneration

Background: To assess the serum autoantibody profile in patients with dry and exudative age-related macular degeneration compared with healthy volunteers to detect potential biomarkers, e.g., markers for progression of the disease. Materials and Methods: IgG Immunoreactivities were compared in patients suffering from dry age-related macular degeneration (AMD) (n = 20), patients with treatment-naive exudative AMD (n = 29) and healthy volunteers (n = 21). Serum was analysed by customized antigen microarrays containing 61 antigens. The statistical analysis was performed by univariate and multivariate analysis of variance, predictive data-mining methods and artificial neuronal networks were used to detect specific autoantibody patterns. Results: The immunoreactivities of dry and wet AMD patients were significantly different from each other and from controls. One of the most prominently changed reactivity was against alpha-synuclein (p ≤ 0.0034), which is known from other neurodegenerative diseases. Furthermore, reactivities against glyceraldehyde-3-phosphat-dehydrogenase (p ≤ 0.031) and Annexin V (p ≤ 0.034), which performs a major role in apoptotic processes, were significantly changed. Some immunoreacitvities were antithetic regulated in wet and dry-AMD, such as Vesicle transport-related protein (VTI-B). Conclusions: Comparison of autoantibody profiles in patients with dry and wet AMD revealed significantly altered immunoreactivities against proteins particularly found in immunological diseases, further neurodegenerative, apoptotic and autoimmune markers could be observed. A validation study has to explore if these antibody pattern can help to understand the underlying differences in pathogenesis, evaluate their prognostic value and if those could be possibly useful as additional therapeutic targets

Surrogate phenotype definition for alcohol use disorders: a genome-wide search for linkage and association-1

<p><b>Copyright information:</b></p><p>Taken from "Surrogate phenotype definition for alcohol use disorders: a genome-wide search for linkage and association"</p><p></p><p>BMC Genetics 2005;6(Suppl 1):S55-S55.</p><p>Published online 30 Dec 2005</p><p>PMCID:PMC1866728.</p><p></p

Surrogate phenotype definition for alcohol use disorders: a genome-wide search for linkage and association-0

<p><b>Copyright information:</b></p><p>Taken from "Surrogate phenotype definition for alcohol use disorders: a genome-wide search for linkage and association"</p><p></p><p>BMC Genetics 2005;6(Suppl 1):S55-S55.</p><p>Published online 30 Dec 2005</p><p>PMCID:PMC1866728.</p><p></p>e band, block 2: late time window – 1–2.5 Hz wave band, block 3: early time window – 3–7 Hz wave band) are connected. Within each block measures are taken at different locations on the skull. The dotted line represents the mean of all measures. Blue, ERP-M taking into account structure + magnitude: measures of block 1 are much larger than eothers (block 2 and 3), independent from location on the skull. Red, ERP-P taking into account structure: measures of the central and parietal midline channel are larger than those of the frontal channels, this pattern is congruent across blocks