Christian Dina

POPGEN: building a reference panel of local ancestry to study genetic variability across metropolitan France

Emmanuelle Génin, Anthony Herzig, Gaëlle Le Folgoc, Gaëlle Marenne et autres

fr (code pays fourni par la source)

FranceGenRef: first steps towards a whole-genome reference panel grounded in French regional ancestral diversity

Emmanuelle Génin, Pierre Lindenbaum, Damien Delafoy, Florian Sandron et autres

fr, us (code pays fourni par la source)

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes

Jet D. Termorshuizen, Helena L. Davies, Sang Hyuck Lee, Jessica K. Dennis et autres

Eating disorders-including anorexia nervosa (AN), bulimia nervosa and binge-eating disorder-are clinically distinct but exhibit symptom overlap and diagnostic crossover. Genomic analyses have mostly examined AN. Here we conducted a genomic meta-analysis of case-control studies of binge-eating behavior (BE; 39,279 cases, 1,227,436 controls), …

se, gb, dk, ca, de, us, no, ee, fi, hr, it, nl, fr, pl, cz, at, gr, au, ch, es, nz, ua (code pays fourni par la source)

DECODING ATHEROPROTECTION IN FAMILIAL HYPERCHOLESTEROLEMIA: THE ROLE OF POLYGENIC BACKGROUND

Antoine Rimbert, An Thys, Antoine Lainé, Sophie Beliard et autres

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum, Isabella Mengarelli et autres

Abstract Brugada syndrome (BrS) is an inherited cardiac condition characterized by a hallmark ECG pattern and an increased risk of sudden cardiac death. Central to the aetiology of BrS, the SCN5A region harbours both common non-coding risk variants and rare coding variants …

nl, fr, us, gb, es, ca, th (code pays fourni par la source)

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

Jari M. T. Lahti, Franziska Ritschel, Dorret Irene Boomsma, Christian Dina et autres

Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg ], twin-based = 0.23-0.53). …

us (code pays fourni par la source)

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm

Milène Fréneau, Raphaël Blanchet, Maxence Bodet, Sandro Benichi et autres

AIMS: Intracranial aneurysm (IA) is a common cerebrovascular abnormality characterized by localized dilation and wall thinning in cerebral arteries, which can rupture and lead to fatal subarachnoid haemorrhage. Although genetic factors can contribute to IA, the genetic pre-disposition of IA is largely …

fr, ch, us (code pays fourni par la source)

Mapping the genetic landscape across 14 psychiatric disorders

Andrew David Grotzinger, Josefin Werme, Wouter J. Peyrot, Oleksandr Frei et autres

de (code pays fourni par la source)

Mapping the genetic landscape across 14 psychiatric disorders

Andrew David Grotzinger, Josefin Werme, Wouter J. Peyrot, Oleksandr Frei et autres

Psychiatric disorders display high levels of comorbidity and genetic overlap1,2, challenging current diagnostic boundaries. For disorders for which diagnostic separation has been most debated, such as schizophrenia and bipolar disorder3, genomic methods have revealed that the majority of genetic signal is shared4. …

us, nl, no, dk, gb, de, ch, ca, se, is, au, br, it, fi, Afrique du Sud, ee (code pays fourni par la source)

Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa

Zheng-An Lu, Alexander Ploner, Andreas Birgegård, Nancy L. Pedersen et autres

Abstract Anorexia nervosa (AN) has extensive genetic correlations with other psychiatric disorders, and genetic risk for different psychiatric disorders was associated with distinct clinical courses in AN. Uncovering associations between transdiagnostic psychiatric genetic liability and AN outcomes can facilitate its personalized treatment. …

se, us, nl, jp, no, cz, nz, de, gb, hr, at, it, ch, fr, gr, pl, es, ee, ca, au, dk (code pays fourni par la source)

Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants

Taisuke Ishikawa, Hiroki Kimoto, Akiko Seki, Manabu Shirai et autres

AIMS: Truncating variations in the titin gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) and have been implicated in various arrhythmic and heart failure phenotypes. Nonetheless, predicting the pathogenicity of a distinct subtype of TTNtv, canonical splice-site variations …

jp, es, fr, de, nl (code pays fourni par la source)

Genome-wide association studies of binge-eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes

Jet D. Termorshuizen, Helena L. Davies, Sang Hyuck Lee, Jessica Kiri Dennis et autres

Eating disorders -including anorexia nervosa (AN), bulimia nervosa, and binge eating disorder-are clinically distinct but exhibit symptom overlap and diagnostic crossover. Genomic analyses have mostly examined AN. We conducted the first genomic meta-analysis of binge eating behaviour (BE; 39,279 cases, 1,227,436 controls), …

se, gb, dk, ca, de, us, es, no, ee, fi, hr, it, nl, fr, pl, cz, at, gr, au, ch, nz (code pays fourni par la source)