Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits : A Multi-Ethnic Meta-Analysis of 45,891 Individuals

J. Kaprio, S. Ripatti ja M.-L. Lokki työryhmien jäseniä.Peer reviewe

Meconnaissance des traumatismes des voies urinaires dans un contexte de poly traumatisme: a propos de deux observations

Les auteurs rapportent deux cas de traumatismes méconnus de l’arbre urinaire survenus au décours d’un traumatisme abdominal fermé. Le diagnostic de lésions de l’arbre urinaire a été secondairement porté dans les deux cas après la prise en charge initiale, qui a consisté à un drainage percutané d’un urinome pour l’un et une laparotomie pour suspicion de péritonite aigue pour l’autre. Ils insistent sur une bonne évaluation clinique du traumatisé abdominal doublé de la réalisation des examens d’imagerie pour ne pas méconnaitre des lésions de l’arbre urinaire pouvant mettre en jeu le pronostic vital du patient.Mots clés: traumatisme, rein, vessie, urinome, péritonite, uroscannerEnglish AbstractThe authors report two cases of unrecognized trauma of the urinary tract occurred in the waning of blunt abdominal trauma. The diagnosis of lesions of the urinary tract was secondarily increased in both cases after the initial charge, which consisted of a percutaneous drainage urinoma for one and a laparotomy for acute peritonitis suspicion for the other. They insist on good clinical assessment of abdominal trauma doubled the achievement of imaging tests to not overlook lesions of the urinary tract that can put patient's life threatening.Keywords: trauma, kidney, bladder, uninoma, peritonitis, CT urograph

Genome-wide association study identifies 48 common genetic variants associated with handedness.

Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10 <sup>-8</sup> ) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (r <sub>G</sub> = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.Pathophysiology, epidemiology and therapy of agein