0000000000961167
AUTHOR
S Schreiber
Inanspruchnahme von Selbsthilfegruppen für Laryngektomierte in Mitteldeutschland
Selbsthilfegruppen (SHG) dienen als Informationsquelle, Bewaltigungsressource und zur Vertretung von Patienteninteressen. Unbekannt war bisher, wie haufig diese von Laryngektomierten genutzt werden und wodurch sich Inanspruchnehmer von Nichtinanspruchnehmern unterscheiden. In einer multizentrischen Studie wurden 224 laryngektomierte Patienten ein Jahr postoperativ hinsichtlich der Teilnahme an SHG und moglicher Pradiktoren mittels eines halbstrukturierten Interviews und standardisierter Fragebogen befragt. Insgesamt 23% der laryngektomierten Patienten gehen regelmasig in eine SHG. Die Mitgliedschaft ist wahrscheinlicher bei Patienten mit hoherem Bildungsgrad und besserem Einkommen, beim …
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
1. The CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 2011;43:333–338. ### Study Hypothesis Recently, genome-wide association studies (GWAS) have identified several common variants that are associated with risk of coronary artery disease (CAD) and myocardial infarction (MI). The authors state that the current loci discovered in CAD and MI GWAS explain only a small fraction of the heritability of this complex disease. The authors hypothesized that a larger study would provide more power to discover common variants with modest effect sizes. Therefore, they formed the Coronary ARtery DIsease Genome-wid…
Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through w…
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…